No. | Description |
---|---|
1 | 1p/19q deletion analysis (FISH) |
2 | Adenomatous polyposis coli (APC gene) |
3 | Breast-ovarian cancer, familial, 1 (BRCA1 gene) (MLPA) |
4 | ALK-Related Neuroblastoma Susceptibility (ALK Gene) (Exons 21-29) |
5 | cKIT (Exon9,11,13,17) |
6 | EGFR (FISH) |
7 | Ewing sarcoma t(11:22) (FLI1/EWSR1) (FISH) |
8 | HER2 Amplification (ERBB2 or NEU gene) (FISH) |
9 | Hereditary Nonpolyposis Colorectal Cancer (MLH1 gene) |
10 | IDH1 and IDH2 (IDH1 gene, codon 132 and IDH2 codon 172 mutations) |
11 | Polyposis, juvenile intestinal (SMAD4 gene) |
12 | Bladder cancer- UroVysion assay (FISH) |
13 | Multiple endocrine neoplasia 1 (MEN1 gene) |
14 | Neuroblastoma N-MYC (MYCN) (FISH) |
15 | P53 Gene (TP53) (17p13.1) (FISH) |
16 | Hypereosinophilic syndrome, (PDGFRA gene) (Exon12,18) |
17 | RET protooncogene (Exon 10-11-13-14-15 and 16) |
18 | Retinoblastoma (13q14) (FISH) |
19 | ROS1 (FISH) |
20 | TPMT polymorphisms (238 G>C, 460 G>A, 719 A>G) (Thioguanine Drug Metabolism) |
21 | Von Hippel-Lindau syndrome (VHL gene) |
22 | Acute myeloid leukemia, somatic, DNMT3A related |
23 | DNMT3A |
24 | Basal cell nevus syndrome |
25 | PTCH1 |
26 | Basal cell nevus syndrome |
27 | SUFU |
28 | Basal cell nevus syndrome due to germline PTCH2 mutation |
29 | PTCH2 |
30 | Beckwith-Wiedemann syndrome |
31 | CDKN1C |
32 | Beckwith-Wiedemann syndrome |
33 | chr. 11p15 |
34 | Beckwith-Wiedemann syndrome |
35 | H19 |
36 | Beckwith-Wiedemann syndrome |
37 | KCNQ1OT1 |
38 | BRAF somatic Hotspot: c.1799T>A p.V600E |
39 | BRAF, not available in the US |
40 | BRAF, selective sequencing of exon 15 |
41 | BRAF |
42 | Breast cancer, male, susceptibility to |
43 | BRCA2 |
44 | Breast cancer, RINT1 related |
45 | RINT1 |
46 | Breast cancer, susceptibility to |
47 | BARD1 |
48 | Breast cancer, susceptibility to |
49 | PALB2 |
50 | Breast cancer, susceptibility to |
51 | RECQL |
52 | Breast cancer, susceptibility to |
53 | XRCC3 |
54 | Breast-ovarian cancer |
55 | BRCA1 |
56 | Breast-ovarian cancer |
57 | RAD51C |
58 | Breast-ovarian cancer, familial, susceptibility to, type 4 |
59 | RAD51D |
60 | Breast-ovarian cancer, familial, type 2 |
61 | BRCA2 |
62 | CALR, selective sequencing of exon 9 |
63 | CALR |
64 | Carcinoid tumors, intestinal |
65 | SDHD |
66 | Carney complex type 1 |
67 | PRKAR1A |
68 | Cell cycle disorder, CDC20 related |
69 | CDC20 |
70 | Colorectal cancer, hereditary |
71 | NRAS |
72 | Colorectal cancer, hereditary nonpolyposis type 1 |
73 | MSH2 |
74 | Colorectal cancer, hereditary nonpolyposis type 2 |
75 | MLH1 |
76 | Colorectal cancer, hereditary nonpolyposis type 4 |
77 | PMS2 |
78 | Colorectal cancer, hereditary nonpolyposis type 5 |
79 | MSH6 |
80 | Colorectal cancer, hereditary nonpolyposis type 6 |
81 | TGFBR2 |
82 | Colorectal cancer, hereditary nonpolyposis type 7 |
83 | MLH3 |
84 | Colorectal cancer, hereditary nonpolyposis type 8 |
85 | EPCAM |
86 | Colorectal cancer, hereditary, susceptibility to |
87 | CCND1 |
88 | Cowden syndrome type 1 |
89 | PTEN |
90 | Cowden syndrome type 3 |
91 | SDHD |
92 | Cowden syndrome type 5 |
93 | PIK3CA |
94 | Cowden syndrome type 6 |
95 | AKT1 |
96 | Cutaneous telangiectasia and cancer syndrome, familial |
97 | ATR |
98 | Cylindromatosis, familial |
99 | CYLD |
100 | Desmoid disease, hereditary |
101 | APC |
102 | EGFR somatic Hotspot: c.2573T>G, p.L858R |
103 | EGFR, not available in the US |
104 | EGFR, selective sequencing of exons 18-21 |
105 | EGFR |
106 | Endometrial cancer, familial, MSH6 related |
107 | MSH6 |
108 | Familial adenomatous polyposis coli |
109 | APC |
110 | Familial adenomatous polyposis type 2 |
111 | MUTYH |
112 | Familial adenomatous polyposis type 3 |
113 | NTHL1 |
114 | Familial adenomatous polyposis type 4 |
115 | MSH3 |
116 | Gastric cancer, hereditary diffuse |
117 | CDH1 |
118 | Gastrointestinal stromal tumor, familial |
119 | KIT |
120 | Glioblastoma type 3, susceptibility to, due to BRCA2 germline mutation |
121 | BRCA2 |
122 | Granulomatous disease, chronic, autosomal recessive, cytochrome b- positive, type 1 |
123 | NCF1 |
124 | Hemangioma capillary infantile |
125 | ANTXR1 |
126 | Hemangioma, capillary infantile, familial, susceptibility to |
127 | KDR |
128 | Hereditary breast and ovarian cancer syndrome, RAD50 related |
129 | RAD50 |
130 | Hereditary Retinoblastoma |
131 | RB1 |
132 | Hurthle cell thyroid carcinoma, due to germline NDUFA13 mutation |
133 | NDUFA13 |
134 | IDH1, selective sequencing of exon 4 |
135 | IDH1 |
136 | IDH2, selective sequencing of exon 4 |
137 | IDH2 |
138 | JAK2, selective sequencing of exons 12, 14 and 16 |
139 | JAK2 |
140 | Juvenile myelomonocytic leukemia, due to CBL germline mutation |
141 | CBL |
142 | Juvenile polyposis syndrome |
143 | BMPR1A |
144 | Juvenile polyposis syndrome |
145 | SMAD4 |
146 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome |
147 | SMAD4 |
148 | KIT, selective sequencing of exons 8, 9, 11, 13 and 17 |
149 | KIT |
150 | KRAS somatic Hotspot: c.35G>A, p.G12D |
151 | KRAS, not available in the US |
152 | KRAS somatic Hotspot: c.35G>T p.G12V |
153 | KRAS, not available in the US |
154 | KRAS somatic Hotspot: c.38G>A, p.G13D |
155 | KRAS, not available in the US |
156 | KRAS, selective sequencing of exon 2 and 3 |
157 | KRAS |
158 | Leukemia, acute lymphoblastic, susceptibility to, due to PAX5 germline mutation |
159 | PAX5 |
160 | Leukemia, acute myelogenous |
161 | JAK2 |
162 | Leukemia, acute myelogenous |
163 | KRAS |
164 | Leukemia, acute myeloid |
165 | KIT |
166 | Leukemia, acute myeloid |
167 | RUNX1 |
168 | Leukemia, acute myeloid, somatic |
169 | CEBPA |
170 | Leukemia, acute promyelocytic, PL2F/RARA type |
171 | ZBTB16 |
172 | Leukemia, juvenile myelomonocytic |
173 | PTPN11 |
174 | Leukemia, lymphoblastic and myeloid, EZH2 related |
175 | EZH2 |
176 | Leukemia, myeloid acute form, due to CEBPA germline mutation |
177 | CEBPA |
178 | Li-Fraumeni syndrome type 1 |
179 | TP53 |
180 | Li-Fraumeni syndrome type 2 |
181 | CHEK2 |
182 | Medulloblastoma, desmoplastic, familial |
183 | SUFU |
184 | Medulloblastoma, due to BRCA2 germline mutation |
185 | BRCA2 |
186 | Melanoma and neural system tumor syndrome, familial |
187 | CDKN2A |
188 | Melanoma, cutaneous malignant |
189 | MC1R |
190 | Melanoma, cutaneous malignant |
191 | MITF |
192 | Melanoma, cutaneous malignant, familial |
193 | CDKN2A |
194 | Melanoma, cutaneous malignant, familial type 10, susceptibility to |
195 | POT1 |
196 | Melanoma, cutaneous malignant, familial type 6, susceptibility to |
197 | XRCC3 |
198 | Melanoma, cutaneous malignant, familial, CDK4 related |
199 | CDK4 |
200 | Meningioma, familial, PDGFB related |
201 | PDGFB |
202 | Meningioma, familial, susceptibility to |
203 | SMARCE1 |
204 | Meningioma, familial, susceptibility to |
205 | SUFU |
206 | Meningioma, MN1 deficiency related |
207 | MN1 |
208 | Mismatch repair cancer syndrome |
209 | MLH1 |
210 | Mismatch repair cancer syndrome |
211 | MSH2 |
212 | Mismatch repair cancer syndrome |
213 | MSH6 |
214 | Mismatch repair cancer syndrome |
215 | PMS2 |
216 | MMR genes methylation analysis |
217 | MMR genes |
218 | MPL, selective sequencing of exon 10 |
219 | MPL |
220 | Muir-Torre syndrome |
221 | MLH1 |
222 | Muir-Torre syndrome |
223 | MSH2 |
224 | Multiple endocrine neoplasia type 1, CDKN2B related |
225 | CDKN2B |
226 | Multiple endocrine neoplasia type 2A |
227 | RET |
228 | Multiple endocrine neoplasia type 2B |
229 | RET |
230 | Multiple endocrine neoplasia type 4 |
231 | CDKN1B |
232 | Myelodysplastic syndrome, somatic |
233 | TET2 |
234 | Myelofibrosis, somatic |
235 | JAK2 |
236 | Myxoma, intracardiac |
237 | PRKAR1A |
238 | Neurofibromatosis type 1 |
239 | NF1 |
240 | Neurofibromatosis type 1 -like syndrome |
241 | SPRED1 |
242 | Neurofibromatosis type 2 |
243 | NF2 |
244 | Nonpolyposis hereditary colon cancer, PMS1 related |
245 | PMS1 |
246 | Nonsmall cell lung cancer, familial, susceptibility to |
247 | EGFR |
248 | NPM1, selective sequencing of exon 11 |
249 | NPM1 |
250 | NRAS somatic Hotspot: c.181C>A p.Q61K |
251 | NRAS, not available in the US |
252 | NRAS somatic Hotspot: c.182A>G, p.Q61R |
253 | NRAS, not available in the US |
254 | NRAS somatic Hotspot: c.34G>T, p.G12C |
255 | NRAS, not available in the US |
256 | NRAS somatic Hotspot: c.35G>A, p.G12D |
257 | NRAS, not available in the US |
258 | NRAS, selective sequencing of exons 2 and 3 |
259 | NRAS |
260 | Pancreatic cancer type 2, susceptibility to |
261 | BRCA2 |
262 | Pancreatic cancer type 3, susceptibility to |
263 | PALB2 |
264 | Pancreatic cancer, susceptibility to, type 4 |
265 | BRCA1 |
266 | Pancreatic cancer/melanoma syndrome, familial |
267 | CDKN2A |
268 | Paraganglioma and gastric stromal sarcoma |
269 | SDHD |
270 | Paragangliomas type 1, with or without deafness |
271 | SDHD |
272 | Paragangliomas type 4 |
273 | SDHB |
274 | Paragangliomas type 5 |
275 | SDHA |
276 | PDGFRA, selective sequencing of exons 12, 14 and 18 |
277 | PDGFRA |
278 | Peutz-Jeghers syndrome |
279 | STK11 |
280 | Pheochromocytoma type 1 |
281 | SDHD |
282 | Pheochromocytoma type 2 |
283 | SDHB |
284 | Pheochromocytoma type 3 |
285 | SDHC |
286 | Pheochromocytoma type 5 |
287 | SDHAF2 |
288 | Pheochromocytoma type 8 |
289 | TMEM127 |
290 | Pheochromocytoma type 9 |
291 | MAX |
292 | Pituitary adenoma, ACTH-secreting, due to AIP germline mutation |
293 | AIP |
294 | Pituitary adenoma, growth hormone-secreting, due to AIP germline mutation |
295 | AIP |
296 | Pituitary adenoma, prolactin-secreting, due to AIP germline mutation |
297 | AIP |
298 | Pleuropulmonary blastoma |
299 | DICER1 |
300 | Polycythemia vera, somatic |
301 | JAK2 |
302 | Polyposis syndrome, hereditary mixed |
303 | GREM1 |
304 | Polyposis syndrome, hereditary mixed type 2 |
305 | BMPR1A |
306 | Prostate cancer |
307 | BRCA2 |
308 | Prostate cancer |
309 | STAG1 |
310 | Prostate cancer |
311 | ZNF783 |
312 | Prostate cancer, familial, association with |
313 | HOXB13 |
314 | Prostate cancer, hereditary type 1 |
315 | RNASEL |
316 | Prostate cancer, hereditary type 2, susceptibility to |
317 | ELAC2 |
318 | Renal cell carcinoma, due to HNF1A germline mutation |
319 | HNF1A |
320 | Renal cell carcinoma, papillary type 1, familial |
321 | MET |
322 | RET, selective sequencing of exons 5, 8, 10, 11 and 13-16 |
323 | RET |
324 | Spiegler-Brooke syndrome |
325 | CYLD |
326 | Thrombocythemia type 3, somatic |
327 | JAK2 |
328 | Thyroid cancer type 2, nonmedullary, susceptibility to |
329 | SRGAP1 |
330 | Trichoepithelioma, multiple familial, type 1 |
331 | CYLD |
332 | Tumor predisposition syndrome |
333 | BAP1 |
334 | Tumor predisposition syndrome, ARL11 related |
335 | ARL11 |
336 | Tylosis with esophageal cancer |
337 | RHBDF2 |
338 | von Hippel-Lindau syndrome |
339 | VHL |
340 | Wilms tumor, familial, due to BRCA2 mutation |
341 | BRCA2 |
No. | Description |
---|---|
1 | 46,XX sex reversal type 1 |
2 | SRY |
3 | 46,XY sex reversal type 8, modifier of |
4 | AKR1C4 |
5 | Aromatase deficiency |
6 | CYP19A1 |
7 | Azoospermia induced by Y chromosome microdeletions |
8 | AZF region |
9 | Congenital bilateral absence of vas deferens |
10 | CFTR |
11 | Cryptorchidism |
12 | RXFP2 |
13 | Deafness and male infertility |
14 | STRC |
15 | Deafness and male infertility, CATSPER2 related |
16 | CATSPER2 |
17 | Disorders of sex development with cleft palate |
18 | FOXF2 |
19 | Follicle-stimulating hormone deficiency, isolated |
20 | FSHB |
21 | Guttmacher syndrome |
22 | HOXA13 |
23 | Hand-foot-uterus syndrome |
24 | HOXA13 |
25 | Hydatidiform mole |
26 | NLRP7 |
27 | Hydatidiform mole, recurrent, type 2 |
28 | KHDC3L |
29 | Hypogonadotropic hypogonadism |
30 | KISS1 |
31 | Hypogonadotropic hypogonadism |
32 | NSMF |
33 | Hypogonadotropic hypogonadism type 6 with or without anosmia |
34 | FGF8 |
35 | Hypogonadtropic hypogonadism type 14 |
36 | WDR11 |
37 | Hypospadias type 1, X-linked |
38 | AR |
39 | Hypospadias type 2, X-linked |
40 | MAMLD1 |
41 | Leydig cell hypoplasia type 1 |
42 | LHCGR |
43 | Oligo-astheno-teratozoospermia |
44 | NANOS1 |
45 | Oocyte maturation defect |
46 | ZP1 |
47 | Oogenesis dysfunction |
48 | SOHLH1 |
49 | Ovarian dysgenesis type 1 |
50 | FSHR |
51 | Ovarian dysgenesis type 2 |
52 | BMP15 |
53 | Persistent Mullerian duct syndrome type 1 |
54 | AMH |
55 | Persistent Mullerian duct syndrome type 2 |
56 | AMHR2 |
57 | Preeclampsia/eclampsia type 5 |
58 | CORIN |
59 | Pregnancy loss, recurrent, C4BPA related |
60 | C4BPA |
61 | Pseudohermaphroditism with gynecomastia |
62 | HSD17B3 |
63 | SPGF4 |
64 | SYCP3 |
65 | SPGF5 |
66 | AURKC |
67 | SPGF6 |
68 | SPATA16 |
69 | SPGF7 |
70 | CATSPER1 |
71 | SPGF8 |
72 | NR5A1 |
73 | SPGF9 |
74 | DPY19L2 |
75 | Testicular anomalies with or without congenital heart disease |
76 | GATA4 |
No. | Description |
---|---|
1 | matopsia type 2 |
2 | CNGA3 |
3 | Achromatopsia type 3 |
4 | CNGB3 |
5 | Achromatopsia type 4 |
6 | GNAT2 |
7 | Achromatopsia type 6 |
8 | PDE6H |
9 | Aland Island eye disease |
10 | CACNA1F |
11 | Albinism, ocular type I, Nettleship-Falls type |
12 | GPR143 |
13 | Albinism, oculocutaneous nonsyndromic |
14 | SLC24A5 |
15 | Albinism, oculocutaneous type 1A |
16 | TYR |
17 | Albinism, oculocutaneous type 1B |
18 | TYR |
19 | Albinism, oculocutaneous type 2 |
20 | OCA2 |
21 | Albinism, oculocutaneous type 3 |
22 | TYRP1 |
23 | Albinism, oculocutaneous type 4 |
24 | SLC45A2 |
25 | Albinism, oculocutaneous type 5 |
26 | LRMDA |
27 | Aniridia |
28 | PAX6 |
29 | Anterior segment mesenchymal dysgenesis |
30 | PITX3 |
31 | Bardet-Biedl syndrome type 14 |
32 | CEP290 |
33 | Bestrophinopathy |
34 | BEST1 |
35 | Bietti crystalline corneoretinal dystrophy |
36 | CYP4V2 |
37 | Blepharophimosis, epicanthus inversus, and ptosis |
38 | FOXL2 |
39 | Blepharophimosis-ptosis-intellectual disability syndrome |
40 | UBE3B |
41 | Bothnia retinal dystrophy |
42 | RLBP1 |
43 | Bradyopsia |
44 | RGS9 |
45 | Bradyopsia |
46 | RGS9BP |
47 | Branchiootorenal syndrome type 1 |
48 | EYA1 |
49 | Branchiootorenal syndrome type 2 |
50 | SIX5 |
51 | Brittle cornea syndrome |
52 | ZNF469 |
53 | Cataract 11, multiple types |
54 | PITX3 |
55 | Cataract type 17, multiple types |
56 | CRYBB1 |
57 | Cataract type 23 |
58 | CRYBA4 |
59 | Cataract type 41 |
60 | WFS1 |
61 | Cataract type 43 |
62 | UNC45B |
63 | Cataract, autosomal dominant |
64 | GCNT2 |
65 | Cataract, autosomal recessive congenital nuclear type 2 |
66 | CRYBB3 |
67 | Cataract, autosomal recessive congenital type 1 |
68 | CRYAA |
69 | Cataract, autosomal recessive congenital type 2 |
70 | FYCO1 |
71 | Cataract, autosomal recessive congenital type 4 |
72 | TDRD7 |
73 | Cataract, autosomal recessive type 38 |
74 | AGK |
75 | Cataract, congenital |
76 | SORD |
77 | Cataract, congenital, associated with Marinesco-Sjogren Syndrome |
78 | SIL1 |
79 | Cataract, cortical pulverulent, late-onset |
80 | LIM2 |
81 | Cataract, lamellar |
82 | HSF4 |
83 | Cataract, posterior polar type 2 |
84 | CRYAB |
85 | Cataract, pulverulent or cerulean, with or without microcornea |
86 | MAF |
87 | Cataract, X-linked |
88 | NHS |
89 | Cataract-microcornea syndrome |
90 | GJA8 |
91 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia |
92 | IARS2 |
93 | Cerebellar-retinal degeneration, infantile |
94 | ACO2 |
95 | Choroidal dystrophy, central areolar type 2 |
96 | PRPH2 |
97 | Coat plus syndrome |
98 | CTC1 |
99 | Coloboma of optic nerve |
100 | PAX6 |
101 | Coloboma, ocular, autosomal dominant |
102 | PAX6 |
103 | Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation |
104 | YAP1 |
105 | Colobomatous microphthalmia |
106 | TENM1 |
107 | Cone-rod dystrophy |
108 | AIPL1 |
109 | Cone-rod dystrophy |
110 | UNC119 |
111 | Cone-rod dystrophy type 11 |
112 | RAX2 |
113 | Cone-rod dystrophy type 12 |
114 | PROM1 |
115 | Cone-rod dystrophy type 13 |
116 | RPGRIP1 |
117 | Cone-rod dystrophy type 14 |
118 | GUCA1A |
119 | Cone-rod dystrophy type 15 |
120 | CDHR1 |
121 | Cone-rod dystrophy type 17 |
122 | CD3G |
123 | Cone-rod dystrophy type 2 |
124 | CRX |
125 | Cone-rod dystrophy type 20 |
126 | POC1B |
127 | Cone-rod dystrophy type 3 |
128 | ABCA4 |
129 | Cone-rod dystrophy type 4 |
130 | PDE6C |
131 | Cone-rod dystrophy type 5 |
132 | PITPNM3 |
133 | Cone-rod dystrophy type 7 |
134 | RIMS1 |
135 | Cone-rod dystrophy type 9 |
136 | ADAM9 |
137 | Cone-rod dystrophy, C21orf2 related |
138 | C21orf2 |
139 | Cone-rod dystrophy, X-linked type 3 |
140 | CACNA1F |
141 | Corneal dystrophy, epithelial basement membrane |
142 | TGFBI |
143 | Corneal dystrophy, posterior polymorphous, type 1 |
144 | VSX1 |
145 | Corneal endothelial dystrophy type 2 |
146 | SLC4A11 |
147 | Corneal intraepithelial dyskeratosis and ectodermal dysplasia |
148 | NLRP1 |
149 | Corneal opacification and other ocular anomalies |
150 | PXDN |
151 | Doyne honeycob retinal dystrophy |
152 | EFEMP1 |
153 | Duane Retraction syndrome |
154 | CHN1 |
155 | Duane Retraction syndrome |
156 | SALL4 |
157 | Dyschromatosis symmetrica hereditaria |
158 | ADAR |
159 | Early onset glaucoma, phenotype modifier of, COL15A1 related |
160 | COL15A1 |
161 | Ectopia lentis et pupillae |
162 | ADAMTSL4 |
163 | Ectopia lentis, familial |
164 | FBN1 |
165 | Ectopia lentis, isolated, autosomal recessive |
166 | ADAMTSL4 |
167 | Exfoliation syndrome, susceptibility to |
168 | LOXL1 |
169 | Exudative vitreoretinopathy |
170 | FZD4 |
171 | Exudative vitreoretinopathy type 2 |
172 | NDP |
173 | Exudative vitreoretinopathy type 5 |
174 | TSPAN12 |
175 | Fibrosis of extraocular muscles, congenital type 1 |
176 | KIF21A |
177 | Fibrosis of extraocular muscles, congenital type 3a |
178 | TUBB3 |
179 | Fleck retina, familial benign |
180 | PLA2G5 |
181 | Foveal hypoplasia type 1 |
182 | PAX6 |
183 | Fundus albipunctatus |
184 | PRPH2 |
185 | Fundus albipunctatus |
186 | RDH5 |
187 | Gaze palsy, horizontal, with progressive scoliosis |
188 | ROBO3 |
189 | Gillespie syndrome |
190 | ITPR1 |
191 | Glaucoma, open angle type 1A |
192 | MYOC |
193 | Glaucoma, open angle type 1E |
194 | OPTN |
195 | Glaucoma, open angle type 1F |
196 | ASB10 |
197 | Glaucoma, open angle type 1F |
198 | NTF4 |
199 | Glaucoma, open angle type 1G |
200 | WDR36 |
201 | Glaucoma, primary type 3A |
202 | CYP1B1 |
203 | Glaucoma, primary type 3D |
204 | LTBP2 |
205 | Gyrate atrophy of choroid and retina with or without ornithinemia |
206 | OAT |
207 | Hereditary Retinoblastoma |
208 | RB1 |
209 | Hermansky Pudlak syndrome type 4 |
210 | HPS4 |
211 | Hermansky-Pudlak syndrome type 1 |
212 | HPS1 |
213 | Hermansky-Pudlak syndrome type 2 |
214 | AP3B1 |
215 | Hermansky-Pudlak syndrome type 3 |
216 | HPS3 |
217 | Hermansky-Pudlak syndrome type 5 |
218 | HPS5 |
219 | Hermansky-Pudlak syndrome type 6 |
220 | HPS6 |
221 | Hermansky-Pudlak syndrome type 7 |
222 | DTNBP1 |
223 | Hermansky-Pudlak syndrome type 8 |
224 | BLOC1S3 |
225 | Hyperferritinemia-cataract syndrome |
226 | FTL |
227 | Iridogoniodysgenesis type 1 |
228 | FOXC1 |
229 | Jalili syndrome |
230 | CNNM4 |
231 | Keratoconus type 1 |
232 | VSX1 |
233 | Leber congenital amaurosis type 1 |
234 | GUCY2D |
235 | Leber congenital amaurosis type 10 |
236 | CEP290 |
237 | Leber congenital amaurosis type 11 |
238 | IMPDH1 |
239 | Leber congenital amaurosis type 12 |
240 | RD3 |
241 | Leber congenital amaurosis type 16 |
242 | KCNJ13 |
243 | Leber congenital amaurosis type 17 |
244 | GDF6 |
245 | Leber congenital amaurosis type 3 |
246 | SPATA7 |
247 | Leber congenital amaurosis type 5 |
248 | LCA5 |
249 | Leber congenital amaurosis type 6 |
250 | RPGRIP1 |
251 | Leber congenital amaurosis type 7 |
252 | CRX |
253 | Leber congenital amaurosis type 8 |
254 | CRB1 |
255 | Leber congenital amaurosis type 9 |
256 | NMNAT1 |
257 | Leber congenital amaurosis with myopathy |
258 | DTHD1 |
259 | Leber optic atrophy |
260 | MT-ATP6 |
261 | Leber optic atrophy |
262 | MT-CO1 |
263 | Leber optic atrophy |
264 | MT-CO3 |
265 | Leber optic atrophy |
266 | MT-CYB |
267 | Leber optic atrophy |
268 | MT-ND1 |
269 | Leber optic atrophy |
270 | MT-ND2 |
271 | Leber optic atrophy |
272 | MT-ND4 |
273 | Leber optic atrophy |
274 | MT-ND4L |
275 | Leber optic atrophy |
276 | MT-ND5 |
277 | Leber optic atrophy |
278 | MT-ND6 |
279 | Macular degeneration, age-related type 11 |
280 | CST3 |
281 | Macular degeneration, age-related type 3 |
282 | FBLN5 |
283 | Macular degeneration, age-related type 6 |
284 | RAX2 |
285 | Macular degeneration, age-related type 8, association with |
286 | ARMS2 |
287 | Macular degeneration, early-onset |
288 | FBN2 |
289 | Macular dystrophy retinal type 2 |
290 | PROM1 |
291 | Macular dystrophy with central cone involvement |
292 | MFSD8 |
293 | Macular dystrophy, BEST2-related |
294 | BEST2 |
295 | Macular dystrophy, BEST3-related |
296 | BEST3 |
297 | Macular dystrophy, BEST4-related |
298 | BEST4 |
299 | Macular dystrophy, vitelliform |
300 | BEST1 |
301 | Macular dystrophy, vitelliform |
302 | PRPH2 |
303 | Mainzer Saldino syndrome |
304 | IFT140 |
305 | Marshall syndrome |
306 | COL11A1 |
307 | Megalocornea, X-linked |
308 | CHRDL1 |
309 | MELAS syndrome, MT-TL1 related |
310 | MT-TL1 |
311 | Microphthalmia syndromic type 2 |
312 | BCOR |
313 | Microphthalmia syndromic type 3 |
314 | SOX2 |
315 | Microphthalmia syndromic type 5 |
316 | OTX2 |
317 | Microphthalmia syndromic type 6 |
318 | BMP4 |
319 | Microphthalmia syndromic type 6 |
320 | SIX6 |
321 | Microphthalmia syndromic type 7 |
322 | HCCS |
323 | Microphthalmia syndromic type 8 |
324 | ALDH1A3 |
325 | Microphthalmia syndromic type 9 |
326 | STRA6 |
327 | Microphthalmia, isolated type 2 |
328 | VSX2 |
329 | Microphthalmia, isolated type 3 |
330 | RAX |
331 | Microphthalmia, isolated type 4 |
332 | GDF6 |
333 | Microphthalmia, isolated type 5 |
334 | MFRP |
335 | Microphthalmia, isolated type 6 |
336 | PRSS56 |
337 | Microphthalmia, isolated type 9 |
338 | GDF3 |
339 | Microphthalmia, isolated with coloboma type 3 |
340 | VSX2 |
341 | Microphthalmia, isolated with coloboma type 6, digenic |
342 | GDF3 |
343 | Microphthalmia, isolated with coloboma type 6, digenic |
344 | GDF6 |
345 | Microphthalmia, isolated with coloboma type 9 |
346 | TENM3 |
347 | Microphthalmia, syndromic type 1 |
348 | NAA10 |
349 | Microphthalmia, syndromic type 11 |
350 | VAX1 |
351 | Microphthalmia, VAX2 related |
352 | VAX2 |
353 | Microspherophakia and/or megalocornea |
354 | LTBP2 |
355 | Nance-Horan syndrome |
356 | NHS |
357 | Nanophthalmia type 2 |
358 | MFRP |
359 | Night blindness type 1, congenital stationary, autosomal dominant |
360 | RHO |
361 | Night blindness, congenital stationar type 1B |
362 | GRM6 |
363 | Night blindness, congenital stationar type 1C |
364 | TRPM1 |
365 | Night blindness, congenital stationary type 1A |
366 | NYX |
367 | Night blindness, congenital stationary type 2A |
368 | CACNA1F |
369 | Night blindness, congenital stationary type 2B |
370 | CABP4 |
371 | Night blindness, congenital stationary type 3 |
372 | GNAT1 |
373 | Night blindness, congenital stationary, autosomal dominant type 2 |
374 | PDE6B |
375 | Night blindness, congenital stationary, type 1E |
376 | GPR179 |
377 | Nonarteritic anterior ischemic optic neuropathy |
378 | GP1BA |
379 | Nystagmus type 1 |
380 | FRMD7 |
381 | Nystagmus type 6 |
382 | GPR143 |
383 | Occult macular dystrophy |
384 | RP1L1 |
385 | Oguchi disease |
386 | GRK1 |
387 | Oguchi disease |
388 | SAG |
389 | Ophthalmoplegia, isolated, MT-TN related |
390 | MT-TN |
391 | Optic atrophy type 1 |
392 | OPA1 |
393 | Optic atrophy type 3 |
394 | OPA3 |
395 | Optic atrophy type 7 |
396 | TMEM126A |
397 | Optic atrophy type 9 |
398 | ACO2 |
399 | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy |
400 | OPA1 |
401 | Patterned dystrophy of retinal pigment epithelium |
402 | PRPH2 |
403 | Peters Anomaly |
404 | CYP1B1 |
405 | Peters anomaly |
406 | PAX6 |
407 | Peters Anomaly |
408 | PITX2 |
409 | Peters-Plus syndrome |
410 | B3GLCT |
411 | Pigmented paravenous chorioretinal atrophy |
412 | CRB1 |
413 | Plasminogen deficiency type 1 |
414 | PLG |
415 | Progressive external ophthalmoplegia with mitochondrial deletions type 1, autosomal dominant |
416 | POLG |
417 | Progressive external ophthalmoplegia with mitochondrial deletions type 1, autosomal recessive |
418 | POLG |
419 | Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal recessive |
420 | RNASEH1 |
421 | Progressive external ophthalmoplegia with mitochondrial deletions type 3, autosomal dominant |
422 | TWNK |
423 | Progressive external ophthalmoplegia with mitochondrial deletions type 4, autosomal dominant |
424 | POLG2 |
425 | Progressive external ophthalmoplegia with mitochondrial deletions type 6, autosomal dominant |
426 | DNA2 |
427 | Retinal cone dystrophy type 3B |
428 | KCNV2 |
429 | Retinal cone dystrophy type 4 |
430 | CACNA2D4 |
431 | Retinal degeneration, late-onset, autosomal dominant |
432 | C1QTNF5 |
433 | Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities |
434 | ITM2B |
435 | Retinal dystrophy, juvenile cataracts, and short stature syndrome |
436 | RDH11 |
437 | Retinal nonattachment nonsyndromic congenital |
438 | ATOH7 |
439 | Retinitis pigmentosa juvenile |
440 | LRAT |
441 | Retinitis pigmentosa SEMA4C related |
442 | SEMA4C |
443 | Retinitis pigmentosa type 1, autosomal dominant |
444 | RP1 |
445 | Retinitis pigmentosa type 10, autosomal dominant |
446 | IMPDH1 |
447 | Retinitis pigmentosa type 11, autosomal dominant |
448 | PRPF31 |
449 | Retinitis pigmentosa type 12, autosomal recessive |
450 | CRB1 |
451 | Retinitis pigmentosa type 13, autosomal dominant |
452 | PRPF8 |
453 | Retinitis pigmentosa type 14, autosomal recessive |
454 | TULP1 |
455 | Retinitis pigmentosa type 17, autosomal dominant |
456 | CA4 |
457 | Retinitis pigmentosa type 18, autosomal dominant |
458 | PRPF3 |
459 | Retinitis pigmentosa type 19, autosomal recessive |
460 | ABCA4 |
461 | Retinitis pigmentosa type 2 X-linked |
462 | RP2 |
463 | Retinitis pigmentosa type 20, autosomal recessive |
464 | RPE65 |
465 | Retinitis pigmentosa type 23 X-linked |
466 | OFD1 |
467 | Retinitis pigmentosa type 25 |
468 | EYS |
469 | Retinitis pigmentosa type 26, autosomal recessive |
470 | CERKL |
471 | Retinitis pigmentosa type 27, autosomal dominant |
472 | NRL |
473 | Retinitis pigmentosa type 28, autosomal recessive |
474 | FAM161A |
475 | Retinitis pigmentosa type 3 X-linked |
476 | RPGR |
477 | Retinitis pigmentosa type 30, autosomal dominant |
478 | FSCN2 |
479 | Retinitis pigmentosa type 31, autosomal dominant |
480 | TOPORS |
481 | Retinitis pigmentosa type 33, autosomal dominant |
482 | SNRNP200 |
483 | Retinitis pigmentosa type 35, autosomal dominant/recessive |
484 | SEMA4A |
485 | Retinitis pigmentosa type 36, autosomal recessive |
486 | PRCD |
487 | Retinitis pigmentosa type 38, autosomal recessive |
488 | MERTK |
489 | Retinitis pigmentosa type 39 |
490 | USH2A |
491 | Retinitis pigmentosa type 4, autosomal dominant/recessive |
492 | RHO |
493 | Retinitis pigmentosa type 40, autosomal recessive |
494 | PDE6B |
495 | Retinitis pigmentosa type 41, autosomal recessive |
496 | PROM1 |
497 | Retinitis pigmentosa type 42, autosomal dominant |
498 | KLHL7 |
499 | Retinitis pigmentosa type 43, autosomal recessive |
500 | PDE6A |
501 | Retinitis pigmentosa type 44, autosomal dominant/recessive |
502 | RGR |
503 | Retinitis pigmentosa type 45, autosomal recessive |
504 | CNGB1 |
505 | Retinitis pigmentosa type 46, autosomal recessive |
506 | IDH3B |
507 | Retinitis pigmentosa type 47, autosomal recessive |
508 | SAG |
509 | Retinitis pigmentosa type 48, autosomal dominant |
510 | GUCA1B |
511 | Retinitis pigmentosa type 49, autosomal recessive |
512 | CNGA1 |
513 | Retinitis pigmentosa type 50, autosomal dominant |
514 | BEST1 |
515 | Retinitis pigmentosa type 51, autosomal recessive |
516 | TTC8 |
517 | Retinitis pigmentosa type 53, autosomal recessive |
518 | RDH12 |
519 | Retinitis pigmentosa type 54, autosomal recessive |
520 | PCARE |
521 | Retinitis pigmentosa type 55, autosomal recessive |
522 | ARL6 |
523 | Retinitis pigmentosa type 56, autosomal recessive |
524 | IMPG2 |
525 | Retinitis pigmentosa type 57, autosomal recessive |
526 | PDE6G |
527 | Retinitis pigmentosa type 58, autosomal recessive |
528 | ZNF513 |
529 | Retinitis pigmentosa type 59, autosomal recessive |
530 | DHDDS |
531 | Retinitis pigmentosa type 60 |
532 | PRPF6 |
533 | Retinitis pigmentosa type 61, autosomal recessive |
534 | CLRN1 |
535 | Retinitis pigmentosa type 62, autosomal recessive |
536 | MAK |
537 | Retinitis pigmentosa type 64, autosomal recessive |
538 | C8ORF37 |
539 | Retinitis pigmentosa type 66, autosomal recessive |
540 | RBP3 |
541 | Retinitis pigmentosa type 7 |
542 | ROM1 |
543 | Retinitis pigmentosa type 7, autosomal dominant |
544 | PRPH2 |
545 | Retinitis pigmentosa type 74, autosomal recessive |
546 | BBS2 |
547 | Retinitis pigmentosa type 9, autosomal dominant |
548 | RP9 |
549 | Retinitis pigmentosa, juvenile, autosomal recessive |
550 | SPATA7 |
551 | Retinitis punctata albescens |
552 | RHO |
553 | Retinoschisis |
554 | RS1 |
555 | Revesz syndrome |
556 | TINF2 |
557 | Ring dermoid of cornea |
558 | PITX2 |
559 | Senior-Loken syndrome type 5 |
560 | IQCB1 |
561 | Sorsby fundus dystrophy |
562 | TIMP3 |
563 | Stargardt Disease type 1 |
564 | ABCA4 |
565 | Stargardt Disease type 1 |
566 | CNGB3 |
567 | Stargardt Disease type 3 |
568 | ELOVL4 |
569 | Stargardt Disease type 4 |
570 | PROM1 |
571 | Stickler syndrome type 1 |
572 | COL2A1 |
573 | Stickler syndrome type 1, nonsyndromic ocular |
574 | COL2A1 |
575 | Stickler syndrome type 2 |
576 | COL11A1 |
577 | Stickler syndrome type 3 |
578 | COL11A2 |
579 | Stickler syndrome type 5 |
580 | COL9A2 |
581 | Stickler syndrome, autosomal recessive |
582 | COL9A1 |
583 | Sveinsson choreoretinal atrophy |
584 | TEAD1 |
585 | Usher syndrome type 1D |
586 | CDH23 |
587 | Usher syndrome type 1D/F |
588 | PCDH15 |
589 | Usher syndrome type 1G |
590 | USH1G |
591 | Usher syndrome type 1J |
592 | CIB2 |
593 | Usher syndrome type 2C |
594 | ADGRV1 |
595 | Usher syndrome type 2C |
596 | PDZD7 |
597 | Usher syndrome type 2D |
598 | WHRN |
599 | Usher syndrome type 3A |
600 | CLRN1 |
601 | Vitreoretinochoroidopathy |
602 | BEST1 |
603 | Waardenburg syndrome/albinism |
604 | MITF |
605 | Waardenburg syndrome/albinism |
606 | TYR |
607 | Wagner syndrome |
608 | VCAN |
609 | Warburg micro syndrome 3 |
610 | RAB18 |
611 | Warburg micro syndrome type 1 |
612 | RAB3GAP1 |
613 | Weill-Marchesani syndrome - AR |
614 | ADAMTS10 |
615 | Weill-Marchesani syndrome, dominant type 2 |
616 | FBN1 |
617 | Wolfram syndrome type 1 |
618 | WFS1 |
619 | Wolfram syndrome type 2 |
620 | CISD2 |
621 | Wolfram-like syndrome, autosomal dominant |
622 | WFS1 |
No. | Sdescription |
---|---|
1 | Amyotrophic lateral sclerosis (ALS) panel |
2 | Ataxia comprehensive panel |
3 | Ataxia panel |
4 | Ataxia repeat expansion panel |
5 | Dementia panel |
6 | Dystonia panel |
7 | Epilepsy panel |
8 | Intellectual disability panel |
9 | Neuromuscular panel |
10 | Parkinson disease panel |
11 | Spastic paraplegia panel |
No. | Description |
---|---|
1 | Alport syndrome, autosomal recessive |
2 | COL4A3 |
3 | Alport syndrome, autosomal recessive |
4 | COL4A4 |
5 | Alport syndrome, X-Linked |
6 | COL4A5 |
7 | Auditory neuropathy, autosomal dominant |
8 | DIAPH3 |
9 | Auriculocondylar syndrome type 2 |
10 | PLCB4 |
11 | Branchiootic syndrome type 1 |
12 | EYA1 |
13 | Brown-Vialetto-Van Laere syndrome 1 |
14 | SLC52A3 |
15 | Brown-Vialetto-Van Laere syndrome type 2 |
16 | SLC52A2 |
17 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia |
18 | IARS2 |
19 | Ciliogenesis related disorder |
20 | PTPN23 |
21 | Deafness and male infertility, CATSPER2 related |
22 | CATSPER2 |
23 | Deafness with keratopachydermia and constrictions of fingers and toes |
24 | GJB2 |
25 | Deafness, autosomal dominant type 1 |
26 | DIAPH1 |
27 | Deafness, autosomal dominant type 10 |
28 | EYA4 |
29 | Deafness, autosomal dominant type 11 |
30 | MYO7A |
31 | Deafness, autosomal dominant type 12 |
32 | TECTA |
33 | Deafness, autosomal dominant type 13 |
34 | COL11A2 |
35 | Deafness, autosomal dominant type 15 |
36 | POU4F3 |
37 | Deafness, autosomal dominant type 17 |
38 | MYH9 |
39 | Deafness, autosomal dominant type 20 |
40 | ACTG1 |
41 | Deafness, autosomal dominant type 22 |
42 | MYO6 |
43 | Deafness, autosomal dominant type 23 |
44 | SIX1 |
45 | Deafness, autosomal dominant type 25 |
46 | SLC17A8 |
47 | Deafness, autosomal dominant type 28 |
48 | GRHL2 |
49 | Deafness, autosomal dominant type 2A |
50 | KCNQ4 |
51 | Deafness, autosomal dominant type 2B |
52 | GJB3 |
53 | Deafness, autosomal dominant type 36 |
54 | TMC1 |
55 | Deafness, autosomal dominant type 39, with dentinogenesis type 1 |
56 | DSPP |
57 | Deafness, autosomal dominant type 3A |
58 | GJB2 |
59 | Deafness, autosomal dominant type 3B |
60 | GJB6 |
61 | Deafness, autosomal dominant type 4 |
62 | MYH14 |
63 | Deafness, autosomal dominant type 40 |
64 | CRYM |
65 | Deafness, autosomal dominant type 44 |
66 | CCDC50 |
67 | Deafness, autosomal dominant type 48 |
68 | MYO1A |
69 | Deafness, autosomal dominant type 4B |
70 | CEACAM16 |
71 | Deafness, autosomal dominant type 5 |
72 | GSDME |
73 | Deafness, autosomal dominant type 52 |
74 | POU4F3 |
75 | Deafness, autosomal dominant type 6 |
76 | WFS1 |
77 | Deafness, autosomal dominant type 64 |
78 | DIABLO |
79 | Deafness, autosomal dominant type 65 |
80 | TBC1D24 |
81 | Deafness, autosomal dominant type 9 |
82 | COCH |
83 | Deafness, autosomal recessive |
84 | GJB3 |
85 | Deafness, autosomal recessive |
86 | SUN1 |
87 | Deafness, autosomal recessive type 12 |
88 | CDH23 |
89 | Deafness, autosomal recessive type 15 |
90 | GIPC3 |
91 | Deafness, autosomal recessive type 16 |
92 | STRC |
93 | Deafness, autosomal recessive type 18 |
94 | USH1C |
95 | Deafness, autosomal recessive type 1A |
96 | GJB2 |
97 | Deafness, autosomal recessive type 1B |
98 | GJB6 |
99 | Deafness, autosomal recessive type 2 |
100 | MYO7A |
101 | Deafness, autosomal recessive type 22 |
102 | OTOA |
103 | Deafness, autosomal recessive type 23 |
104 | PCDH15 |
105 | Deafness, autosomal recessive type 24 |
106 | RDX |
107 | Deafness, autosomal recessive type 25 |
108 | GRXCR1 |
109 | Deafness, autosomal recessive type 28 |
110 | TRIOBP |
111 | Deafness, autosomal recessive type 29 |
112 | CLDN14 |
113 | Deafness, autosomal recessive type 3 |
114 | MYO15A |
115 | Deafness, autosomal recessive type 30 |
116 | MYO3A |
117 | Deafness, autosomal recessive type 31 |
118 | WHRN |
119 | Deafness, autosomal recessive type 35 |
120 | ESRRB |
121 | Deafness, autosomal recessive type 36 |
122 | ESPN |
123 | Deafness, autosomal recessive type 39 |
124 | HGF |
125 | Deafness, autosomal recessive type 4 |
126 | FOXI1 |
127 | Deafness, autosomal recessive type 42 |
128 | ILDR1 |
129 | Deafness, autosomal recessive type 48 |
130 | CIB2 |
131 | Deafness, autosomal recessive type 49 |
132 | MARVELD2 |
133 | Deafness, autosomal recessive type 53 |
134 | COL11A2 |
135 | Deafness, autosomal recessive type 59 |
136 | PJVK |
137 | Deafness, autosomal recessive type 6 |
138 | TMIE |
139 | Deafness, autosomal recessive type 61 |
140 | SLC26A5 |
141 | Deafness, autosomal recessive type 63 |
142 | LRTOMT |
143 | Deafness, autosomal recessive type 66 |
144 | DCDC2 |
145 | Deafness, autosomal recessive type 67 |
146 | LHFPL5 |
147 | Deafness, autosomal recessive type 7 |
148 | TMC1 |
149 | Deafness, autosomal recessive type 70 |
150 | PNPT1 |
151 | Deafness, autosomal recessive type 74 |
152 | MSRB3 |
153 | Deafness, autosomal recessive type 76 |
154 | SYNE4 |
155 | Deafness, autosomal recessive type 77 |
156 | LOXHD1 |
157 | Deafness, autosomal recessive type 79 |
158 | TPRN |
159 | Deafness, autosomal recessive type 8/10 |
160 | TMPRSS3 |
161 | Deafness, autosomal recessive type 86 |
162 | TBC1D24 |
163 | Deafness, autosomal recessive type 89 |
164 | KARS1 |
165 | Deafness, autosomal recessive type 9 |
166 | OTOF |
167 | Deafness, autosomal recessive type 91 |
168 | SERPINB6 |
169 | Deafness, autosomal recessive type 93 |
170 | CABP2 |
171 | Deafness, congenital with inner ear agenesis, microtia, and microdontia |
172 | FGF3 |
173 | Deafness, dystonia, and cerebral hypomyelination, X-linked |
174 | BCAP31 |
175 | Deafness, nonsyndromic, sensorineural, mitochondrial |
176 | MT-RNR1 |
177 | Deafness, X-linked type 1 |
178 | PRPS1 |
179 | Deafness, X-linked type 2 |
180 | POU3F4 |
181 | Deafness, X-linked type 4 |
182 | SMPX |
183 | Deafness, X-linked type 5 |
184 | AIFM1 |
185 | Deafness, X-linked type 6 |
186 | COL4A6 |
187 | Fazio-Londe disease |
188 | SLC52A3 |
189 | Hearing loss, MAP1A related |
190 | MAP1A |
191 | Hearing loss, MYH7B related |
192 | MYH7B |
193 | Heimler syndrome type 1 |
194 | PEX1 |
195 | Keratitis ichthyosis deafness syndrome autosomal dominant |
196 | GJB2 |
197 | Keratoderma, palmoplantar, with deafness |
198 | GJB2 |
199 | Knuckle pads and leukonychia sensorineural deafness |
200 | GJB2 |
201 | Marshall syndrome |
202 | COL11A1 |
203 | Mitochondrial modifier of deafness |
204 | TRMU |
205 | Opticoacoustic nerve atrophy with dementia |
206 | TIMM8A |
207 | Otopaladigital syndrome type 1 |
208 | FLNA |
209 | Otopaladigital syndrome type 2 |
210 | FLNA |
211 | Pendred syndrome |
212 | SLC26A4 |
213 | Pneumothorax, primary spontaneous |
214 | FLCN |
215 | Primary ciliary dyskinesia type 1 |
216 | DNAI1 |
217 | Primary ciliary dyskinesia type 10 |
218 | DNAAF2 |
219 | Primary ciliary dyskinesia type 11 |
220 | RSPH4A |
221 | Primary ciliary dyskinesia type 12 |
222 | RSPH9 |
223 | Primary ciliary dyskinesia type 13 |
224 | DNAAF1 |
225 | Primary ciliary dyskinesia type 14 |
226 | CCDC39 |
227 | Primary ciliary dyskinesia type 15 |
228 | CCDC40 |
229 | Primary ciliary dyskinesia type 16 |
230 | DNAL1 |
231 | Primary ciliary dyskinesia type 17 |
232 | CCDC103 |
233 | Primary ciliary dyskinesia type 18 |
234 | DNAAF5 |
235 | Primary ciliary dyskinesia type 19 |
236 | LRRC6 |
237 | Primary ciliary dyskinesia type 2 |
238 | DNAAF3 |
239 | Primary ciliary dyskinesia type 20 |
240 | CCDC114 |
241 | Primary ciliary dyskinesia type 23 |
242 | ARMC4 |
243 | Primary ciliary dyskinesia type 24 |
244 | RSPH1 |
245 | Primary ciliary dyskinesia type 25 |
246 | DYX1C1 |
247 | Primary ciliary dyskinesia type 26 |
248 | CFAP298 |
249 | Primary ciliary dyskinesia type 27 |
250 | CCDC65 |
251 | Primary ciliary dyskinesia type 28 |
252 | SPAG1 |
253 | Primary ciliary dyskinesia type 29 |
254 | CCNO |
255 | Primary ciliary dyskinesia type 3 |
256 | DNAH5 |
257 | Primary ciliary dyskinesia type 5 |
258 | HYDIN |
259 | Primary ciliary dyskinesia type 6 |
260 | NME8 |
261 | Primary ciliary dyskinesia type 7 |
262 | DNAH11 |
263 | Primary ciliary dyskinesia type 9 |
264 | DNAI2 |
265 | Primary ciliary dyskinesia, DNAH9 related |
266 | DNAH9 |
267 | Progressive hearing loss |
268 | P2RX2 |
269 | Pulmonary fibrosis, idiopathic |
270 | SFTPA2 |
271 | Sinoatrial node dysfunction and deafness |
272 | CACNA1D |
273 | Tietz albinism-deafness syndrome |
274 | MITF |
275 | Wolfram syndrome type 1 |
276 | WFS1 |
277 | Wolfram syndrome type 2 |
278 | CISD2 |
279 | Wolfram-like syndrome, autosomal dominant |
280 | WFS1 |
No. | Description |
---|---|
1 | Alveolar capillary dysplasia with misalignment of pulmonary veins |
2 | FOXF1 |
3 | Arrhythmogenic right ventricular cardiomyopathy type 1 |
4 | TGFB3 |
5 | Arrhythmogenic right ventricular cardiomyopathy type 10 |
6 | DSG2 |
7 | Arrhythmogenic right ventricular cardiomyopathy type 11 |
8 | DSC2 |
9 | Arrhythmogenic right ventricular cardiomyopathy type 12 |
10 | JUP |
11 | Arrhythmogenic right ventricular cardiomyopathy type 5 |
12 | TMEM43 |
13 | Arrhythmogenic right ventricular cardiomyopathy type 8 |
14 | DSP |
15 | Arrhythmogenic right ventricular cardiomyopathy type 9 |
16 | PKP2 |
17 | Arrhythmogenic right ventricular dysplasia type 2 |
18 | RYR2 |
19 | Atrial fibrillation type 10 |
20 | SCN5A |
21 | Atrial fibrillation type 11 |
22 | GJA5 |
23 | Atrial fibrillation type 12 |
24 | ABCC9 |
25 | Atrial fibrillation type 3 |
26 | KCNQ1 |
27 | Atrial fibrillation type 4 |
28 | KCNE2 |
29 | Atrial fibrillation type 6 |
30 | NPPA |
31 | Atrial fibrillation type 7 |
32 | KCNA5 |
33 | Atrial septal defect type 3 |
34 | MYH6 |
35 | Atrial septal defect type 4 |
36 | TBX20 |
37 | Atrial septal defect type 5 |
38 | ACTC1 |
39 | Atrial septal defect type 6 |
40 | TLL1 |
41 | Atrial septal defect type 8 |
42 | CITED2 |
43 | Atrial septal defect type 9 |
44 | GATA6 |
45 | Atrioventricular septal defect type 4 |
46 | GATA4 |
47 | Atrioventricular septal defect type 5 |
48 | GATA6 |
49 | Barth syndrome |
50 | TAZ |
51 | Bicuspid aortic valve |
52 | TIMP1 |
53 | Brugada syndrome type 1 |
54 | SCN5A |
55 | Brugada syndrome type 2 |
56 | GPD1L |
57 | Brugada syndrome type 3 |
58 | CACNA1C |
59 | Brugada syndrome type 4 |
60 | CACNB2 |
61 | Brugada syndrome type 5 |
62 | SCN1B |
63 | Brugada syndrome type 6 |
64 | KCNE3 |
65 | Brugada syndrome type 7 |
66 | SCN3B |
67 | Brugada syndrome type 8 |
68 | HCN4 |
69 | Brugada syndrome type 9 |
70 | SLMAP |
71 | Cardiac defects, CNOT3 related |
72 | CNOT3 |
73 | Cardiac defects, PPP1R8 related |
74 | PPP1R8 |
75 | Cardiac valvular dysplesia, X-linked |
76 | FLNA |
77 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency |
78 | SCO2 |
79 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 2 |
80 | COX15 |
81 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 3 |
82 | COA5 |
83 | Cardiofaciocutaneous syndrome |
84 | BRAF |
85 | Cardiofaciocutaneous syndrome |
86 | KRAS |
87 | Cardiofaciocutaneous syndrome type 3 |
88 | MAP2K1 |
89 | Cardiofaciocutaneous syndrome type 4 |
90 | MAP2K2 |
91 | Cardiomyopathy, apical hypertrophic, and neuropathy, MT-ATP8 related |
92 | MT-ATP8 |
93 | Cardiomyopathy, dilated |
94 | MYBPC3 |
95 | Cardiomyopathy, dilated type 1 |
96 | CRYAB |
97 | Cardiomyopathy, dilated type 1A |
98 | LMNA |
99 | Cardiomyopathy, dilated type 1AA |
100 | ACTN2 |
101 | Cardiomyopathy, dilated type 1BB |
102 | DSG2 |
103 | Cardiomyopathy, dilated type 1C |
104 | LDB3 |
105 | Cardiomyopathy, dilated type 1CC |
106 | NEXN |
107 | Cardiomyopathy, dilated type 1D |
108 | TNNT2 |
109 | Cardiomyopathy, dilated type 1DD |
110 | RBM20 |
111 | Cardiomyopathy, dilated type 1E |
112 | SCN5A |
113 | Cardiomyopathy, dilated type 1EE |
114 | MYH6 |
115 | Cardiomyopathy, dilated type 1G |
116 | TTN |
117 | Cardiomyopathy, dilated type 1GG |
118 | SDHA |
119 | Cardiomyopathy, dilated type 1HH |
120 | BAG3 |
121 | Cardiomyopathy, dilated type 1I |
122 | DES |
123 | Cardiomyopathy, dilated type 1J |
124 | EYA4 |
125 | Cardiomyopathy, dilated type 1KK |
126 | MYPN |
127 | Cardiomyopathy, dilated type 1L |
128 | SGCD |
129 | Cardiomyopathy, dilated type 1LL |
130 | PRDM16 |
131 | Cardiomyopathy, dilated type 1M |
132 | CSRP3 |
133 | Cardiomyopathy, dilated type 1N |
134 | TCAP |
135 | Cardiomyopathy, dilated type 1O |
136 | ABCC9 |
137 | Cardiomyopathy, dilated type 1P |
138 | PLN |
139 | Cardiomyopathy, dilated type 1R |
140 | ACTC1 |
141 | Cardiomyopathy, dilated type 1S |
142 | MYH7 |
143 | Cardiomyopathy, dilated type 1T |
144 | TMPO |
145 | Cardiomyopathy, dilated type 1U |
146 | PSEN1 |
147 | Cardiomyopathy, dilated type 1V |
148 | PSEN2 |
149 | Cardiomyopathy, dilated type 1W |
150 | VCL |
151 | Cardiomyopathy, dilated type 1X |
152 | FKTN |
153 | Cardiomyopathy, dilated type 1Y |
154 | TPM1 |
155 | Cardiomyopathy, dilated type 1Z |
156 | TNNC1 |
157 | Cardiomyopathy, dilated type 2A |
158 | TNNI3 |
159 | Cardiomyopathy, dilated type 2B |
160 | GATAD1 |
161 | Cardiomyopathy, dilated type 3B |
162 | DMD |
163 | Cardiomyopathy, dilated with ataxia |
164 | DNAJC19 |
165 | Cardiomyopathy, dilated with hypergonadotropic hypogonadism |
166 | LMNA |
167 | Cardiomyopathy, dilated with woolly hair and keratoderma |
168 | DSP |
169 | Cardiomyopathy, familial hypertrophic |
170 | CAV3 |
171 | Cardiomyopathy, familial hypertrophic type 1 |
172 | MYH7 |
173 | Cardiomyopathy, familial hypertrophic type 10 |
174 | MYL2 |
175 | Cardiomyopathy, familial hypertrophic type 11 |
176 | ACTC1 |
177 | Cardiomyopathy, familial hypertrophic type 12 |
178 | CSRP3 |
179 | Cardiomyopathy, familial hypertrophic type 16 |
180 | MYOZ2 |
181 | Cardiomyopathy, familial hypertrophic type 17 |
182 | JPH2 |
183 | Cardiomyopathy, familial hypertrophic type 19 |
184 | CALR3 |
185 | Cardiomyopathy, familial hypertrophic type 2 |
186 | TNNT2 |
187 | Cardiomyopathy, familial hypertrophic type 3 |
188 | TPM1 |
189 | Cardiomyopathy, familial hypertrophic type 4 |
190 | MYBPC3 |
191 | Cardiomyopathy, familial hypertrophic type 6 |
192 | PRKAG2 |
193 | Cardiomyopathy, familial hypertrophic type 7 |
194 | TNNI3 |
195 | Cardiomyopathy, familial hypertrophic type 8 |
196 | MYL3 |
197 | Cardiomyopathy, familial hypertrophic type 9 |
198 | TTN |
199 | Cardiomyopathy, familial restrictive type 1 |
200 | TNNI3 |
201 | Cardiomyopathy, fatal, MT-TI related |
202 | MT-TI |
203 | Cardiomyopathy, hypertrophic, midventricular, digenic |
204 | MYLK2 |
205 | Cardiomyopathy, hypertrophic, MT-TG related |
206 | MT-TG |
207 | Cardiomyopathy, hypertrophic, type 18 |
208 | PLN |
209 | Cardiomyopathy, idiopathic dilated, mitochondrial, MT-TH related |
210 | MT-TH |
211 | Cardiomyopathy, infantile hypertrophic, MT-ATP8 related |
212 | MT-ATP8 |
213 | Cardiomyopathy, left ventricular noncompaction, MYH7B related |
214 | MYH7B |
215 | Central hypoventilation syndrome with or without Hirschsprung disease |
216 | PHOX2B |
217 | Central hypoventilation syndrome, congenital |
218 | ASCL1 |
219 | Congenital heart defects and ectodermal dysplasia |
220 | PRKD1 |
221 | Congenital heart defects multiple types |
222 | GATA5 |
223 | Congenital heart defects multiple types |
224 | TAB2 |
225 | Coronary heart disease, susceptibility to, type 6 |
226 | MMP3 |
227 | CR1 deficiency |
228 | CR1 |
229 | Danon disease |
230 | LAMP2 |
231 | Diaphragmatic hernia type 3 |
232 | ZFPM2 |
233 | Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis |
234 | DSP |
235 | Dopamine beta-hydroxylase (DBH) deficiency |
236 | DBH |
237 | Familial atrial fibrillation type 13 |
238 | SCN1B |
239 | Heart block, progressive, familial, type 1A |
240 | SCN5A |
241 | Heart-hand syndrome, Slovenian type |
242 | LMNA |
243 | Jervell and Lange-Nielsen syndrome type 1 |
244 | KCNQ1 |
245 | Jervell and Lange-Nielsen syndrome type 2 |
246 | KCNE1 |
247 | Left ventricular noncompaction 1, with or without congenital heart defects |
248 | DTNA |
249 | Left ventricular noncompaction 7 |
250 | MIB1 |
251 | Legionnaire disease, susceptibility to |
252 | TLR5 |
253 | Long QT syndrome type 1 |
254 | KCNQ1 |
255 | Long QT syndrome type 10 |
256 | SCN4B |
257 | Long QT syndrome type 11 |
258 | AKAP9 |
259 | Long QT syndrome type 12 |
260 | SNTA1 |
261 | Long QT syndrome type 13 |
262 | KCNJ5 |
263 | Long QT syndrome type 15 |
264 | CALM2 |
265 | Long QT syndrome type 2 |
266 | KCNH2 |
267 | Long QT syndrome type 3 |
268 | SCN5A |
269 | Long QT syndrome type 4 |
270 | ANK2 |
271 | Long QT syndrome type 5 |
272 | KCNE1 |
273 | Long QT syndrome type 6 |
274 | KCNE2 |
275 | Long QT syndrome type 8 |
276 | CACNA1C |
277 | Long QT syndrome type 9 |
278 | CAV3 |
279 | Marfan syndrome |
280 | FBN1 |
281 | MASS syndrome |
282 | FBN1 |
283 | McKusick-Kaufman syndrome |
284 | MKKS |
285 | MELAS syndrome |
286 | MT-TC |
287 | MELAS syndrome |
288 | MT-TF |
289 | MELAS syndrome, MT-TL1 related |
290 | MT-TL1 |
291 | MERRF/MELAS overlap syndrome, MT-TS1 related |
292 | MT-TS1 |
293 | MERRF/MELAS overlap syndrome, MT-TS2 related |
294 | MT-TS2 |
295 | Mitochondrial myopathy and sideroblastic anemia type 1 |
296 | PUS1 |
297 | Mitochondrial myopathy, infantile, transient, MT-TE related |
298 | MT-TE |
299 | Mitochondrial myopathy, isolated |
300 | MT-TD |
301 | Mitochondrial myopathy, MT-TA related |
302 | MT-TA |
303 | Mitochondrial myopathy, MT-TM related |
304 | MT-TM |
305 | Mitochondrial phosphate carrier deficiency |
306 | SLC25A3 |
307 | Moyamoya disease type 5 |
308 | ACTA2 |
309 | Multisystemic smooth muscle dysfunction syndrome |
310 | ACTA2 |
311 | Myopathy, MT-TQ related |
312 | MT-TQ |
313 | Pancreatic agenesis and congenital heart defects |
314 | GATA6 |
315 | Progressive familial heart block |
316 | TRPM4 |
317 | Pulmonary fibrosis, idiopathic |
318 | SFTPA1 |
319 | Pulmonary newborn hypertension |
320 | CRHR1 |
321 | Pulmonary venoocclusive disease type 2 |
322 | EIF2AK4 |
323 | Sengers syndrome |
324 | AGK |
325 | Short QT syndrome type 1 |
326 | KCNH2 |
327 | Short QT syndrome type 2 |
328 | KCNQ1 |
329 | Short QT syndrome type 3 |
330 | KCNJ2 |
331 | Sick sinus syndrome type 1 |
332 | SCN5A |
333 | Sick sinus syndrome type 3 |
334 | MYH6 |
335 | Sinoatrial node dysfunction and deafness |
336 | CACNA1D |
337 | Sudden infant death syndrome, susceptibility to |
338 | SCN5A |
339 | Sudden infant death with dysgenesis of the testes syndrome |
340 | TSPYL1 |
341 | Testicular anomalies with or without congenital heart disease |
342 | GATA4 |
343 | Tetralogy of Fallot |
344 | ALDH1A2 |
345 | Tetralogy of Fallot |
346 | GATA4 |
347 | Tetralogy of Fallot |
348 | GATA6 |
349 | Tetralogy of Fallot |
350 | ZFPM2 |
351 | Thoracic aortic aneurysm dissection |
352 | SMAD2 |
353 | Transposition of the great arteries, dextro-looped 1 |
354 | MED13L |
355 | Ventricular fibrillation, paroxysmal familial type 1 |
356 | SCN5A |
357 | Ventricular septal defect type 1 |
358 | GATA4 |
359 | Ventricular septal defect type 2 |
360 | CITED2 |
361 | Ventricular tachycardia, catecholaminergic polymorphic type 1 |
362 | RYR2 |
363 | Ventricular tachycardia, catecholaminergic polymorphic type 2 |
364 | CASQ2 |
365 | Ventricular tachycardia, catecholaminergic polymorphic type 4 |
366 | CALM1 |
367 | Ventricular tachycardia, catecholaminergic polymorphic type 5 |
368 | TRDN |
369 | Wolff -Parkinson-White syndrome |
370 | PRKAG2 |
No. | Description |
---|---|
1 | genesis, partial, with minifascicular neuropathy |
2 | DHH |
3 | Achalasia addisonianism alacrimia syndrome |
4 | AAAS |
5 | Acrocallosal syndrome |
6 | KIF7 |
7 | Acyl-CoA peroxisomal oxidase deficiency |
8 | ACOX1 |
9 | Adrenoleukodystrophy, x-linked |
10 | ABCD1 |
11 | Adrenoleukodystrophy, x-linked |
12 | PLXNB3 |
13 | Adrenoleukodystrophy/Adrenomyeloneuropathy |
14 | ABCD1 |
15 | Agenesis of the corpus callosum with peripheral neuropathy |
16 | SLC12A6 |
17 | Aicardi-Goutieres syndrome type 1 |
18 | TREX1 |
19 | Aicardi-Goutieres syndrome type 2 |
20 | RNASEH2B |
21 | Aicardi-Goutieres syndrome type 3 |
22 | RNASEH2C |
23 | Aicardi-Goutieres syndrome type 4 |
24 | RNASEH2A |
25 | Aicardi-Goutieres syndrome type 5 |
26 | SAMHD1 |
27 | Aicardi-Goutieres syndrome type 6 |
28 | ADAR |
29 | Aicardi-Goutieres syndrome type 7 |
30 | IFIH1 |
31 | Al-Raqad syndrome |
32 | DCPS |
33 | Alexander disease |
34 | GFAP |
35 | Allan-Herndon-Dudley syndrome |
36 | SLC16A2 |
37 | Alpha-thalassemia/mental retardation syndrome |
38 | ATRX |
39 | Alternating hemiplegia of childhood type 1 |
40 | ATP1A2 |
41 | Alternating hemiplegia of childhood type 2 |
42 | ATP1A3 |
43 | Alzheimer disease type 1 |
44 | APP |
45 | Alzheimer disease type 1 |
46 | NOS3 |
47 | Alzheimer disease type 18, susceptibility to |
48 | ADAM10 |
49 | Alzheimer disease type 2 |
50 | APOE |
51 | Alzheimer disease type 3 |
52 | PSEN1 |
53 | Alzheimer disease type 4 |
54 | PSEN2 |
55 | Alzheimers disease, early onset, autosomal dominant |
56 | SORL1 |
57 | Alzheimers disease, RTN3 related |
58 | RTN3 |
59 | Amish infantile epilepsy syndrome |
60 | ST3GAL5 |
61 | Amyloidosis |
62 | TTR |
63 | Amyloidosis, finnish type |
64 | GSN |
65 | Amyotrophic lateral sclerosis risk factor |
66 | CHGB |
67 | Amyotrophic lateral sclerosis type 1 |
68 | SOD1 |
69 | Amyotrophic lateral sclerosis type 10 |
70 | TARDBP |
71 | Amyotrophic lateral sclerosis type 11 |
72 | FIG4 |
73 | Amyotrophic lateral sclerosis type 12 |
74 | OPTN |
75 | Amyotrophic lateral sclerosis type 14 |
76 | VCP |
77 | Amyotrophic lateral sclerosis type 16 |
78 | SIGMAR1 |
79 | Amyotrophic lateral sclerosis type 17 |
80 | CHMP2B |
81 | Amyotrophic lateral sclerosis type 18 |
82 | PFN1 |
83 | Amyotrophic lateral sclerosis type 2, juvenile |
84 | ALS2 |
85 | Amyotrophic lateral sclerosis type 21 |
86 | MATR3 |
87 | Amyotrophic lateral sclerosis type 4 |
88 | SETX |
89 | Amyotrophic lateral sclerosis type 6 |
90 | FUS |
91 | Amyotrophic lateral sclerosis type 8 |
92 | VAPB |
93 | Amyotrophic lateral sclerosis type 9 |
94 | ANG |
95 | Amyotrophic lateral sclerosis with frontotemporal dementia |
96 | C9orf72 |
97 | Amyotrophic lateral sclerosis, CREST related |
98 | SS18L1 |
99 | Amyotrophic lateral sclerosis, susceptibility to |
100 | NEFH |
101 | Amyotrophic lateral sclerosis, VPS54 related |
102 | VPS54 |
103 | Amyotrophic lateral sclerosis, x-linked juvenile and adult-onset ALS |
104 | UBQLN2 |
105 | Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to |
106 | TRPM7 |
107 | Amyotrophy hereditary neuralgic |
108 | 9-Sep |
109 | Angelman syndrome |
110 | chr. 15q11 |
111 | Angelman syndrome |
112 | UBE3A |
113 | Angelman-like syndrome |
114 | CDKL5 |
115 | Angelman-like syndrome |
116 | MECP2 |
117 | Arts syndrome |
118 | PRPS1 |
119 | Asperger syndrome susceptibility X-linked type 2 |
120 | NLGN3 |
121 | Ataxia and muscle hypotonia |
122 | COX20 |
123 | Ataxia telangiectasia like disorder |
124 | MRE11 |
125 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus |
126 | DNAJC3 |
127 | Ataxia, posterior column, with retinitis pigmentosa |
128 | FLVCR1 |
129 | Ataxia, progressive seizures, mental deterioration, and hearing loss, MT-TV related |
130 | MT-TV |
131 | Ataxia, sensory type 1, autosomal dominant |
132 | RNF170 |
133 | Ataxia-oculomotor apraxia type 1 |
134 | APTX |
135 | Ataxia-oculomotor apraxia type 2 |
136 | SETX |
137 | Ataxia-oculomotor apraxia type 3 |
138 | PIK3R5 |
139 | Ataxia-oculomotor apraxia type 4 |
140 | PNKP |
141 | Ataxia-telangiectasia |
142 | ATM |
143 | Attention deficit-hyperactivity disorder |
144 | DRD4 |
145 | Attention deficit-hyperactivity disorder |
146 | DRD5 |
147 | Autism spectrum disorder |
148 | AHNAK2 |
149 | Autism spectrum disorder |
150 | ANKS3 |
151 | Autism spectrum disorder |
152 | BPIFA3 |
153 | Autism spectrum disorder |
154 | EN2 |
155 | Autism spectrum disorder |
156 | RABGGTA |
157 | Autism spectrum disorder, MYO16 related |
158 | MYO16 |
159 | Autism spectrum, MXRA5 related |
160 | MXRA5 |
161 | Autism spectrum/ hyperactivity/ bipolar disorder, GRM7 related |
162 | GRM7 |
163 | Autism susceptibility, type 16 |
164 | SLC9A9 |
165 | Autism susceptibility, type 18 |
166 | CHD8 |
167 | Autism susceptibility, type 19 |
168 | EIF4E |
169 | Autism susceptibility, X-linked type 1 |
170 | NLGN3 |
171 | Autism susceptibility, X-linked type 17 |
172 | SHANK2 |
173 | Autism susceptibility, X-linked type 2 |
174 | NLGN4X |
175 | Autism susceptibility, X-linked type 3 |
176 | MECP2 |
177 | Autism susceptibility, X-linked type 4 |
178 | PTCHD1 |
179 | Autism susceptibility, X-linked type 5 |
180 | RPL10 |
181 | Autism susceptibility, X-linked type 6 |
182 | TMLHE |
183 | Autism, ATP1B4 related |
184 | ATP1B4 |
185 | Autism, AVPR1A related |
186 | AVPR1A |
187 | Autism, C7orf43 related |
188 | C7orf43 |
189 | Autism, CELF6 related |
190 | CELF6 |
191 | Autism, EFCAB13 related |
192 | EFCAB13 |
193 | Autism, FAAH2 related |
194 | FAAH2 |
195 | Autism, FCRL6 related |
196 | FCRL6 |
197 | Autism, GYG2 related |
198 | GYG2 |
199 | Autism, IQCE related |
200 | IQCE |
201 | Autism, MBD1 related |
202 | MBD1 |
203 | Autism, NTNG1 related |
204 | NTNG1 |
205 | Autism, OR13H1 related |
206 | OR13H1 |
207 | Autism, OXTR related |
208 | OXTR |
209 | Autism, PKHD1L1 related |
210 | PKHD1L1 |
211 | Autism, RNF128 related |
212 | RNF128 |
213 | Autism, RRM1 related |
214 | RRM1 |
215 | Autism, SETD2 related |
216 | SETD2 |
217 | Autism, SLC22A9 related |
218 | SLC22A9 |
219 | Autism, UNC13B related |
220 | UNC13B |
221 | Autism, ZNF778 related |
222 | ZNF778 |
223 | Autism/Mental retardation/Angelman syndrome, susceptibility to, ATP10A related |
224 | ATP10A |
225 | Bethlem myopathy |
226 | COL6A1 |
227 | Bethlem myopathy |
228 | COL6A2 |
229 | Bethlem myopathy type 1 |
230 | COL6A3 |
231 | Bethlem myopathy type 2 |
232 | COL12A1 |
233 | Borjeson-Forssman-Lehmann syndrome |
234 | PHF6 |
235 | Brody myopathy |
236 | ATP2A1 |
237 | Brunner syndrome |
238 | MAOA |
239 | Budd-Chiari syndrome |
240 | F5 |
241 | Canavan disease |
242 | ASPA |
243 | CAPOS syndrome |
244 | ATP1A3 |
245 | Cardiomyopathy, hypertrophic, type 24 |
246 | LDB3 |
247 | Cataracts with facial dysmorphism and neuropathy |
248 | CTDP1 |
249 | Central core disease |
250 | RYR1 |
251 | Central hypoventilation syndrome with or without Hirschsprung disease |
252 | PHOX2B |
253 | Central hypoventilation syndrome, congenital |
254 | ASCL1 |
255 | Centronuclear myopathy type 1 |
256 | DNM2 |
257 | Centronuclear myopathy type 1 |
258 | MTMR14 |
259 | Centronuclear myopathy type 2 |
260 | BIN1 |
261 | Centronuclear myopathy type 3 |
262 | MYF6 |
263 | Centronuclear myopathy type 4 |
264 | CCDC78 |
265 | Centronuclear myopathy type 5 |
266 | SPEG |
267 | Cerebellar ataxia |
268 | CP |
269 | Cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 3 |
270 | CA8 |
271 | Cerebellar ataxia with deafness and narcolepsy, autosomal recessive |
272 | DNMT1 |
273 | Cerebellar ataxia with mental retardation and dysequilibrium syndrome type 2 |
274 | WDR81 |
275 | Cerebellar ataxia with spasticity |
276 | GBA2 |
277 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4 |
278 | ATP8A2 |
279 | Cerebellar ataxia, nonprogressive, with mental retardation |
280 | CAMTA1 |
281 | Cerebellar ataxia, SNX14 related |
282 | SNX14 |
283 | Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion type 1 |
284 | VLDLR |
285 | Cerebral amyloid angiopathy |
286 | CST3 |
287 | Cerebral amyloid angiopathy, APP related |
288 | APP |
289 | Cerebral infarction, susceptibility to |
290 | PRKCH |
291 | Cerebral palsy type 1, spastic quadriplegic |
292 | GAD1 |
293 | Cerebral palsy type 2, spastic quadriplegic |
294 | KANK1 |
295 | Cerebrotendinous xanthomatosis |
296 | CYP27A1 |
297 | Cervical dystonia |
298 | CIZ1 |
299 | Charcot-Marie-Tooth disease, axonal type 20 |
300 | DYNC1H1 |
301 | CHILD syndrome |
302 | NSDHL |
303 | Chorea, hereditary benign |
304 | NKX2-1 |
305 | Choreoacanthocytosis |
306 | VPS13A |
307 | CK syndrome |
308 | NSDHL |
309 | CMT1A |
310 | PMP22 |
311 | CMT1B |
312 | MPZ |
313 | CMT1C |
314 | LITAF |
315 | CMT1D |
316 | EGR2 |
317 | CMT1E |
318 | PMP22 |
319 | CMT2A1 |
320 | KIF1B |
321 | CMT2A2 |
322 | MFN2 |
323 | CMT2B |
324 | RAB7A |
325 | CMT2B1 |
326 | LMNA |
327 | CMT2B2 |
328 | MED25 |
329 | CMT2C |
330 | TRPV4 |
331 | CMT2D |
332 | GARS1 |
333 | CMT2F |
334 | HSPB1 |
335 | CMT2I |
336 | MPZ |
337 | CMT2J |
338 | MPZ |
339 | CMT2K |
340 | GDAP1 |
341 | CMT2L |
342 | HSPB8 |
343 | CMT2N |
344 | AARS1 |
345 | CMT2P |
346 | LRSAM1 |
347 | CMT4, CTDP1 related |
348 | CTDP1 |
349 | CMT4A |
350 | GDAP1 |
351 | CMT4B1 |
352 | MTMR2 |
353 | CMT4B2 |
354 | SBF2 |
355 | CMT4C |
356 | SH3TC2 |
357 | CMT4D |
358 | NDRG1 |
359 | CMT4E |
360 | EGR2 |
361 | CMT4E |
362 | MPZ |
363 | CMT4F |
364 | PRX |
365 | CMT4H |
366 | FGD4 |
367 | CMT4J |
368 | FIG4 |
369 | CMTDIF |
370 | GNB4 |
371 | CMTRIB |
372 | KARS1 |
373 | CMTRID |
374 | COX6A1 |
375 | CMTX1 |
376 | GJB1 |
377 | CMTX4 |
378 | AIFM1 |
379 | CMTX5 |
380 | PRPS1 |
381 | COACH syndrome |
382 | CC2D2A |
383 | COACH syndrome |
384 | RPGRIP1L |
385 | COACH syndrome |
386 | TMEM67 |
387 | Coenzyme Q10 deficiency type 1 |
388 | COQ2 |
389 | Coenzyme Q10 deficiency type 2 |
390 | PDSS1 |
391 | Coenzyme Q10 deficiency type 3 |
392 | PDSS2 |
393 | Coenzyme Q10 deficiency type 5 |
394 | COQ9 |
395 | Coffin-Lowry syndrome |
396 | RPS6KA3 |
397 | Cohen syndrome |
398 | VPS13B |
399 | Compton-North congenital myopathy |
400 | CNTN1 |
401 | Congenital muscular dystrophy and hypoglycosylation of ?-dystroglycan |
402 | B3GALNT2 |
403 | Convulsions, benign familial infantile, 3 |
404 | SCN2A |
405 | Convulsions, familial infantile, with paroxysmal choreoathetosis |
406 | PRRT2 |
407 | Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia |
408 | IGBP1 |
409 | Cortical dysplasia, complex, with other brain malformations, type 1 |
410 | TUBB3 |
411 | Cortical dysplasia, complex, with other brain malformations, type 5 |
412 | TUBB2A |
413 | Cortical dysplasia-focal epilepsy syndrome |
414 | CNTNAP2 |
415 | Corticobasal Degeneration, CFL1 related |
416 | CFL1 |
417 | CR1 deficiency |
418 | CR1 |
419 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome |
420 | TMCO1 |
421 | Creatine deficiency syndrome X-linked |
422 | SLC6A8 |
423 | Creatine phosphokinase, elevated serum |
424 | CAV3 |
425 | Creutzfeldt-Jakob disease |
426 | PRNP |
427 | Cytochrome c oxidase 1 deficiency |
428 | MT-CO1 |
429 | Cytochrome c oxidase 2 deficiency |
430 | MT-CO2 |
431 | Cytochrome c oxidase 3 deficiency |
432 | MT-CO3 |
433 | Danon disease |
434 | LAMP2 |
435 | Dejerine-Sottas disease |
436 | EGR2 |
437 | Dejerine-Sottas disease |
438 | GJB1 |
439 | Dejerine-Sottas disease |
440 | MPZ |
441 | Dejerine-Sottas disease |
442 | PMP22 |
443 | Dejerine-Sottas disease |
444 | PRX |
445 | Dementia, familial, British type |
446 | ITM2B |
447 | Dementia, familial, Danish type |
448 | ITM2B |
449 | Dementia, frontotemporal |
450 | GRN |
451 | Dementia, frontotemporal |
452 | MAPT |
453 | Dementia, frontotemporal |
454 | PSEN1 |
455 | Dementia, frontotemporal |
456 | TARDBP |
457 | Dementia, Lewy body |
458 | SNCA |
459 | Dent disease type 2 |
460 | OCRL |
461 | Dentatorubral-pallidoluysian atrophy |
462 | ATN1 |
463 | Developmental delay and microcephaly, SLC1A4 related |
464 | SLC1A4 |
465 | Developmental delay, GNAQ related |
466 | GNAQ |
467 | Developmental delay, KMT2C related |
468 | KMT2C |
469 | DI-CMTB |
470 | DNM2 |
471 | DI-CMTC |
472 | YARS1 |
473 | DI-CMTD |
474 | MPZ |
475 | Dravet syndrome |
476 | GABRG2 |
477 | Dravet syndrome |
478 | SCN2A |
479 | Dravet syndrome, modifier of |
480 | SCN9A |
481 | Dysautonomia, FRRS1L-related |
482 | FRRS1L |
483 | Dyskinesia, familial, with facial myokymia |
484 | ADCY5 |
485 | Dyskinesia, limb and orofacial, infantile-onset |
486 | PDE10A |
487 | Dyslexia |
488 | PCDH11X |
489 | Dyssegmental dysplasia, Silverman-Handmaker type |
490 | HSPG2 |
491 | Dystonia juvenile-onset |
492 | ACTB |
493 | Dystonia, DOPA-responsive, autosomanl recessive |
494 | SPR |
495 | Dystonia-deafness syndrome |
496 | TIMM8A |
497 | DYT1 |
498 | TOR1A |
499 | DYT10 |
500 | PRRT2 |
501 | DYT11 |
502 | SGCE |
503 | DYT11, DRD2 related |
504 | DRD2 |
505 | DYT12 |
506 | ATP1A3 |
507 | DYT16 |
508 | PRKRA |
509 | DYT18 |
510 | SLC2A1 |
511 | DYT2 |
512 | HPCA |
513 | DYT23 |
514 | CACNA1B |
515 | DYT24 |
516 | ANO3 |
517 | DYT25 |
518 | GNAL |
519 | DYT26, myoclonic |
520 | KCTD17 |
521 | DYT27 |
522 | COL6A3 |
523 | DYT3 |
524 | TAF1 |
525 | DYT4 |
526 | TUBB4A |
527 | DYT5A |
528 | GCH1 |
529 | DYT6 |
530 | THAP1 |
531 | DYT8 |
532 | SLC2A1 |
533 | Early infantile epileptic encephalopathy type 1 |
534 | ARX |
535 | Early infantile epileptic encephalopathy type 10 |
536 | PNKP |
537 | Early infantile epileptic encephalopathy type 11 |
538 | SCN2A |
539 | Early infantile epileptic encephalopathy type 12 |
540 | PLCB1 |
541 | Early infantile epileptic encephalopathy type 13 |
542 | SCN8A |
543 | Early infantile epileptic encephalopathy type 14 |
544 | KCNT1 |
545 | Early infantile epileptic encephalopathy type 15 |
546 | ST3GAL3 |
547 | Early infantile epileptic encephalopathy type 16 |
548 | TBC1D24 |
549 | Early infantile epileptic encephalopathy type 17 |
550 | GNAO1 |
551 | Early infantile epileptic encephalopathy type 19 |
552 | GABRA1 |
553 | Early infantile epileptic encephalopathy type 2 |
554 | CDKL5 |
555 | Early infantile epileptic encephalopathy type 20 |
556 | PIGA |
557 | Early infantile epileptic encephalopathy type 21 |
558 | NECAP1 |
559 | Early infantile epileptic encephalopathy type 23 |
560 | DOCK7 |
561 | Early infantile epileptic encephalopathy type 24 |
562 | HCN1 |
563 | Early infantile epileptic encephalopathy type 25 |
564 | SLC13A5 |
565 | Early infantile epileptic encephalopathy type 26 |
566 | KCNB1 |
567 | Early infantile epileptic encephalopathy type 27 |
568 | GRIN2B |
569 | Early infantile epileptic encephalopathy type 28 |
570 | WWOX |
571 | Early infantile epileptic encephalopathy type 29 |
572 | AARS1 |
573 | Early infantile epileptic encephalopathy type 3 |
574 | SLC25A22 |
575 | Early infantile epileptic encephalopathy type 30 |
576 | SIK1 |
577 | Early infantile epileptic encephalopathy type 31 |
578 | DNM1 |
579 | Early infantile epileptic encephalopathy type 32 |
580 | KCNA2 |
581 | Early infantile epileptic encephalopathy type 33 |
582 | EEF1A2 |
583 | Early infantile epileptic encephalopathy type 4 |
584 | STXBP1 |
585 | Early infantile epileptic encephalopathy type 40 |
586 | GUF1 |
587 | Early infantile epileptic encephalopathy type 45 |
588 | GABRB1 |
589 | Early infantile epileptic encephalopathy type 46 |
590 | GRIN2D |
591 | Early infantile epileptic encephalopathy type 47 |
592 | FGF12 |
593 | Early infantile epileptic encephalopathy type 5 |
594 | SPTAN1 |
595 | Early infantile epileptic encephalopathy type 6 |
596 | SCN1A |
597 | Early infantile epileptic encephalopathy type 67 |
598 | CUX2 |
599 | Early infantile epileptic encephalopathy type 7 |
600 | KCNQ2 |
601 | Early infantile epileptic encephalopathy type 8 |
602 | ARHGEF9 |
603 | Early infantile epileptic encephalopathy type 9 |
604 | PCDH19 |
605 | Emery-Dreifuss muscular dystrophy type 1 |
606 | EMD |
607 | Emery-Dreifuss muscular dystrophy type 2 |
608 | LMNA |
609 | Emery-Dreifuss muscular dystrophy type 4 |
610 | SYNE1 |
611 | Emery-Dreifuss muscular dystrophy type 5 |
612 | SYNE2 |
613 | Emery-Dreifuss muscular dystrophy type 6 |
614 | FHL1 |
615 | Encephalomyopathy, mitochondrial, MT-TL2 related |
616 | MT-TL2 |
617 | Encephalomyopathy, mitochondrial, MT-TR related |
618 | MT-TR |
619 | Encephalopathy lethal, due to defective mitochondrial peroxisomal fission |
620 | DNM1L |
621 | Encephalopathy mitochondrial |
622 | VDAC1 |
623 | Encephalopathy mitochondrial with proximal renal tubulopathy due to cytochrome c oxidase deficiency |
624 | COX10 |
625 | Encephalopathy mitochondrial, MT-TW related |
626 | MT-TW |
627 | Encephalopathy neonatal severe |
628 | MECP2 |
629 | Encephalopathy thiamine-responsive |
630 | SLC19A3 |
631 | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 5 |
632 | TRAF3 |
633 | Encephalopathy, acute, necrotizing, type 1 |
634 | RANBP2 |
635 | Encephalopathy, familial, with neuroserpin inclusion bodies |
636 | SERPINI1 |
637 | Encephalopathy, progressive, with or without lipodystrophy |
638 | BSCL2 |
639 | Endplate acetylcholinesterase deficiency |
640 | COLQ |
641 | Epidermolysis bullosa simplex with muscular dystrophy |
642 | PLEC |
643 | Epidermolysis bullosa simplex, autosomal recessive type 2 |
644 | DST |
645 | Epilepsy with neurodevelopmental defects |
646 | GRIN2A |
647 | Epilepsy, childhood absence type 2 |
648 | GABRG2 |
649 | Epilepsy, childhood absence type 4, susceptibility to |
650 | GABRA1 |
651 | Epilepsy, childhood absence type 5 |
652 | GABRB3 |
653 | Epilepsy, childhood absence type 6, susceptibility to |
654 | CACNA1H |
655 | Epilepsy, familial focal with variable foci |
656 | DEPDC5 |
657 | Epilepsy, familial temporal lobe type 1 |
658 | LGI1 |
659 | Epilepsy, familial temporal lobe type 5 |
660 | CPA6 |
661 | Epilepsy, familial temporal lobe type 7 |
662 | RELN |
663 | Epilepsy, focal, SCN3A related |
664 | SCN3A |
665 | Epilepsy, HCN2 related |
666 | HCN2 |
667 | Epilepsy, hearing loss, and mental retardation syndrome |
668 | SPATA5 |
669 | Epilepsy, idiopathic generalized type 10 |
670 | GABRD |
671 | Epilepsy, idiopathic generalized type 11 |
672 | CLCN2 |
673 | Epilepsy, idiopathic generalized type 12 |
674 | SLC2A1 |
675 | Epilepsy, juvenile absence type 1 |
676 | EFHC1 |
677 | Epilepsy, nocturnal frontal lobe |
678 | KCNT1 |
679 | Epilepsy, nocturnal frontal lobe type 1 |
680 | CHRNA4 |
681 | Epilepsy, nocturnal frontal lobe type 3 |
682 | CHRNB2 |
683 | Epilepsy, nocturnal frontal lobe type 4 |
684 | CHRNA2 |
685 | Epilepsy, progressive myoclonic type 4, with or without renal failure |
686 | SCARB2 |
687 | Epilepsy, progressive myoclonic type 5 |
688 | PRICKLE2 |
689 | Epilepsy, progressive myoclonic type 7 |
690 | KCNC1 |
691 | Epilepsy, X-linked, with learning disabilities and behavior disorders |
692 | SYN1 |
693 | Epileptic encephalopathy, childhood-onset |
694 | CHD2 |
695 | Epileptic encephalopathy, Lennox-Gastaut type |
696 | MAPK10 |
697 | Episodic ataxia type 1 |
698 | KCNA1 |
699 | Episodic ataxia type 2 |
700 | CACNA1A |
No. | Description |
701 | Episodic ataxia type 5 |
702 | CACNB4 |
703 | Episodic ataxia type 6 |
704 | SLC1A3 |
705 | Episodic pain syndrome type 2, familial |
706 | SCN10A |
707 | Episodic pain syndrome type 3, familial |
708 | SCN11A |
709 | Erythermalgia, primary |
710 | SCN9A |
711 | Ethylmalonic encephalopathy |
712 | ETHE1 |
713 | Facial paresis type 3 |
714 | HOXB1 |
715 | Facioscapulohumeral dystrophy-like phenotype, FAT1 related |
716 | FAT1 |
717 | Familial hemiplegic migraine type 1 |
718 | CACNA1A |
719 | Familial hemiplegic migraine type 2 |
720 | ATP1A2 |
721 | Familial hemiplegic migraine type 3 |
722 | SCN1A |
723 | Familial infantile myoclonic epilepsy |
724 | TBC1D24 |
725 | Fatal familial imsomnia |
726 | PRNP |
727 | Febrile seizures, familial, type 4 |
728 | ADGRV1 |
729 | FG syndrome type 1 |
730 | MED12 |
731 | FG syndrome type 2 |
732 | FLNA |
733 | FG syndrome type 4 |
734 | CASK |
735 | Filaminopathy |
736 | FLNC |
737 | Fragile X syndrome |
738 | FMR1 |
739 | Fragile X tremor/ataxia syndrome |
740 | FMR1 |
741 | Friedreich ataxia |
742 | FXN |
743 | Frontometaphyseal dysplasia |
744 | FLNA |
745 | Fucosidosis |
746 | FUCA1 |
747 | Fukuyama congenital muscular dystrophy |
748 | FKTN |
749 | Gaze palsy, horizontal, with progressive scoliosis |
750 | ROBO3 |
751 | Generalized epilepsy and paroxysmal dyskinesia |
752 | KCNMA1 |
753 | Generalized epilepsy with febrile seizures plus type 1 |
754 | SCN1B |
755 | Generalized epilepsy with febrile seizures plus type 2 |
756 | SCN1A |
757 | Generalized epilepsy with febrile seizures plus type 3 |
758 | GABRG2 |
759 | Generalized epilepsy with febrile seizures plus type 7 |
760 | SCN9A |
761 | Generalized epilepsy with febrile seizures plus type 9 |
762 | STX1B |
763 | Gerstmann-Straussler disease |
764 | PRNP |
765 | Giant axonal neuropathy type 1 |
766 | GAN |
767 | Gillespie syndrome |
768 | ITPR1 |
769 | GLUT1 deficiency syndrome type 1 |
770 | SLC2A1 |
771 | Glycine encephalopathy |
772 | AMT |
773 | Glycine encephalopathy |
774 | GCSH |
775 | Glycosylation disorde type 2A |
776 | MGAT2 |
777 | Glycosylation disorde type 2C |
778 | SLC35C1 |
779 | Glycosylation disorder type 1C |
780 | ALG6 |
781 | Glycosylation disorder type 1E |
782 | DPM1 |
783 | Glycosylation disorder type 1J |
784 | DPAGT1 |
785 | Glycosylation disorder type 1M |
786 | DOLK |
787 | Glycosylation disorder type 2D |
788 | B4GALT1 |
789 | Glycosylation disorder type 2E |
790 | COG7 |
791 | Glycosylation disorder type 2F |
792 | SLC35A1 |
793 | Glycosylation disorder type 2G |
794 | COG1 |
795 | Glycosylation disorder type 2H |
796 | COG8 |
797 | GM1-gangliosidosis |
798 | GLB1 |
799 | Gordon Holmes Syndrome |
800 | RNF216 |
801 | Griscelli syndrome type 2 |
802 | RAB27A |
803 | Hereditary motor and sensory neuropathy, Okinawa type |
804 | TFG |
805 | Hereditary myopathy with early respiratory failure |
806 | TTN |
807 | Heterotopia, periventricular, ED variant |
808 | FLNA |
809 | Heterotopia, periventricular, X-linked dominant |
810 | FLNA |
811 | Hippocampal longterm potentiation, RFN39 related |
812 | RNF39 |
813 | Hoyeraal-Hreidarsson syndrome |
814 | DKC1 |
815 | HSAN1 |
816 | SPTLC1 |
817 | HSAN2A |
818 | WNK1 |
819 | HSAN2B |
820 | RETREG1 |
821 | HSAN3 |
822 | ELP1 |
823 | HSAN4 |
824 | NTRK1 |
825 | HSAN5 |
826 | NGF |
827 | HSAN8 |
828 | PRDM12 |
829 | HSN2C |
830 | KIF1A |
831 | Huntington disease |
832 | HTT |
833 | Huntington disease, ZDHHC17 related |
834 | ZDHHC17 |
835 | Huntington disease-like type 1 |
836 | PRNP |
837 | Huntington disease-like type 2 |
838 | JPH3 |
839 | Hydranencephaly with abnormal genitalia/Lissencephaly X-linked 2 |
840 | ARX |
841 | Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstraction |
842 | L1CAM |
843 | Hydrocephalus, nonsyndromic, autosomal recessive type 1 |
844 | CCDC88C |
845 | Hydrocephalus, nonsyndromic, autosomal recessive type 2 |
846 | MPDZ |
847 | Hyperekplexia |
848 | GLRA1 |
849 | Hyperekplexia |
850 | GLRB |
851 | Hyperekplexia |
852 | SLC6A5 |
853 | Hyperekplexia, EIEE8 related |
854 | ARHGEF9 |
855 | Hyperkalemic periodic paralysis |
856 | SCN4A |
857 | Hyperphenylalaninemia, BH4-deficient, B |
858 | GCH1 |
859 | Hypokalemic periodic paralysis type 1 |
860 | CACNA1S |
861 | Hypomyelination with brainstem and spinal cord involvement and leg spasticity |
862 | DARS |
863 | Inclusion body myopathy |
864 | GNE |
865 | Inclusion body myopathy |
866 | MYH2 |
867 | Infantile neuroaxonal dystrophy type 1 |
868 | PLA2G6 |
869 | Insensitivity to pain, channelopathy-associated |
870 | SCN9A |
871 | Intellectual disability nonsyndromic, CIC related |
872 | CIC |
873 | Intellectual disability nonsyndromic, CNKSR2 related |
874 | CNKSR2 |
875 | Intellectual disability, TBR1 related |
876 | TBR1 |
877 | Intestinal pseudoobstraction, neuronal |
878 | FLNA |
879 | Jensen syndrome |
880 | TIMM8A |
881 | Joubert syndrome type 1 |
882 | INPP5E |
883 | Joubert syndrome type 10 |
884 | OFD1 |
885 | Joubert syndrome type 13 |
886 | TCTN1 |
887 | Joubert syndrome type 14 |
888 | TMEM237 |
889 | Joubert syndrome type 15 |
890 | CEP41 |
891 | Joubert syndrome type 16 |
892 | TMEM138 |
893 | Joubert syndrome type 17 |
894 | CPLANE1 |
895 | Joubert syndrome type 18 |
896 | TCTN3 |
897 | Joubert syndrome type 2 |
898 | TMEM216 |
899 | Joubert syndrome type 20 |
900 | TMEM231 |
901 | Joubert syndrome type 21 |
902 | CSPP1 |
903 | Joubert syndrome type 22 |
904 | PDE6D |
905 | Joubert syndrome type 23 |
906 | KIAA0586 |
907 | Joubert syndrome type 24 |
908 | TCTN2 |
909 | Joubert syndrome type 3 |
910 | AHI1 |
911 | Joubert syndrome type 4 |
912 | NPHP1 |
913 | Joubert syndrome type 5 |
914 | CEP290 |
915 | Joubert syndrome type 6 |
916 | TMEM67 |
917 | Joubert syndrome type 7 |
918 | RPGRIP1L |
919 | Joubert syndrome type 8 |
920 | ARL13B |
921 | Joubert syndrome type 9 |
922 | CC2D2A |
923 | Joubert syndrome, EXOC8 related |
924 | EXOC8 |
925 | Joubert syndrome, EXOSC8 related |
926 | EXOSC8 |
927 | Kabuki syndrome type 2 |
928 | KDM6A |
929 | Kenny-Caffey syndrome type 2 |
930 | FAM111A |
931 | King-Denborough syndrome |
932 | RYR1 |
933 | Kohlschutter Tonz syndrome |
934 | ROGDI |
935 | Krabbe disease |
936 | GALC |
937 | Leigh syndrome |
938 | BCS1L |
939 | Leigh syndrome |
940 | COX15 |
941 | Leigh syndrome |
942 | FOXRED1 |
943 | Leigh syndrome |
944 | NDUFA10 |
945 | Leigh syndrome |
946 | NDUFA2 |
947 | Leigh syndrome |
948 | NDUFA9 |
949 | Leigh syndrome |
950 | NDUFAF1 |
951 | Leigh syndrome |
952 | NDUFAF2 |
953 | Leigh syndrome |
954 | NDUFAF3 |
955 | Leigh syndrome |
956 | NDUFAF6 |
957 | Leigh syndrome |
958 | NDUFS3 |
959 | Leigh syndrome |
960 | NDUFS4 |
961 | Leigh syndrome |
962 | NDUFS7 |
963 | Leigh syndrome |
964 | NDUFS8 |
965 | Leigh syndrome |
966 | NUBPL |
967 | Leigh syndrome |
968 | SDHA |
969 | Leigh syndrome and mitochondrial encephalopathy |
970 | ACAD9 |
971 | Leigh syndrome due to COX deficiency |
972 | SURF1 |
973 | Leigh syndrome due to mitochondrial complex I deficiency |
974 | MT-ND3 |
975 | Leigh syndrome due to mitochondrial complex I deficiency |
976 | MT-ND5 |
977 | Leigh syndrome due to mitochondrial complex I deficiency |
978 | MT-ND6 |
979 | Leigh syndrome due to mitochondrial complex I deficiency |
980 | NDUFA12 |
981 | Leigh syndrome due to pyruvate and alpha-ketoglutarate dehydrogenase deficiencies, LIPT1 related |
982 | LIPT1 |
983 | Leigh syndrome due to pyruvate carboxylase deficiency |
984 | PC |
985 | Leigh syndrome due to the mitochondrial complex IV deficiency |
986 | TACO1 |
987 | Leigh syndrome, French-Canadian type |
988 | LRPPRC |
989 | Leigh syndrome, X-linked |
990 | PDHA1 |
991 | Lesch-Nyham syndrome |
992 | HPRT1 |
993 | Leukodystrophy demyelinating adult-onset, autosomal dominant |
994 | LMNB1 |
995 | Leukodystrophy hypomyelinating |
996 | GJC2 |
997 | Leukodystrophy hypomyelinating type 3 |
998 | AIMP1 |
999 | Leukodystrophy hypomyelinating type 4 |
1000 | HSPD1 |
1001 | Leukodystrophy hypomyelinating type 5 |
1002 | FAM126A |
1003 | Leukodystrophy hypomyelinating type 6 |
1004 | TUBB4A |
1005 | Leukodystrophy hypomyelinating type 7 |
1006 | POLR3A |
1007 | Leukodystrophy hypomyelinating type 8 |
1008 | POLR3B |
1009 | Leukodystrophy hypomyelinating type 9 |
1010 | RARS |
1011 | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation |
1012 | DARS2 |
1013 | Leukoencephalopathy with dystonia and motor neuropathy |
1014 | SCP2 |
1015 | Leukoencephalopathy with vanishing white matter |
1016 | EIF2B1 |
1017 | Leukoencephalopathy with vanishing white matter |
1018 | EIF2B2 |
1019 | Leukoencephalopathy with vanishing white matter |
1020 | EIF2B3 |
1021 | Leukoencephalopathy with vanishing white matter |
1022 | EIF2B4 |
1023 | Leukoencephalopathy with vanishing white matter |
1024 | EIF2B5 |
1025 | Leukoencephalopathy, cystic without megalencephaly |
1026 | RNASET2 |
1027 | Leukoencephalopathy, diffuse hereditary, with spheroids |
1028 | CSF1R |
1029 | Leukoencephalopathy, progressive, with ovarian failure |
1030 | AARS2 |
1031 | Lewy body dementia, susceptibility to |
1032 | GBA |
1033 | Limb-girdle muscular dystrophy, autosomal dominant type 1A |
1034 | MYOT |
1035 | Limb-girdle muscular dystrophy, autosomal dominant type 1B |
1036 | LMNA |
1037 | Limb-girdle muscular dystrophy, autosomal dominant type 1C |
1038 | CAV3 |
1039 | Limb-girdle muscular dystrophy, autosomal dominant type 1E |
1040 | DNAJB6 |
1041 | Limb-girdle muscular dystrophy, autosomal recessice type 2F |
1042 | SGCD |
1043 | Limb-girdle muscular dystrophy, autosomal recessive type 12C |
1044 | POMK |
1045 | Limb-girdle muscular dystrophy, autosomal recessive type 2A |
1046 | CAPN3 |
1047 | Limb-girdle muscular dystrophy, autosomal recessive type 2B |
1048 | DYSF |
1049 | Limb-girdle muscular dystrophy, autosomal recessive type 2C |
1050 | SGCG |
1051 | Limb-girdle muscular dystrophy, autosomal recessive type 2D |
1052 | SGCA |
1053 | Limb-girdle muscular dystrophy, autosomal recessive type 2E |
1054 | SGCB |
1055 | Limb-Girdle Muscular Dystrophy, autosomal recessive type 2G |
1056 | TCAP |
1057 | Limb-girdle muscular dystrophy, autosomal recessive type 2H |
1058 | TRIM32 |
1059 | Limb-girdle muscular dystrophy, autosomal recessive type 2I |
1060 | FKRP |
1061 | Limb-girdle muscular dystrophy, autosomal recessive type 2J |
1062 | TTN |
1063 | Limb-girdle muscular dystrophy, autosomal recessive type 2K |
1064 | POMT1 |
1065 | Limb-girdle muscular dystrophy, autosomal recessive type 2L |
1066 | ANO5 |
1067 | Limb-girdle muscular dystrophy, autosomal recessive type 2M |
1068 | FKTN |
1069 | Limb-girdle muscular dystrophy, autosomal recessive type 2N |
1070 | POMT1 |
1071 | Limb-girdle muscular dystrophy, autosomal recessive type 2S |
1072 | TRAPPC11 |
1073 | Lissencephaly type 4 with microcephaly |
1074 | NDE1 |
1075 | Lissencephaly/Subcortical laminal heteropia, X-linked |
1076 | DCX |
1077 | Lowe oculocerebrorenal syndrome |
1078 | OCRL |
1079 | Major affective disorder 7 |
1080 | XBP1 |
1081 | Malignant hyperthermia type 5 |
1082 | CACNA1S |
1083 | Mandibulofacial dysostosis with microcephaly |
1084 | EFTUD2 |
1085 | Marden-Walker syndrome |
1086 | PIEZO2 |
1087 | MASA syndrome |
1088 | L1CAM |
1089 | McLeod syndrome with or without chronic granulomatous disease |
1090 | XK |
1091 | Megalencephalic leukoencephalopathy with subcortical cysts |
1092 | MLC1 |
1093 | Megalencephalic leukoencephalopathy with subcortical cysts 2A |
1094 | HEPACAM |
1095 | MELAS syndrome, MT-TL1 related |
1096 | MT-TL1 |
1097 | Melnick-Needles syndrome |
1098 | FLNA |
1099 | Mental retardation and microcephaly with pontine and cerebellar hypoplasia |
1100 | CASK |
1101 | Mental retardation non-syndromic |
1102 | ELK1 |
1103 | Mental retardation non-syndromic |
1104 | KLF8 |
1105 | Mental retardation non-syndromic |
1106 | NXF5 |
1107 | Mental retardation non-syndromic |
1108 | ZCCHC12 |
1109 | Mental retardation with Cerebellar ataxia and dysequilibrium syndrome type 2 |
1110 | WDR81 |
1111 | Mental retardation with hypotonic facies syndrome, X-linked |
1112 | ATRX |
1113 | Mental retardation with language impairment and autistic features |
1114 | FOXP1 |
1115 | Mental retardation X-linked, SMARCA1 related |
1116 | SMARCA1 |
1117 | Mental retardation X-linked, syndromic, Claes-Jensen type |
1118 | KDM5C |
1119 | Mental retardation X-linked, syndromic, Lubs type |
1120 | MECP2 |
1121 | Mental retardation, anterior maxillary protrusion, and strabismus |
1122 | SOBP |
1123 | Mental retardation, autosomal dominant type 1 |
1124 | MBD5 |
1125 | Mental retardation, autosomal dominant type 11 |
1126 | EPB41L1 |
1127 | Mental retardation, autosomal dominant type 12 |
1128 | ARID1B |
1129 | Mental retardation, autosomal dominant type 13 |
1130 | DYNC1H1 |
1131 | Mental retardation, autosomal dominant type 13 |
1132 | TRAPPC9 |
1133 | Mental retardation, autosomal dominant type 14 |
1134 | ARID1A |
1135 | Mental retardation, autosomal dominant type 15 |
1136 | SMARCB1 |
1137 | Mental retardation, autosomal dominant type 16 |
1138 | SMARCA4 |
1139 | Mental retardation, autosomal dominant type 17 |
1140 | PACS1 |
1141 | Mental retardation, autosomal dominant type 18 |
1142 | GATAD2B |
1143 | Mental retardation, autosomal dominant type 19 |
1144 | CTNNB1 |
1145 | Mental retardation, autosomal dominant type 2 |
1146 | DOCK8 |
1147 | Mental retardation, autosomal dominant type 20 |
1148 | MEF2C |
1149 | Mental retardation, autosomal dominant type 23 |
1150 | SETD5 |
1151 | Mental retardation, autosomal dominant type 24 |
1152 | DEAF1 |
1153 | Mental retardation, autosomal dominant type 25 |
1154 | AHDC1 |
1155 | Mental retardation, autosomal dominant type 27 |
1156 | SOX11 |
1157 | Mental retardation, autosomal dominant type 28 |
1158 | ADNP |
1159 | Mental retardation, autosomal dominant type 3 |
1160 | CDH15 |
1161 | Mental retardation, autosomal dominant type 31 |
1162 | PURA |
1163 | Mental retardation, autosomal dominant type 32 |
1164 | KAT6A |
1165 | Mental retardation, autosomal dominant type 37 |
1166 | POGZ |
1167 | Mental retardation, autosomal dominant type 38 |
1168 | EEF1A2 |
1169 | Mental retardation, autosomal dominant type 5 |
1170 | SYNGAP1 |
1171 | Mental retardation, autosomal dominant type 6 |
1172 | GRIN2B |
1173 | Mental retardation, autosomal dominant type 7 |
1174 | DYRK1A |
1175 | Mental retardation, autosomal dominant type 8 |
1176 | GRIN1 |
1177 | Mental retardation, autosomal dominant type 9 |
1178 | KIF1A |
1179 | Mental retardation, autosomal recessive type 1 |
1180 | PRSS12 |
1181 | Mental retardation, autosomal recessive type 12 |
1182 | ST3GAL3 |
1183 | Mental retardation, autosomal recessive type 14 |
1184 | TECR |
1185 | Mental retardation, autosomal recessive type 15 |
1186 | MAN1B1 |
1187 | Mental retardation, autosomal recessive type 18 |
1188 | MED23 |
1189 | Mental retardation, autosomal recessive type 2 |
1190 | CRBN |
1191 | Mental retardation, autosomal recessive type 27 |
1192 | LINS1 |
1193 | Mental retardation, autosomal recessive type 3 |
1194 | CC2D1A |
1195 | Mental retardation, autosomal recessive type 36 |
1196 | ADAT3 |
1197 | Mental retardation, autosomal recessive type 37 |
1198 | ANK3 |
1199 | Mental retardation, autosomal recessive type 38 |
1200 | HERC2 |
1201 | Mental retardation, autosomal recessive type 39 |
1202 | TTI2 |
1203 | Mental retardation, autosomal recessive type 40 |
1204 | TAF2 |
1205 | Mental retardation, autosomal recessive type 41 |
1206 | KPTN |
1207 | Mental retardation, autosomal recessive type 42 |
1208 | PGAP1 |
1209 | Mental retardation, autosomal recessive type 46 |
1210 | NDST1 |
1211 | Mental retardation, autosomal recessive type 49 |
1212 | GPT2 |
1213 | Mental retardation, autosomal recessive type 5 |
1214 | NSUN2 |
1215 | Mental retardation, autosomal recessive type 55 |
1216 | PUS3 |
1217 | Mental retardation, autosomal recessive type 7 |
1218 | TUSC3 |
1219 | Mental retardation, X-linked |
1220 | RAB40AL |
1221 | Mental retardation, X-linked syndromic, Christianson type |
1222 | SLC9A6 |
1223 | Mental retardation, X-linked syndromic, Nascimento-type |
1224 | UBE2A |
1225 | Mental retardation, X-linked syndromic, Raymond type |
1226 | ZDHHC9 |
1227 | Mental retardation, X-linked syndromic, Turner type |
1228 | HUWE1 |
1229 | Mental retardation, X-linked type 1 |
1230 | IQSEC2 |
1231 | Mental retardation, X-linked type 101 |
1232 | MID2 |
1233 | Mental retardation, X-linked type 102 |
1234 | DDX3X |
1235 | Mental retardation, X-Linked type 13 |
1236 | MECP2 |
1237 | Mental retardation, X-linked type 14 |
1238 | UPF3B |
1239 | Mental retardation, X-linked type 15 |
1240 | CUL4B |
1241 | Mental retardation, X-linked type 16 |
1242 | FGD1 |
1243 | Mental retardation, X-linked type 17 |
1244 | HSD17B10 |
1245 | Mental retardation, X-linked type 19 |
1246 | RPS6KA3 |
1247 | Mental retardation, X-linked type 21 |
1248 | IL1RAPL1 |
1249 | Mental retardation, X-linked type 29 |
1250 | ARX |
1251 | Mental retardation, X-linked type 3 |
1252 | HCFC1 |
1253 | Mental retardation, X-linked type 30 |
1254 | PAK3 |
1255 | Mental retardation, X-linked type 32 |
1256 | CLIC2 |
1257 | Mental retardation, X-linked type 41 |
1258 | GDI1 |
1259 | Mental retardation, X-linked type 44 |
1260 | FTSJ1 |
1261 | Mental retardation, X-linked type 45 |
1262 | ZNF81 |
1263 | Mental retardation, X-linked type 46 |
1264 | ARHGEF6 |
1265 | Mental retardation, X-linked type 58 |
1266 | TSPAN7 |
1267 | Mental retardation, X-linked type 59 |
1268 | AP1S2 |
1269 | Mental retardation, X-linked type 63 |
1270 | ACSL4 |
1271 | Mental retardation, X-linked type 72 |
1272 | RAB39B |
1273 | Mental retardation, X-linked type 88, AGTR2 related |
1274 | AGTR2 |
1275 | Mental retardation, X-linked type 89 |
1276 | ZNF41 |
1277 | Mental retardation, X-linked type 90 |
1278 | DLG3 |
1279 | Mental retardation, X-linked type 91 |
1280 | ZDHHC15 |
1281 | Mental retardation, X-linked type 92 |
1282 | ZNF674 |
1283 | Mental retardation, X-linked type 93 |
1284 | BRWD3 |
1285 | Mental retardation, X-linked type 94 |
1286 | GRIA3 |
1287 | Mental retardation, X-linked type 95 |
1288 | MAGT1 |
1289 | Mental retardation, X-linked type 96 |
1290 | SYP |
1291 | Mental retardation, X-linked type 97 |
1292 | ZNF711 |
1293 | Mental retardation, X-linked type 99 |
1294 | USP9X |
1295 | Mental retardation, X-linked with epilepsy |
1296 | ATP6AP2 |
1297 | Mental retardation, X-linked, associated with fragile site FRAXE |
1298 | AFF2 |
1299 | Mental retardation, x-linked, EFHC2 related |
1300 | EFHC2 |
No. | Description |
1301 | Mental retardation, X-linked, nonsyndromic |
1302 | NEXMIF |
1303 | Mental retardation, X-linked, Siderius type |
1304 | PHF8 |
1305 | Mental retardation, X-linked, Snyder-Robinson type |
1306 | SMS |
1307 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance |
1308 | OPHN1 |
1309 | Mental retardation, X-linked, with isolated growth hormone deficiency |
1310 | SOX3 |
1311 | MERRF syndrome, MT-TK related |
1312 | MT-TK |
1313 | MERRF syndrome, MT-TP related |
1314 | MT-TP |
1315 | MERRF/MELAS overlap syndrome, MT-TS1 related |
1316 | MT-TS1 |
1317 | MERRF/MELAS overlap syndrome, MT-TS2 related |
1318 | MT-TS2 |
1319 | Metachromatic leukodystrophy due to Saposin B deficiency |
1320 | PSAP |
1321 | Methionine adenosyltransferase deficiency, autosomal recessive |
1322 | MAT1A |
1323 | Microcephaly-capillary malformation syndrome |
1324 | STAMBP |
1325 | Minicore myopathy with external ophthalmoplegia |
1326 | RYR1 |
1327 | Mirror movements type 1 |
1328 | DCC |
1329 | Mirror movements type 2 |
1330 | RAD51 |
1331 | Mirror movements type 3 |
1332 | DNAL4 |
1333 | Mitochondrial complex I deficiency |
1334 | FOXRED1 |
1335 | Mitochondrial complex I deficiency |
1336 | MT-ND1 |
1337 | Mitochondrial complex I deficiency |
1338 | MT-ND2 |
1339 | Mitochondrial complex I deficiency |
1340 | MT-ND3 |
1341 | Mitochondrial complex I deficiency |
1342 | MT-ND4 |
1343 | Mitochondrial complex I deficiency |
1344 | MT-ND4L |
1345 | Mitochondrial complex I deficiency |
1346 | MT-ND5 |
1347 | Mitochondrial complex I deficiency |
1348 | MT-ND6 |
1349 | Mitochondrial complex I deficiency |
1350 | NDUFA1 |
1351 | Mitochondrial complex I deficiency |
1352 | NDUFA11 |
1353 | Mitochondrial complex I deficiency |
1354 | NDUFAF1 |
1355 | Mitochondrial complex I deficiency |
1356 | NDUFAF3 |
1357 | Mitochondrial complex I deficiency |
1358 | NDUFAF4 |
1359 | Mitochondrial complex I deficiency |
1360 | NDUFAF5 |
1361 | Mitochondrial complex I deficiency |
1362 | NDUFB3 |
1363 | Mitochondrial complex I deficiency |
1364 | NDUFS1 |
1365 | Mitochondrial complex I deficiency |
1366 | NDUFS2 |
1367 | Mitochondrial complex I deficiency |
1368 | NDUFS4 |
1369 | Mitochondrial complex I deficiency |
1370 | NDUFS6 |
1371 | Mitochondrial complex I deficiency |
1372 | NDUFV1 |
1373 | Mitochondrial complex I deficiency |
1374 | NDUFV2 |
1375 | Mitochondrial complex I deficiency, MT-TN related |
1376 | MT-TN |
1377 | Mitochondrial complex II deficiency |
1378 | SDHAF1 |
1379 | Mitochondrial complex II deficiency |
1380 | SDHD |
1381 | Mitochondrial complex III deficiency |
1382 | BCS1L |
1383 | Mitochondrial complex III deficiency |
1384 | UQCRB |
1385 | Mitochondrial complex III deficiency |
1386 | UQCRC2 |
1387 | Mitochondrial complex III deficiency |
1388 | UQCRQ |
1389 | Mitochondrial complex III deficiency, nuclear type 2 |
1390 | TTC19 |
1391 | Mitochondrial complex III deficiency, nuclear type 7 |
1392 | UQCC2 |
1393 | Mitochondrial complex IV deficiency |
1394 | COA8 |
1395 | Mitochondrial complex IV deficiency |
1396 | COX6B1 |
1397 | Mitochondrial complex IV deficiency |
1398 | FASTKD2 |
1399 | Mitochondrial complex IV deficiency |
1400 | MT-CO3 |
1401 | Mitochondrial complex IV deficiency |
1402 | PET100 |
1403 | Mitochondrial complex V (ATP synthase) deficiency |
1404 | MT-ATP6 |
1405 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 |
1406 | ATPAF2 |
1407 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 |
1408 | TMEM70 |
1409 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 |
1410 | ATP5F1E |
1411 | Mitochondrial complex V deficiency, nuclear type 4 |
1412 | ATP5F1A |
1413 | Mitochondrial Disorders, AKAP1 related |
1414 | AKAP1 |
1415 | Mitochondrial DNA depletion syndrome |
1416 | DGUOK |
1417 | Mitochondrial DNA depletion syndrome |
1418 | SUCLA2 |
1419 | Mitochondrial DNA depletion syndrome |
1420 | TK2 |
1421 | Mitochondrial DNA depletion syndrome 8B, MNGIE type |
1422 | RRM2B |
1423 | Mitochondrial DNA depletion syndrome type 11 |
1424 | MGME1 |
1425 | Mitochondrial DNA depletion syndrome type 13 |
1426 | FBXL4 |
1427 | Mitochondrial DNA depletion syndrome type 4A |
1428 | POLG |
1429 | Mitochondrial DNA depletion syndrome type 4B |
1430 | POLG |
1431 | Mitochondrial DNA depletion syndrome type 6 |
1432 | MPV17 |
1433 | Mitochondrial DNA depletion syndrome type 7 |
1434 | TWNK |
1435 | Mitochondrial DNA depletion syndrome, encephalomyopathic type with methylmalonic aciduria |
1436 | SUCLG1 |
1437 | Mitochondrial encephalomyopathy |
1438 | MFF |
1439 | Mitochondrial encephalomyopathy |
1440 | MT-CYB |
1441 | Mitochondrial myopathy and sideroblastic anemia type 1 |
1442 | PUS1 |
1443 | Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy |
1444 | POLG |
1445 | Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy |
1446 | TYMP |
1447 | Mitochondrial respiratory chain complex II deficiency |
1448 | SDHA |
1449 | Mitochondrial respiratory chain disease, TIMM21 related |
1450 | TIMM21 |
1451 | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency |
1452 | ECHS1 |
1453 | Miyoshi muscular dystrophy type 3 |
1454 | ANO5 |
1455 | Miyoshi myopathy |
1456 | DYSF |
1457 | Multiple congenital anomalies-hypotonia-seizures syndrome type 3 |
1458 | PIGT |
1459 | Multiple mitochondrial dysfunctions syndrome type 1 |
1460 | NFU1 |
1461 | Multiple mitochondrial dysfunctions syndrome type 2 |
1462 | BOLA3 |
1463 | Multiple mitochondrial dysfunctions syndrome type 3 |
1464 | IBA57 |
1465 | Multiple mitochondrial dysfunctions syndrome type 4 |
1466 | ISCA2 |
1467 | Multisystemic smooth muscle dysfunction syndrome |
1468 | ACTA2 |
1469 | Muscle hypertrophy |
1470 | MSTN |
1471 | Muscle-eye-brain disease, POMK related |
1472 | POMK |
1473 | Muscular dystrophy type 1A |
1474 | LAMA2 |
1475 | Muscular dystrophy type 1C |
1476 | FKRP |
1477 | Muscular dystrophy type 1D |
1478 | LARGE1 |
1479 | Muscular dystrophy, Becker type |
1480 | DMD |
1481 | Muscular dystrophy, congenital, LMNA related |
1482 | LMNA |
1483 | Muscular dystrophy, congenital, megaconial type |
1484 | CHKB |
1485 | Muscular dystrophy, Duchenne type |
1486 | DMD |
1487 | Muscular dystrophy, limb-girdle type 2A |
1488 | CAPN3 |
1489 | Muscular dystrophy, limb-girdle, type 2Q |
1490 | PLEC |
1491 | Muscular dystrophy, oculopharyngeal |
1492 | PABPN1 |
1493 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A10 |
1494 | RXYLT1 |
1495 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 |
1496 | B4GAT1 |
1497 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 |
1498 | POMT2 |
1499 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 |
1500 | POMGNT1 |
1501 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8 |
1502 | POMGNT2 |
1503 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1 |
1504 | POMT1 |
1505 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B2 |
1506 | POMT2 |
1507 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3 |
1508 | POMGNT1 |
1509 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C2 |
1510 | POMT2 |
1511 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C3 |
1512 | POMGNT1 |
1513 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C9 |
1514 | DAG1 |
1515 | Muscular-skeletal disorder, CAPN1 related |
1516 | CAPN1 |
1517 | Myasthenia congenital with tubular aggregates 1 |
1518 | GFPT1 |
1519 | Myasthenic syndrome associated with acetylcholine receptor deficiency |
1520 | MUSK |
1521 | Myasthenic syndrome due to mutation in SCN4A |
1522 | SCN4A |
1523 | Myasthenic syndrome, congenital |
1524 | AGRN |
1525 | Myasthenic syndrome, congenital |
1526 | CHAT |
1527 | Myasthenic syndrome, congenital |
1528 | CHRNB1 |
1529 | Myasthenic syndrome, congenital |
1530 | CHRNE |
1531 | Myasthenic syndrome, congenital, fast channel |
1532 | CHRNA1 |
1533 | Myasthenic syndrome, congenital, slow-channel |
1534 | CHRNA1 |
1535 | Myasthenic syndrome, congenital, type 10 |
1536 | DOK7 |
1537 | Myasthenic syndrome, congenital, type 11, associated with acetylcholine receptor deficiency |
1538 | RAPSN |
1539 | Myasthenic syndrome, congenital, type 20, presynaptic |
1540 | SLC5A7 |
1541 | Myasthenic syndrome, congenital, type 3A, slow channel |
1542 | CHRND |
1543 | Myasthenic syndrome, congenital, type 3B, fast-channel |
1544 | CHRND |
1545 | Myasthenic syndrome, congenital, type 3C, associated with acetylcholine receptor deficiency |
1546 | CHRND |
1547 | Myoclonic dystonia, DRD2 related |
1548 | DRD2 |
1549 | Myoclonic epilepsy of Lafora |
1550 | EPM2A |
1551 | Myoclonic epilepsy of Lafora |
1552 | NHLRC1 |
1553 | Myoclonus, familial cortical |
1554 | NOL3 |
1555 | Myoglobinuria acute recurrent |
1556 | LPIN1 |
1557 | Myopathy due to Integrin 7A deficiency |
1558 | ITGA7 |
1559 | Myopathy due to myoadenylate deaminase deficiency |
1560 | AMPD1 |
1561 | Myopathy with extrapyramidal signs |
1562 | MICU1 |
1563 | Myopathy with fiber-type disproportion |
1564 | ACTA1 |
1565 | Myopathy with fiber-type disproportion |
1566 | SELENON |
1567 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset |
1568 | MEGF10 |
1569 | Myopathy, COL6A6 related |
1570 | COL6A6 |
1571 | Myopathy, desmin related, associated with mutation in the CRYAB gene |
1572 | CRYAB |
1573 | Myopathy, distal type 1 |
1574 | MYH7 |
1575 | Myopathy, distal type 4 |
1576 | FLNC |
1577 | Myopathy, distal with anterior tibial onset |
1578 | DYSF |
1579 | Myopathy, distal, Tateyama type |
1580 | CAV3 |
1581 | Myopathy, early-onset with fatal cardiomyopathy |
1582 | TTN |
1583 | Myopathy, lactic acidosis, and sideroblastic anemia type 2 |
1584 | YARS2 |
1585 | Myopathy, limb girdle with bone fragility |
1586 | MTAP |
1587 | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay |
1588 | GFER |
1589 | Myopathy, MT-TQ related |
1590 | MT-TQ |
1591 | Myopathy, myofibrillar type 6 |
1592 | BAG3 |
1593 | Myopathy, myofibrillar, Desmin related |
1594 | DES |
1595 | Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related |
1596 | CRYAB |
1597 | Myopathy, myofibrillar, ZASP related |
1598 | LDB3 |
1599 | Myopathy, scapulohumeroperoneal |
1600 | ACTA1 |
1601 | Myopathy, tubular aggregate, type 1 |
1602 | STIM1 |
1603 | Myosclerosis, autosomal recessive |
1604 | COL6A2 |
1605 | Myosin storage myopathy |
1606 | MYH7 |
1607 | Myotilinopathy |
1608 | MYOT |
1609 | Myotonia congenita |
1610 | CLCN1 |
1611 | Myotonic dystrophy type 1 |
1612 | DMPK |
1613 | Myotonic dystrophy type 2 |
1614 | CNBP |
1615 | Myotubular myopathy X-linked |
1616 | MTM1 |
1617 | Narcolepsy |
1618 | HCRT |
1619 | Nemaline myopathy type 1 |
1620 | TPM3 |
1621 | Nemaline myopathy type 2, autosomal recessive |
1622 | NEB |
1623 | Nemaline myopathy type 3 |
1624 | ACTA1 |
1625 | Nemaline myopathy type 4 |
1626 | TPM2 |
1627 | Nemaline myopathy type 5 |
1628 | TNNT1 |
1629 | Nemaline myopathy type 6 |
1630 | KBTBD13 |
1631 | Nemaline myopathy type 7 |
1632 | CFL2 |
1633 | Neonatal death due Leigh syndrome, MT-TV related |
1634 | MT-TV |
1635 | Neurodegeneration due to cerebral folate transport deficiency |
1636 | FOLR1 |
1637 | Neurodegeneration with brain iron accululation type 5 |
1638 | WDR45 |
1639 | Neurodegeneration with brain iron accumulation type 4 |
1640 | C19orf12 |
1641 | Neurodegeneration with brain iron accumulation type 6 |
1642 | COASY |
1643 | Neurodegeneration with brain iron accumulation, GTPBP2 related |
1644 | GTPBP2 |
1645 | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures |
1646 | BRAT1 |
1647 | Neurodevelopmental disorder, ADAM22 related |
1648 | ADAM22 |
1649 | Neurodevelopmental disorder, APC2-related |
1650 | APC2 |
1651 | Neurodevelopmental disorder, CNTNAP4 related |
1652 | CNTNAP4 |
1653 | Neurodevelopmental disorder, CROCC related |
1654 | CROCC |
1655 | Neurodevelopmental disorder, FRMPD4 related |
1656 | FRMPD4 |
1657 | Neurodevelopmental disorder, KCTD3 related |
1658 | KCTD3 |
1659 | Neurodevelopmental disorder, MACF1 related |
1660 | MACF1 |
1661 | Neurodevelopmental disorder, MTOR related |
1662 | MTOR |
1663 | Neurodevelopmental disorder, NGEF related |
1664 | NGEF |
1665 | Neurodevelopmental disorder, PIGQ related |
1666 | PIGQ |
1667 | Neurodevelopmental disorder, TUBB related |
1668 | TUBB |
1669 | Neurodevelopmental disorder, ZNF311 related |
1670 | ZNF311 |
1671 | Neurodevelopmental malformation and microcephaly |
1672 | KIF2A |
1673 | Neurodevelopmental malformation and microcephaly |
1674 | KIF5C |
1675 | Neurodevelopmental malformation and microcephaly |
1676 | TUBG1 |
1677 | Neurogenic scapuloperoneal syndrome, Kaeser type |
1678 | DES |
1679 | Neuromyotonia and axonal neuropathy, autosomal recessive |
1680 | HINT1 |
1681 | Neuronal migration disorder |
1682 | CTNNA2 |
1683 | Neuronal migration disorder |
1684 | EOMES |
1685 | Neuronal migration disorder |
1686 | SPTBN5 |
1687 | Neuronal migration disorder |
1688 | SRGAP2 |
1689 | Neuronopathy distal hereditary motor type 2A |
1690 | HSPB8 |
1691 | Neuronopathy distal hereditary motor type 2B |
1692 | HSPB1 |
1693 | Neuronopathy distal hereditary motor type 5 |
1694 | GARS1 |
1695 | Neuronopathy distal hereditary motor type 6 |
1696 | IGHMBP2 |
1697 | Neuronopathy distal hereditary motor type 7B |
1698 | DCTN1 |
1699 | Neuropathy sensor type 1E |
1700 | DNMT1 |
1701 | Neuropathy with liability to pressure palsies [HNPP] |
1702 | PMP22 |
1703 | Neuropathy with sensory ataxic, dysarthria, and ophthalmoparesis |
1704 | POLG |
1705 | Neuropathy, distal hereditary motor, type 5A |
1706 | BSCL2 |
1707 | Neuropathy, hereditary sensory and autonomic type 1C |
1708 | SPTLC2 |
1709 | Neuropathy, hereditary sensory and autonomic type 2 |
1710 | SCN9A |
1711 | Neuropathy, hereditary sensory and autonomic type 6 |
1712 | DST |
1713 | Neuropathy, hereditary sensory, type 1D |
1714 | ATL1 |
1715 | Neuropathy, hereditary sensory, type 1F |
1716 | ATL3 |
1717 | Neuropathy, hereditary sensory, with spastic paraplegia |
1718 | CCT5 |
1719 | Neutral lipid storage disease with myopathy |
1720 | PNPLA2 |
1721 | Niemann-Pick disease type C1 |
1722 | NPC1 |
1723 | Nonaka myopathy |
1724 | GNE |
1725 | Norrie disease |
1726 | NDP |
1727 | Occipital horn syndrome |
1728 | ATP7A |
1729 | Opitz G syndrome |
1730 | MID1 |
1731 | Oral-facial-digital syndrome type 1 |
1732 | OFD1 |
1733 | Pantothenate kinase-associated neurodegeneration |
1734 | PANK2 |
1735 | Paramyotonia congenita of von Eulenburg |
1736 | SCN4A |
1737 | Parietal foramina type 2 |
1738 | ALX4 |
1739 | PARK1 Parkinson |
1740 | SNCA |
1741 | PARK13 Parkinson |
1742 | HTRA2 |
1743 | PARK14 Parkinson |
1744 | PLA2G6 |
1745 | PARK15 Parkinson |
1746 | FBXO7 |
1747 | PARK17 Parkinson |
1748 | VPS35 |
1749 | PARK19 Parkinson, juvenile-onset |
1750 | DNAJC6 |
1751 | PARK2 Parkinson |
1752 | PRKN |
1753 | PARK20 Parkinson |
1754 | SYNJ1 |
1755 | PARK21 Parkinson |
1756 | DNAJC13 |
1757 | PARK4 Parkinson |
1758 | SNCA |
1759 | PARK5 Parkinson |
1760 | UCHL1 |
1761 | PARK6 Parkinson |
1762 | PINK1 |
1763 | PARK7 Parkinson |
1764 | PARK7 |
1765 | PARK8 Parkinson |
1766 | LRRK2 |
1767 | PARK9 Parkinson |
1768 | ATP13A2 |
1769 | Parkinson disease, late-onset, susceptibility to |
1770 | GBA |
1771 | Parkinson disease, susceptibility to, MT-TT related |
1772 | MT-TT |
1773 | Parkinsonism with spasticity, X-linked |
1774 | ATP6AP2 |
1775 | Parkinsonism-Dystonia, infantile |
1776 | SLC6A3 |
1777 | Paroxysmal exercise-induced dyskinesia with epilepsy and/or hemolytic anemia |
1778 | SLC2A1 |
1779 | Paroxysmal nonkinesigenic dyskinesia |
1780 | PNKD |
1781 | Partington syndrome |
1782 | ARX |
1783 | Pelizaeus-Merzbacher disease |
1784 | PLP1 |
1785 | Pelizaeus-Merzbacher disease |
1786 | SLC16A2 |
1787 | Peripheral demyelinating neuropathy Waardenburg syndrome and Hirschsprung disease |
1788 | SOX10 |
1789 | Periventricular heterotopia with microcephaly |
1790 | ARFGEF2 |
1791 | Peroxisome biogenesis disorder 14B |
1792 | PEX11B |
1793 | Peroxisome biogenesis disorder type 10A |
1794 | PEX3 |
1795 | Peroxisome biogenesis disorder type 1B |
1796 | PEX1 |
1797 | Peroxisome biogenesis disorder type 2A |
1798 | PEX5 |
1799 | Peroxisome biogenesis disorder type 2B |
1800 | PEX5 |
1801 | Perrault syndrome |
1802 | HSD17B4 |
1803 | Perrault syndrome type 2 |
1804 | HARS2 |
1805 | Perrault syndrome type 4 |
1806 | LARS2 |
1807 | Perrault syndrome type 5 |
1808 | TWNK |
1809 | Phosphoglycerate kinase 1 deficiency |
1810 | PGK1 |
1811 | Pick disease |
1812 | PSEN1 |
1813 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy |
1814 | TREM2 |
1815 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy |
1816 | TYROBP |
1817 | Polyglucosan body myopathy type 1 with or without immunodeficiency |
1818 | RBCK1 |
1819 | Polymicrogyria bilateral occipital |
1820 | NR2E1 |
1821 | Pompe disease |
1822 | GAA |
1823 | Pontocerebellar hypoplasia type 1A |
1824 | VRK1 |
1825 | Pontocerebellar hypoplasia type 1B |
1826 | EXOSC3 |
1827 | Pontocerebellar hypoplasia type 2A |
1828 | TSEN54 |
1829 | Pontocerebellar hypoplasia type 2B |
1830 | TSEN2 |
1831 | Pontocerebellar hypoplasia type 2C |
1832 | TSEN34 |
1833 | Pontocerebellar hypoplasia type 2D |
1834 | SEPSECS |
1835 | Pontocerebellar hypoplasia type 2E |
1836 | VPS53 |
1837 | Pontocerebellar hypoplasia type 4 |
1838 | TSEN54 |
1839 | Pontocerebellar hypoplasia type 5 |
1840 | TSEN54 |
1841 | Pontocerebellar hypoplasia type 6 |
1842 | RARS2 |
1843 | Pontocerebellar hypoplasia type 8 |
1844 | CHMP1A |
1845 | Pontocerebellar hypoplasia, type 10 |
1846 | CLP1 |
1847 | Pontocerebellar hypoplasia, type 9 |
1848 | AMPD2 |
1849 | Porencephaly type 2 |
1850 | COL4A2 |
1851 | Potassium-aggravated myotonia |
1852 | SCN4A |
1853 | Prader-Willi syndrome |
1854 | chr. 15q11 |
1855 | Prader-Willi syndrome |
1856 | NDN |
1857 | Prader-Willi syndrome |
1858 | SNRPN |
1859 | Primary lateral sclerosis, juvenile |
1860 | ALS2 |
1861 | Progressive external ophthalmoplegia with mitochondrial deletions type 1, autosomal dominant |
1862 | POLG |
1863 | Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal dominant |
1864 | SLC25A4 |
1865 | Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal recessive |
1866 | RNASEH1 |
1867 | Progressive external ophthalmoplegia with mitochondrial deletions type 3, autosomal dominant |
1868 | TWNK |
1869 | Progressive external ophthalmoplegia with mitochondrial deletions type 4, autosomal dominant |
1870 | POLG2 |
1871 | Progressive external ophthalmoplegia with mitochondrial deletions type 5, autosomal dominant |
1872 | RRM2B |
1873 | Progressive myoclonus epilepsy type 1A |
1874 | PRICKLE1 |
1875 | Progressive myoclonus epilepsy type 3 |
1876 | KCTD7 |
1877 | Progressive myoclonus epilepsy type 6 |
1878 | GOSR2 |
1879 | Progressive myoclonus epilepsy type 8 |
1880 | CERS1 |
1881 | Psychomotor retardation |
1882 | TANC1 |
1883 | Ptosis, congenital |
1884 | ZFHX4 |
1885 | Pyridoxine-dependent epilepsy |
1886 | ALDH7A1 |
1887 | Pyruvate carboxylase deficiency |
1888 | PC |
1889 | Raynaud-Claes syndrome |
1890 | CLCN4 |
1891 | Renpenning syndrome |
1892 | PQBP1 |
1893 | Rett syndrome preserved speech variant |
1894 | MECP2 |
1895 | Rigid spine muscular dystrophy |
1896 | SELENON |
1897 | Rippling muscle disease |
1898 | CAV3 |
1899 | Rolandic epilepsy, mental retardation, and speech dyspraxia |
1900 | SRPX2 |
1901 | Roussy-Levy syndrome |
1902 | PMP22 |
1903 | Salih ataxia |
1904 | RUBCN |
1905 | Scapuloperoneal myopathy, MYH7 related |
1906 | MYH7 |
1907 | Schizophrenia, CALR related |
1908 | CALR |
1909 | Schizophrenia, CELSR2 related |
1910 | CELSR2 |
1911 | Schizophrenia, GRID2 related |
1912 | GRID2 |
1913 | Schizophrenia, NOTCH4 related |
1914 | NOTCH4 |
1915 | Schwartz-Jampel syndrome type 1 |
1916 | HSPG2 |
1917 | Segawa syndrome, autosomal recessive |
1918 | TH |
1919 | Seizures, benign familial infantile, type 2 |
1920 | PRRT2 |
1921 | Seizures, benign neonatal, type 1 |
1922 | KCNQ2 |
1923 | Seizures, benign neonatal, type 2 |
1924 | KCNQ3 |
1925 | SESAME syndrome |
1926 | KCNJ10 |
1927 | Sialuria, finish type |
1928 | SLC17A5 |
1929 | Simpson-Golabi-Behmel syndrome type 1 |
1930 | GPC3 |
1931 | Sjogren-Larsson syndrome |
1932 | ALDH3A2 |
1933 | Slowed nerve conduction velocity, autosomanal dominant |
1934 | ARHGEF10 |
1935 | Smith-Magenis syndrome |
1936 | RAI1 |
1937 | Smith-Magenis syndrome, ULK2 related |
1938 | ULK2 |
1939 | Spastic ataxia Charlevoix-Saguenay type |
1940 | SACS |
1941 | Spastic ataxia type 1, autosomal dominant |
1942 | VAMP1 |
1943 | Spastic ataxia type 2, autosomal recessive |
1944 | KIF1C |
1945 | Spastic ataxia type 3, autosomal recessive |
1946 | MARS2 |
1947 | Spastic ataxia type 4, autosomal recessive |
1948 | MTPAP |
1949 | Spastic ataxia type 5, autosomal recessive |
1950 | AFG3L2 |
1951 | Spastic paralysis, infantile onset ascending |
1952 | ALS2 |
1953 | Spastic paraplegia type 74, autosomal recessive |
1954 | IBA57 |
1955 | SPG1 |
1956 | L1CAM |
1957 | SPG10 |
1958 | KIF5A |
1959 | SPG11 |
1960 | SPG11 |
1961 | SPG12 |
1962 | RTN2 |
1963 | SPG13 |
1964 | HSPD1 |
1965 | SPG15 |
1966 | ZFYVE26 |
1967 | SPG17 |
1968 | BSCL2 |
1969 | SPG18 |
No. | Description |
1301 | Mental retardation, X-linked, nonsyndromic |
1302 | NEXMIF |
1303 | Mental retardation, X-linked, Siderius type |
1304 | PHF8 |
1305 | Mental retardation, X-linked, Snyder-Robinson type |
1306 | SMS |
1307 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance |
1308 | OPHN1 |
1309 | Mental retardation, X-linked, with isolated growth hormone deficiency |
1310 | SOX3 |
1311 | MERRF syndrome, MT-TK related |
1312 | MT-TK |
1313 | MERRF syndrome, MT-TP related |
1314 | MT-TP |
1315 | MERRF/MELAS overlap syndrome, MT-TS1 related |
1316 | MT-TS1 |
1317 | MERRF/MELAS overlap syndrome, MT-TS2 related |
1318 | MT-TS2 |
1319 | Metachromatic leukodystrophy due to Saposin B deficiency |
1320 | PSAP |
1321 | Methionine adenosyltransferase deficiency, autosomal recessive |
1322 | MAT1A |
1323 | Microcephaly-capillary malformation syndrome |
1324 | STAMBP |
1325 | Minicore myopathy with external ophthalmoplegia |
1326 | RYR1 |
1327 | Mirror movements type 1 |
1328 | DCC |
1329 | Mirror movements type 2 |
1330 | RAD51 |
1331 | Mirror movements type 3 |
1332 | DNAL4 |
1333 | Mitochondrial complex I deficiency |
1334 | FOXRED1 |
1335 | Mitochondrial complex I deficiency |
1336 | MT-ND1 |
1337 | Mitochondrial complex I deficiency |
1338 | MT-ND2 |
1339 | Mitochondrial complex I deficiency |
1340 | MT-ND3 |
1341 | Mitochondrial complex I deficiency |
1342 | MT-ND4 |
1343 | Mitochondrial complex I deficiency |
1344 | MT-ND4L |
1345 | Mitochondrial complex I deficiency |
1346 | MT-ND5 |
1347 | Mitochondrial complex I deficiency |
1348 | MT-ND6 |
1349 | Mitochondrial complex I deficiency |
1350 | NDUFA1 |
1351 | Mitochondrial complex I deficiency |
1352 | NDUFA11 |
1353 | Mitochondrial complex I deficiency |
1354 | NDUFAF1 |
1355 | Mitochondrial complex I deficiency |
1356 | NDUFAF3 |
1357 | Mitochondrial complex I deficiency |
1358 | NDUFAF4 |
1359 | Mitochondrial complex I deficiency |
1360 | NDUFAF5 |
1361 | Mitochondrial complex I deficiency |
1362 | NDUFB3 |
1363 | Mitochondrial complex I deficiency |
1364 | NDUFS1 |
1365 | Mitochondrial complex I deficiency |
1366 | NDUFS2 |
1367 | Mitochondrial complex I deficiency |
1368 | NDUFS4 |
1369 | Mitochondrial complex I deficiency |
1370 | NDUFS6 |
1371 | Mitochondrial complex I deficiency |
1372 | NDUFV1 |
1373 | Mitochondrial complex I deficiency |
1374 | NDUFV2 |
1375 | Mitochondrial complex I deficiency, MT-TN related |
1376 | MT-TN |
1377 | Mitochondrial complex II deficiency |
1378 | SDHAF1 |
1379 | Mitochondrial complex II deficiency |
1380 | SDHD |
1381 | Mitochondrial complex III deficiency |
1382 | BCS1L |
1383 | Mitochondrial complex III deficiency |
1384 | UQCRB |
1385 | Mitochondrial complex III deficiency |
1386 | UQCRC2 |
1387 | Mitochondrial complex III deficiency |
1388 | UQCRQ |
1389 | Mitochondrial complex III deficiency, nuclear type 2 |
1390 | TTC19 |
1391 | Mitochondrial complex III deficiency, nuclear type 7 |
1392 | UQCC2 |
1393 | Mitochondrial complex IV deficiency |
1394 | COA8 |
1395 | Mitochondrial complex IV deficiency |
1396 | COX6B1 |
1397 | Mitochondrial complex IV deficiency |
1398 | FASTKD2 |
1399 | Mitochondrial complex IV deficiency |
1400 | MT-CO3 |
1401 | Mitochondrial complex IV deficiency |
1402 | PET100 |
1403 | Mitochondrial complex V (ATP synthase) deficiency |
1404 | MT-ATP6 |
1405 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 |
1406 | ATPAF2 |
1407 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 |
1408 | TMEM70 |
1409 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 |
1410 | ATP5F1E |
1411 | Mitochondrial complex V deficiency, nuclear type 4 |
1412 | ATP5F1A |
1413 | Mitochondrial Disorders, AKAP1 related |
1414 | AKAP1 |
1415 | Mitochondrial DNA depletion syndrome |
1416 | DGUOK |
1417 | Mitochondrial DNA depletion syndrome |
1418 | SUCLA2 |
1419 | Mitochondrial DNA depletion syndrome |
1420 | TK2 |
1421 | Mitochondrial DNA depletion syndrome 8B, MNGIE type |
1422 | RRM2B |
1423 | Mitochondrial DNA depletion syndrome type 11 |
1424 | MGME1 |
1425 | Mitochondrial DNA depletion syndrome type 13 |
1426 | FBXL4 |
1427 | Mitochondrial DNA depletion syndrome type 4A |
1428 | POLG |
1429 | Mitochondrial DNA depletion syndrome type 4B |
1430 | POLG |
1431 | Mitochondrial DNA depletion syndrome type 6 |
1432 | MPV17 |
1433 | Mitochondrial DNA depletion syndrome type 7 |
1434 | TWNK |
1435 | Mitochondrial DNA depletion syndrome, encephalomyopathic type with methylmalonic aciduria |
1436 | SUCLG1 |
1437 | Mitochondrial encephalomyopathy |
1438 | MFF |
1439 | Mitochondrial encephalomyopathy |
1440 | MT-CYB |
1441 | Mitochondrial myopathy and sideroblastic anemia type 1 |
1442 | PUS1 |
1443 | Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy |
1444 | POLG |
1445 | Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy |
1446 | TYMP |
1447 | Mitochondrial respiratory chain complex II deficiency |
1448 | SDHA |
1449 | Mitochondrial respiratory chain disease, TIMM21 related |
1450 | TIMM21 |
1451 | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency |
1452 | ECHS1 |
1453 | Miyoshi muscular dystrophy type 3 |
1454 | ANO5 |
1455 | Miyoshi myopathy |
1456 | DYSF |
1457 | Multiple congenital anomalies-hypotonia-seizures syndrome type 3 |
1458 | PIGT |
1459 | Multiple mitochondrial dysfunctions syndrome type 1 |
1460 | NFU1 |
1461 | Multiple mitochondrial dysfunctions syndrome type 2 |
1462 | BOLA3 |
1463 | Multiple mitochondrial dysfunctions syndrome type 3 |
1464 | IBA57 |
1465 | Multiple mitochondrial dysfunctions syndrome type 4 |
1466 | ISCA2 |
1467 | Multisystemic smooth muscle dysfunction syndrome |
1468 | ACTA2 |
1469 | Muscle hypertrophy |
1470 | MSTN |
1471 | Muscle-eye-brain disease, POMK related |
1472 | POMK |
1473 | Muscular dystrophy type 1A |
1474 | LAMA2 |
1475 | Muscular dystrophy type 1C |
1476 | FKRP |
1477 | Muscular dystrophy type 1D |
1478 | LARGE1 |
1479 | Muscular dystrophy, Becker type |
1480 | DMD |
1481 | Muscular dystrophy, congenital, LMNA related |
1482 | LMNA |
1483 | Muscular dystrophy, congenital, megaconial type |
1484 | CHKB |
1485 | Muscular dystrophy, Duchenne type |
1486 | DMD |
1487 | Muscular dystrophy, limb-girdle type 2A |
1488 | CAPN3 |
1489 | Muscular dystrophy, limb-girdle, type 2Q |
1490 | PLEC |
1491 | Muscular dystrophy, oculopharyngeal |
1492 | PABPN1 |
1493 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A10 |
1494 | RXYLT1 |
1495 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 |
1496 | B4GAT1 |
1497 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 |
1498 | POMT2 |
1499 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 |
1500 | POMGNT1 |
1501 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8 |
1502 | POMGNT2 |
1503 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1 |
1504 | POMT1 |
1505 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B2 |
1506 | POMT2 |
1507 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3 |
1508 | POMGNT1 |
1509 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C2 |
1510 | POMT2 |
1511 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C3 |
1512 | POMGNT1 |
1513 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C9 |
1514 | DAG1 |
1515 | Muscular-skeletal disorder, CAPN1 related |
1516 | CAPN1 |
1517 | Myasthenia congenital with tubular aggregates 1 |
1518 | GFPT1 |
1519 | Myasthenic syndrome associated with acetylcholine receptor deficiency |
1520 | MUSK |
1521 | Myasthenic syndrome due to mutation in SCN4A |
1522 | SCN4A |
1523 | Myasthenic syndrome, congenital |
1524 | AGRN |
1525 | Myasthenic syndrome, congenital |
1526 | CHAT |
1527 | Myasthenic syndrome, congenital |
1528 | CHRNB1 |
1529 | Myasthenic syndrome, congenital |
1530 | CHRNE |
1531 | Myasthenic syndrome, congenital, fast channel |
1532 | CHRNA1 |
1533 | Myasthenic syndrome, congenital, slow-channel |
1534 | CHRNA1 |
1535 | Myasthenic syndrome, congenital, type 10 |
1536 | DOK7 |
1537 | Myasthenic syndrome, congenital, type 11, associated with acetylcholine receptor deficiency |
1538 | RAPSN |
1539 | Myasthenic syndrome, congenital, type 20, presynaptic |
1540 | SLC5A7 |
1541 | Myasthenic syndrome, congenital, type 3A, slow channel |
1542 | CHRND |
1543 | Myasthenic syndrome, congenital, type 3B, fast-channel |
1544 | CHRND |
1545 | Myasthenic syndrome, congenital, type 3C, associated with acetylcholine receptor deficiency |
1546 | CHRND |
1547 | Myoclonic dystonia, DRD2 related |
1548 | DRD2 |
1549 | Myoclonic epilepsy of Lafora |
1550 | EPM2A |
1551 | Myoclonic epilepsy of Lafora |
1552 | NHLRC1 |
1553 | Myoclonus, familial cortical |
1554 | NOL3 |
1555 | Myoglobinuria acute recurrent |
1556 | LPIN1 |
1557 | Myopathy due to Integrin 7A deficiency |
1558 | ITGA7 |
1559 | Myopathy due to myoadenylate deaminase deficiency |
1560 | AMPD1 |
1561 | Myopathy with extrapyramidal signs |
1562 | MICU1 |
1563 | Myopathy with fiber-type disproportion |
1564 | ACTA1 |
1565 | Myopathy with fiber-type disproportion |
1566 | SELENON |
1567 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset |
1568 | MEGF10 |
1569 | Myopathy, COL6A6 related |
1570 | COL6A6 |
1571 | Myopathy, desmin related, associated with mutation in the CRYAB gene |
1572 | CRYAB |
1573 | Myopathy, distal type 1 |
1574 | MYH7 |
1575 | Myopathy, distal type 4 |
1576 | FLNC |
1577 | Myopathy, distal with anterior tibial onset |
1578 | DYSF |
1579 | Myopathy, distal, Tateyama type |
1580 | CAV3 |
1581 | Myopathy, early-onset with fatal cardiomyopathy |
1582 | TTN |
1583 | Myopathy, lactic acidosis, and sideroblastic anemia type 2 |
1584 | YARS2 |
1585 | Myopathy, limb girdle with bone fragility |
1586 | MTAP |
1587 | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay |
1588 | GFER |
1589 | Myopathy, MT-TQ related |
1590 | MT-TQ |
1591 | Myopathy, myofibrillar type 6 |
1592 | BAG3 |
1593 | Myopathy, myofibrillar, Desmin related |
1594 | DES |
1595 | Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related |
1596 | CRYAB |
1597 | Myopathy, myofibrillar, ZASP related |
1598 | LDB3 |
1599 | Myopathy, scapulohumeroperoneal |
1600 | ACTA1 |
1601 | Myopathy, tubular aggregate, type 1 |
1602 | STIM1 |
1603 | Myosclerosis, autosomal recessive |
1604 | COL6A2 |
1605 | Myosin storage myopathy |
1606 | MYH7 |
1607 | Myotilinopathy |
1608 | MYOT |
1609 | Myotonia congenita |
1610 | CLCN1 |
1611 | Myotonic dystrophy type 1 |
1612 | DMPK |
1613 | Myotonic dystrophy type 2 |
1614 | CNBP |
1615 | Myotubular myopathy X-linked |
1616 | MTM1 |
1617 | Narcolepsy |
1618 | HCRT |
1619 | Nemaline myopathy type 1 |
1620 | TPM3 |
1621 | Nemaline myopathy type 2, autosomal recessive |
1622 | NEB |
1623 | Nemaline myopathy type 3 |
1624 | ACTA1 |
1625 | Nemaline myopathy type 4 |
1626 | TPM2 |
1627 | Nemaline myopathy type 5 |
1628 | TNNT1 |
1629 | Nemaline myopathy type 6 |
1630 | KBTBD13 |
1631 | Nemaline myopathy type 7 |
1632 | CFL2 |
1633 | Neonatal death due Leigh syndrome, MT-TV related |
1634 | MT-TV |
1635 | Neurodegeneration due to cerebral folate transport deficiency |
1636 | FOLR1 |
1637 | Neurodegeneration with brain iron accululation type 5 |
1638 | WDR45 |
1639 | Neurodegeneration with brain iron accumulation type 4 |
1640 | C19orf12 |
1641 | Neurodegeneration with brain iron accumulation type 6 |
1642 | COASY |
1643 | Neurodegeneration with brain iron accumulation, GTPBP2 related |
1644 | GTPBP2 |
1645 | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures |
1646 | BRAT1 |
1647 | Neurodevelopmental disorder, ADAM22 related |
1648 | ADAM22 |
1649 | Neurodevelopmental disorder, APC2-related |
1650 | APC2 |
1651 | Neurodevelopmental disorder, CNTNAP4 related |
1652 | CNTNAP4 |
1653 | Neurodevelopmental disorder, CROCC related |
1654 | CROCC |
1655 | Neurodevelopmental disorder, FRMPD4 related |
1656 | FRMPD4 |
1657 | Neurodevelopmental disorder, KCTD3 related |
1658 | KCTD3 |
1659 | Neurodevelopmental disorder, MACF1 related |
1660 | MACF1 |
1661 | Neurodevelopmental disorder, MTOR related |
1662 | MTOR |
1663 | Neurodevelopmental disorder, NGEF related |
1664 | NGEF |
1665 | Neurodevelopmental disorder, PIGQ related |
1666 | PIGQ |
1667 | Neurodevelopmental disorder, TUBB related |
1668 | TUBB |
1669 | Neurodevelopmental disorder, ZNF311 related |
1670 | ZNF311 |
1671 | Neurodevelopmental malformation and microcephaly |
1672 | KIF2A |
1673 | Neurodevelopmental malformation and microcephaly |
1674 | KIF5C |
1675 | Neurodevelopmental malformation and microcephaly |
1676 | TUBG1 |
1677 | Neurogenic scapuloperoneal syndrome, Kaeser type |
1678 | DES |
1679 | Neuromyotonia and axonal neuropathy, autosomal recessive |
1680 | HINT1 |
1681 | Neuronal migration disorder |
1682 | CTNNA2 |
1683 | Neuronal migration disorder |
1684 | EOMES |
1685 | Neuronal migration disorder |
1686 | SPTBN5 |
1687 | Neuronal migration disorder |
1688 | SRGAP2 |
1689 | Neuronopathy distal hereditary motor type 2A |
1690 | HSPB8 |
1691 | Neuronopathy distal hereditary motor type 2B |
1692 | HSPB1 |
1693 | Neuronopathy distal hereditary motor type 5 |
1694 | GARS1 |
1695 | Neuronopathy distal hereditary motor type 6 |
1696 | IGHMBP2 |
1697 | Neuronopathy distal hereditary motor type 7B |
1698 | DCTN1 |
1699 | Neuropathy sensor type 1E |
1700 | DNMT1 |
1701 | Neuropathy with liability to pressure palsies [HNPP] |
1702 | PMP22 |
1703 | Neuropathy with sensory ataxic, dysarthria, and ophthalmoparesis |
1704 | POLG |
1705 | Neuropathy, distal hereditary motor, type 5A |
1706 | BSCL2 |
1707 | Neuropathy, hereditary sensory and autonomic type 1C |
1708 | SPTLC2 |
1709 | Neuropathy, hereditary sensory and autonomic type 2 |
1710 | SCN9A |
1711 | Neuropathy, hereditary sensory and autonomic type 6 |
1712 | DST |
1713 | Neuropathy, hereditary sensory, type 1D |
1714 | ATL1 |
1715 | Neuropathy, hereditary sensory, type 1F |
1716 | ATL3 |
1717 | Neuropathy, hereditary sensory, with spastic paraplegia |
1718 | CCT5 |
1719 | Neutral lipid storage disease with myopathy |
1720 | PNPLA2 |
1721 | Niemann-Pick disease type C1 |
1722 | NPC1 |
1723 | Nonaka myopathy |
1724 | GNE |
1725 | Norrie disease |
1726 | NDP |
1727 | Occipital horn syndrome |
1728 | ATP7A |
1729 | Opitz G syndrome |
1730 | MID1 |
1731 | Oral-facial-digital syndrome type 1 |
1732 | OFD1 |
1733 | Pantothenate kinase-associated neurodegeneration |
1734 | PANK2 |
1735 | Paramyotonia congenita of von Eulenburg |
1736 | SCN4A |
1737 | Parietal foramina type 2 |
1738 | ALX4 |
1739 | PARK1 Parkinson |
1740 | SNCA |
1741 | PARK13 Parkinson |
1742 | HTRA2 |
1743 | PARK14 Parkinson |
1744 | PLA2G6 |
1745 | PARK15 Parkinson |
1746 | FBXO7 |
1747 | PARK17 Parkinson |
1748 | VPS35 |
1749 | PARK19 Parkinson, juvenile-onset |
1750 | DNAJC6 |
1751 | PARK2 Parkinson |
1752 | PRKN |
1753 | PARK20 Parkinson |
1754 | SYNJ1 |
1755 | PARK21 Parkinson |
1756 | DNAJC13 |
1757 | PARK4 Parkinson |
1758 | SNCA |
1759 | PARK5 Parkinson |
1760 | UCHL1 |
1761 | PARK6 Parkinson |
1762 | PINK1 |
1763 | PARK7 Parkinson |
1764 | PARK7 |
1765 | PARK8 Parkinson |
1766 | LRRK2 |
1767 | PARK9 Parkinson |
1768 | ATP13A2 |
1769 | Parkinson disease, late-onset, susceptibility to |
1770 | GBA |
1771 | Parkinson disease, susceptibility to, MT-TT related |
1772 | MT-TT |
1773 | Parkinsonism with spasticity, X-linked |
1774 | ATP6AP2 |
1775 | Parkinsonism-Dystonia, infantile |
1776 | SLC6A3 |
1777 | Paroxysmal exercise-induced dyskinesia with epilepsy and/or hemolytic anemia |
1778 | SLC2A1 |
1779 | Paroxysmal nonkinesigenic dyskinesia |
1780 | PNKD |
1781 | Partington syndrome |
1782 | ARX |
1783 | Pelizaeus-Merzbacher disease |
1784 | PLP1 |
1785 | Pelizaeus-Merzbacher disease |
1786 | SLC16A2 |
1787 | Peripheral demyelinating neuropathy Waardenburg syndrome and Hirschsprung disease |
1788 | SOX10 |
1789 | Periventricular heterotopia with microcephaly |
1790 | ARFGEF2 |
1791 | Peroxisome biogenesis disorder 14B |
1792 | PEX11B |
1793 | Peroxisome biogenesis disorder type 10A |
1794 | PEX3 |
1795 | Peroxisome biogenesis disorder type 1B |
1796 | PEX1 |
1797 | Peroxisome biogenesis disorder type 2A |
1798 | PEX5 |
1799 | Peroxisome biogenesis disorder type 2B |
1800 | PEX5 |
1801 | Perrault syndrome |
1802 | HSD17B4 |
1803 | Perrault syndrome type 2 |
1804 | HARS2 |
1805 | Perrault syndrome type 4 |
1806 | LARS2 |
1807 | Perrault syndrome type 5 |
1808 | TWNK |
1809 | Phosphoglycerate kinase 1 deficiency |
1810 | PGK1 |
1811 | Pick disease |
1812 | PSEN1 |
1813 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy |
1814 | TREM2 |
1815 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy |
1816 | TYROBP |
1817 | Polyglucosan body myopathy type 1 with or without immunodeficiency |
1818 | RBCK1 |
1819 | Polymicrogyria bilateral occipital |
1820 | NR2E1 |
1821 | Pompe disease |
1822 | GAA |
1823 | Pontocerebellar hypoplasia type 1A |
1824 | VRK1 |
1825 | Pontocerebellar hypoplasia type 1B |
1826 | EXOSC3 |
1827 | Pontocerebellar hypoplasia type 2A |
1828 | TSEN54 |
1829 | Pontocerebellar hypoplasia type 2B |
1830 | TSEN2 |
1831 | Pontocerebellar hypoplasia type 2C |
1832 | TSEN34 |
1833 | Pontocerebellar hypoplasia type 2D |
1834 | SEPSECS |
1835 | Pontocerebellar hypoplasia type 2E |
1836 | VPS53 |
1837 | Pontocerebellar hypoplasia type 4 |
1838 | TSEN54 |
1839 | Pontocerebellar hypoplasia type 5 |
1840 | TSEN54 |
1841 | Pontocerebellar hypoplasia type 6 |
1842 | RARS2 |
1843 | Pontocerebellar hypoplasia type 8 |
1844 | CHMP1A |
1845 | Pontocerebellar hypoplasia, type 10 |
1846 | CLP1 |
1847 | Pontocerebellar hypoplasia, type 9 |
1848 | AMPD2 |
1849 | Porencephaly type 2 |
1850 | COL4A2 |
1851 | Potassium-aggravated myotonia |
1852 | SCN4A |
1853 | Prader-Willi syndrome |
1854 | chr. 15q11 |
1855 | Prader-Willi syndrome |
1856 | NDN |
1857 | Prader-Willi syndrome |
1858 | SNRPN |
1859 | Primary lateral sclerosis, juvenile |
1860 | ALS2 |
1861 | Progressive external ophthalmoplegia with mitochondrial deletions type 1, autosomal dominant |
1862 | POLG |
1863 | Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal dominant |
1864 | SLC25A4 |
1865 | Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal recessive |
1866 | RNASEH1 |
1867 | Progressive external ophthalmoplegia with mitochondrial deletions type 3, autosomal dominant |
1868 | TWNK |
1869 | Progressive external ophthalmoplegia with mitochondrial deletions type 4, autosomal dominant |
1870 | POLG2 |
1871 | Progressive external ophthalmoplegia with mitochondrial deletions type 5, autosomal dominant |
1872 | RRM2B |
1873 | Progressive myoclonus epilepsy type 1A |
1874 | PRICKLE1 |
1875 | Progressive myoclonus epilepsy type 3 |
1876 | KCTD7 |
1877 | Progressive myoclonus epilepsy type 6 |
1878 | GOSR2 |
1879 | Progressive myoclonus epilepsy type 8 |
1880 | CERS1 |
1881 | Psychomotor retardation |
1882 | TANC1 |
1883 | Ptosis, congenital |
1884 | ZFHX4 |
1885 | Pyridoxine-dependent epilepsy |
1886 | ALDH7A1 |
1887 | Pyruvate carboxylase deficiency |
1888 | PC |
1889 | Raynaud-Claes syndrome |
1890 | CLCN4 |
1891 | Renpenning syndrome |
1892 | PQBP1 |
1893 | Rett syndrome preserved speech variant |
1894 | MECP2 |
1895 | Rigid spine muscular dystrophy |
1896 | SELENON |
1897 | Rippling muscle disease |
1898 | CAV3 |
1899 | Rolandic epilepsy, mental retardation, and speech dyspraxia |
1900 | SRPX2 |
1901 | Roussy-Levy syndrome |
1902 | PMP22 |
1903 | Salih ataxia |
1904 | RUBCN |
1905 | Scapuloperoneal myopathy, MYH7 related |
1906 | MYH7 |
1907 | Schizophrenia, CALR related |
1908 | CALR |
1909 | Schizophrenia, CELSR2 related |
1910 | CELSR2 |
1911 | Schizophrenia, GRID2 related |
1912 | GRID2 |
1913 | Schizophrenia, NOTCH4 related |
1914 | NOTCH4 |
1915 | Schwartz-Jampel syndrome type 1 |
1916 | HSPG2 |
1917 | Segawa syndrome, autosomal recessive |
1918 | TH |
1919 | Seizures, benign familial infantile, type 2 |
1920 | PRRT2 |
1921 | Seizures, benign neonatal, type 1 |
1922 | KCNQ2 |
1923 | Seizures, benign neonatal, type 2 |
1924 | KCNQ3 |
1925 | SESAME syndrome |
1926 | KCNJ10 |
1927 | Sialuria, finish type |
1928 | SLC17A5 |
1929 | Simpson-Golabi-Behmel syndrome type 1 |
1930 | GPC3 |
1931 | Sjogren-Larsson syndrome |
1932 | ALDH3A2 |
1933 | Slowed nerve conduction velocity, autosomanal dominant |
1934 | ARHGEF10 |
1935 | Smith-Magenis syndrome |
1936 | RAI1 |
1937 | Smith-Magenis syndrome, ULK2 related |
1938 | ULK2 |
1939 | Spastic ataxia Charlevoix-Saguenay type |
1940 | SACS |
1941 | Spastic ataxia type 1, autosomal dominant |
1942 | VAMP1 |
1943 | Spastic ataxia type 2, autosomal recessive |
1944 | KIF1C |
1945 | Spastic ataxia type 3, autosomal recessive |
1946 | MARS2 |
1947 | Spastic ataxia type 4, autosomal recessive |
1948 | MTPAP |
1949 | Spastic ataxia type 5, autosomal recessive |
1950 | AFG3L2 |
1951 | Spastic paralysis, infantile onset ascending |
1952 | ALS2 |
1953 | Spastic paraplegia type 74, autosomal recessive |
1954 | IBA57 |
1955 | SPG1 |
1956 | L1CAM |
1957 | SPG10 |
1958 | KIF5A |
1959 | SPG11 |
1960 | SPG11 |
1961 | SPG12 |
1962 | RTN2 |
1963 | SPG13 |
1964 | HSPD1 |
1965 | SPG15 |
1966 | ZFYVE26 |
1967 | SPG17 |
1968 | BSCL2 |
1969 | SPG18 |
No. | Description |
---|---|
1 | 7-hydroxylation activity deficiency |
2 | CYP17A1 |
3 | 2,4-dienoyl-CoA reductase 1 |
4 | DECR1 |
5 | 2,4-dienoyl-CoA reductase deficiency |
6 | NADK2 |
7 | 2-aminoadipic 2-oxoadipic aciduria |
8 | DHTKD1 |
9 | 2-methylbutyrylglycinuria |
10 | ACADSB |
11 | 3-beta-hydroxysteroid dehydrogenase deficiency type 2 |
12 | HSD3B2 |
13 | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency |
14 | HMGCL |
15 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency |
16 | HMGCS2 |
17 | 3-hydroxyacyl-CoA dehydrogenase deficiency |
18 | HADH |
19 | 3-hydroxyisobutryl-CoA hydrolase deficiency |
20 | HIBCH |
21 | 3-methylcrontonyl-CoA carboxylase 1 deficiency |
22 | MCCC1 |
23 | 3-methylcrontonyl-CoA carboxylase 2 deficiency |
24 | MCCC2 |
25 | 3-methylglutaconic aciduria type 1 |
26 | AUH |
27 | 3-methylglutaconic aciduria type 3 |
28 | OPA3 |
29 | 3-methylglutaconic aciduria type 5 |
30 | DNAJC19 |
31 | 3-methylglutaconic aciduria type 7, with cataracts, neurologic involvement and neutropenia |
32 | CLPB |
33 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
34 | SERAC1 |
35 | 6q24-related transient neonatal diabetes mellitus type 1 |
36 | UPD chr. 6 |
37 | Abetalipoproteinemia |
38 | MTTP |
39 | Acatalasemia |
40 | CAT |
41 | Acetycholinesterase deficiency |
42 | ACHE |
43 | Acetyl-CoA carboxylase deficiency |
44 | ACACA |
45 | Acute Alcohol sensitivity |
46 | ALDH2 |
47 | Acute hepatic porphyria |
48 | ALAD |
49 | Acyl-CoA medium-chain dehydrogenase deficiency |
50 | ACADM |
51 | Acyl-CoA multiple dehydrogenase deficiency |
52 | ETFA |
53 | Acyl-CoA multiple dehydrogenase deficiency |
54 | ETFB |
55 | Acyl-CoA short-chain dehydrogenase deficiency |
56 | ACADS |
57 | Acyl-CoA very long-chain dehydrogenase deficiency |
58 | ACADVL |
59 | Adenine phosphoribosyltransferase deficiency |
60 | APRT |
61 | Adenylosuccinase deficiency |
62 | ADSL |
63 | Adrenal hyperplasia due to 21-hydroxylase deficiency |
64 | CYP21A2 |
65 | Adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
66 | POR |
67 | Adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency |
68 | CYP11B1 |
69 | Adrenal hypoplasia |
70 | NR0B1 |
71 | AICA-ribosiduria due to ATIC deficiency |
72 | ATIC |
73 | Alkaptonuria |
74 | HGD |
75 | Alpha-2-macroglobulin deficiency |
76 | A2M |
77 | Alpha-ketoglutarate dehydrogenase deficiency |
78 | OGDH |
79 | Alpha-methylacyl CoA racemase deficiency |
80 | AMACR |
81 | Aminoacylase deficiency |
82 | ACY1 |
83 | AMP deaminase deficiency, erythrocytic |
84 | AMPD3 |
85 | Amyloidosis, familial visceral |
86 | APOA1 |
87 | Andersen disease |
88 | GBE1 |
89 | Anemia dyserythropoietic type 1A |
90 | CDAN1 |
91 | Anemia dyserythropoietic type 2 |
92 | SEC23B |
93 | Antitrypsin-alpha-1 deficiency |
94 | SERPINA1 |
95 | Aplastic anemia |
96 | PRF1 |
97 | Aplastic anemia, SBDS related |
98 | SBDS |
99 | Apolipoprotein A-II deficiency |
100 | APOA2 |
101 | Apolipoprotein C-II deficiency |
102 | APOC2 |
103 | Apparent mineralocorticoid excess |
104 | HSD11B2 |
105 | Arginase deficiency |
106 | ARG1 |
107 | Arginine-glycine amidinotransferase deficiency |
108 | GATM |
109 | Argininosuccinic aciduria |
110 | ASL |
111 | Aromatic L-amino acid decarboxylase deficiency (AADC) |
112 | DDC |
113 | Asparaginesynthetase deficiency |
114 | ASNS |
115 | Aspartylglucosaminuria |
116 | AGA |
117 | Beta-Galactosamide alpha-2,6-Sialyltransferase 2 deficiency |
118 | ST6GAL2 |
119 | Beta-ureidopropionase deficiency |
120 | UPB1 |
121 | Bile acid malabsorption, primary |
122 | SLC10A2 |
123 | Bile acid synthesis defect type 1, congenital |
124 | HSD3B7 |
125 | Bile acid synthesis defect type 2, congenital |
126 | AKR1D1 |
127 | Bile acid synthesis defect type 3, congenital |
128 | CYP7B1 |
129 | Bile acid synthesis defect type 4, congenital |
130 | AMACR |
131 | Bile acid synthesis defect type 5, congenital |
132 | ABCD3 |
133 | Biotinidase deficiency |
134 | BTD |
135 | Bloom syndrome |
136 | BLM |
137 | Branched-chain aminotransferase 1 deficiency |
138 | BCAT1 |
139 | Branched-chain aminotransferase 2 deficiency |
140 | BCAT2 |
141 | Branched-chain ketoacid dehydrogenase kinase deficiency |
142 | BCKDK |
143 | Bronchiectasis with or without elevated sweat chloride type 2 |
144 | SCNN1A |
145 | Butyrylcholinesterase deficiency |
146 | BCHE |
147 | Carbamoylphosphate synthetase I deficiency |
148 | CPS1 |
149 | Carnitine deficiency |
150 | SLC22A5 |
151 | Carnitine palmitoyltransferase 1A deficiency |
152 | CPT1A |
153 | Carnitine palmitoyltransferase 1B deficiency |
154 | CPT1B |
155 | Carnitine palmitoyltransferase 2 deficiency, infantile |
156 | CPT2 |
157 | Carnitine palmitoyltransferase 2 deficiency, lethal neonatal |
158 | CPT2 |
159 | Carnitine-acylcarnitine translocase deficiency |
160 | SLC25A20 |
161 | Catechol-o-methyltransferase deficiency |
162 | COMT |
163 | Ceroid lipofuscinosis neuronal type 1 |
164 | PPT1 |
165 | Ceroid lipofuscinosis neuronal type 10 |
166 | CTSD |
167 | Ceroid lipofuscinosis neuronal type 11 |
168 | GRN |
169 | Ceroid lipofuscinosis neuronal type 2 |
170 | TPP1 |
171 | Ceroid lipofuscinosis neuronal type 3 |
172 | CLN3 |
173 | Ceroid lipofuscinosis neuronal type 4 |
174 | DNAJC5 |
175 | Ceroid lipofuscinosis neuronal type 5 |
176 | CLN5 |
177 | Ceroid lipofuscinosis neuronal type 6 |
178 | CLN6 |
179 | Ceroid lipofuscinosis neuronal type 7 |
180 | MFSD8 |
181 | Ceroid lipofuscinosis neuronal type 8 |
182 | CLN8 |
183 | Chanarin-Dorfman syndrome |
184 | ABHD5 |
185 | Chloramphenicol resistance, MT-RNR2 related |
186 | MT-RNR2 |
187 | Cholestasis benign recurrent intrahepatic type 2 |
188 | ABCB11 |
189 | Cholestasis intrahepatic, of pregnancy, type 3 |
190 | ABCB4 |
191 | Cholestasis progressive intrahepatic type 1 |
192 | ATP8B1 |
193 | Cholestasis progressive intrahepatic type 2 |
194 | ABCB11 |
195 | Cholestasis progressive intrahepatic type 3 |
196 | ABCB4 |
197 | Cholestasis, benign recurrent intrahepatic |
198 | ATP8B1 |
199 | Cholestasis, intrahepatic, of pregnancy, type 1 |
200 | ATP8B1 |
201 | Cholesteryl ester storage disease |
202 | LIPA |
203 | Chylomicron retention disease |
204 | SAR1B |
205 | Citrin deficiency |
206 | SLC25A13 |
207 | Citrullinemia |
208 | ASS1 |
209 | Coenzyme Q10 deficiency type 6 |
210 | COQ6 |
211 | Coenzyme Q10 deficiency type 7 |
212 | COQ4 |
213 | Colchicine resistance |
214 | ABCB1 |
215 | Combined D-2- and L-2-hydroxyglutaric aciduria |
216 | SLC25A1 |
217 | Combined malonic and methylmalonic aciduria |
218 | ACSF3 |
219 | Combined oxidative phosphorylation deficiency type 1 |
220 | GFM1 |
221 | Combined oxidative phosphorylation deficiency type 10 |
222 | MTO1 |
223 | Combined oxidative phosphorylation deficiency type 11 |
224 | RMND1 |
225 | Combined oxidative phosphorylation deficiency type 12 |
226 | EARS2 |
227 | Combined oxidative phosphorylation deficiency type 13 |
228 | PNPT1 |
229 | Combined oxidative phosphorylation deficiency type 14 |
230 | FARS2 |
231 | Combined oxidative phosphorylation deficiency type 15 |
232 | MTFMT |
233 | Combined oxidative phosphorylation deficiency type 16 |
234 | MRPL44 |
235 | Combined oxidative phosphorylation deficiency type 17 |
236 | ELAC2 |
237 | Combined oxidative phosphorylation deficiency type 18 |
238 | SFXN4 |
239 | Combined oxidative phosphorylation deficiency type 19 |
240 | LYRM4 |
241 | Combined oxidative phosphorylation deficiency type 2 |
242 | MRPS16 |
243 | Combined oxidative phosphorylation deficiency type 20 |
244 | VARS2 |
245 | Combined oxidative phosphorylation deficiency type 21 |
246 | TARS2 |
247 | Combined oxidative phosphorylation deficiency type 22 |
248 | ATP5F1A |
249 | Combined oxidative phosphorylation deficiency type 23 |
250 | GTPBP3 |
251 | Combined oxidative phosphorylation deficiency type 24 |
252 | NARS2 |
253 | Combined oxidative phosphorylation deficiency type 25 |
254 | MARS2 |
255 | Combined oxidative phosphorylation deficiency type 26 |
256 | TRMT5 |
257 | Combined oxidative phosphorylation deficiency type 3 |
258 | TSFM |
259 | Combined oxidative phosphorylation deficiency type 4 |
260 | TUFM |
261 | Combined oxidative phosphorylation deficiency type 5 |
262 | MRPS22 |
263 | Combined oxidative phosphorylation deficiency type 6 |
264 | AIFM1 |
265 | Combined oxidative phosphorylation deficiency type 7 |
266 | C12ORF65 |
267 | Combined oxidative phosphorylation deficiency type 8 |
268 | AARS2 |
269 | Combined oxidative phosphorylation deficiency type 9 |
270 | MRPL3 |
271 | Congenital disorder of glycosylation, type Ip |
272 | ALG11 |
273 | Congenital disorder of glycosylation, type Iq |
274 | SRD5A3 |
275 | Congenital disorder of glycosylation, type Iw |
276 | STT3A |
277 | Coproporphyria |
278 | CPOX |
279 | Coronary artery disease, susceptibility to |
280 | LPA |
281 | Coumarin resistance |
282 | VKORC1 |
283 | Coumarin/Warfarin resistance due to CYP2C9 variants |
284 | CYP2C9 |
285 | CR1 deficiency |
286 | CR1 |
287 | Creatine deficiency syndrome X-linked |
288 | SLC6A8 |
289 | CYP2C19 related poor drug metabolism |
290 | CYP2C19 |
291 | Cystathioninuria |
292 | CTH |
293 | Cystic fibrosis |
294 | CFTR |
295 | Cystic fibrosis, SLC6A14 related |
296 | SLC6A14 |
297 | Cystinosis, nephropathic |
298 | CTNS |
299 | Cytochrome P450 deficiency |
300 | CYP1A2 |
301 | D-2-hydroxyglutaric aciduria type 1 |
302 | D2HGDH |
303 | D-2-hydroxyglutaric aciduria type 2 |
304 | IDH2 |
305 | D-bifunctional protein deficiency |
306 | HSD17B4 |
307 | D-glyceric aciduria |
308 | GLYCTK |
309 | Diabetes insipidus, nephrogenic, X-linked |
310 | AVPR2 |
311 | Diabetes insipidus, neurohypophyseal |
312 | AVP |
313 | Diabetes mellitus type 1 |
314 | INS |
315 | Diabetes mellitus, insulin-dependent type 20 |
316 | HNF1A |
317 | Diabetes mellitus, insulin-resistant with acanthosis nigricans |
318 | INSR |
319 | Diabetes mellitus, neonatal |
320 | GLIS3 |
321 | Diabetes mellitus, noninsulin-dependent |
322 | ABCC8 |
323 | Diabetes mellitus, noninsulin-dependent |
324 | AKT2 |
325 | Diabetes mellitus, noninsulin-dependent |
326 | KCNJ11 |
327 | Diabetes mellitus, permanent neonatal |
328 | ABCC8 |
329 | Diabetes mellitus, transient neonatal type 2 |
330 | ABCC8 |
331 | Diabetes, IGF2 related |
332 | IGF2 |
333 | Diarrhea type 1, secretory chloride, congenital |
334 | SLC26A3 |
335 | Diarrhea type 3, secretory sodium, congenital, syndromic |
336 | SPINT2 |
337 | Diarrhea type 4, malabsorptive, congenital |
338 | NEUROG3 |
339 | Dihydropyrimidine dehydrogenase deficiency |
340 | DPYD |
341 | Dihydropyrimidinuria |
342 | DPYS |
343 | Dimethylglycine dehydrogenase deficiency |
344 | DMGDH |
345 | Dyggve-Melchior-Clausen disease |
346 | DYM |
347 | Efavirenz, poor metabolism of |
348 | CYP2B6 |
349 | Enterokinase deficiency |
350 | TMPRSS15 |
351 | Erythrocyte lactate transporter defect |
352 | SLC16A1 |
353 | Fabry disease |
354 | GLA |
355 | Factor II deficiency |
356 | F2 |
357 | Factor V deficiency |
358 | F5 |
359 | Factor XIIIB deficiency |
360 | F13B |
361 | Fanconi anemia type A |
362 | FANCA |
363 | Fanconi anemia type B |
364 | FANCB |
365 | Fanconi anemia type C |
366 | FANCC |
367 | Fanconi anemia type D1 |
368 | BRCA2 |
369 | Fanconi anemia type D2 |
370 | FANCD2 |
371 | Fanconi anemia type E |
372 | FANCE |
373 | Fanconi anemia type F |
374 | FANCF |
375 | Fanconi anemia type G |
376 | FANCG |
377 | Fanconi anemia type I |
378 | FANCI |
379 | Fanconi anemia type J |
380 | BRIP1 |
381 | Fanconi anemia type L |
382 | FANCL |
383 | Fanconi anemia type M |
384 | FANCM |
385 | Fanconi anemia type N |
386 | PALB2 |
387 | Fanconi anemia type P |
388 | SLX4 |
389 | Fanconi anemia, XRCCR2 related |
390 | XRCC2 |
391 | Fanconi-Bickel syndrome |
392 | SLC2A2 |
393 | Farber disease |
394 | ASAH1 |
395 | Favism, susceptibility to |
396 | G6PD |
397 | Fish eye disease |
398 | LCAT |
399 | Fructose intolerance |
400 | ALDOB |
401 | Fructose uptake deficiency, SLC2A5 related |
402 | SLC2A5 |
403 | Fructose-1,6-bisphosphatase deficiency |
404 | FBP1 |
405 | Fructosuria essential |
406 | KHK |
407 | Fucosidosis |
408 | FUCA1 |
409 | Fumarase deficiency |
410 | FH |
411 | GABA-transaminase deficiency |
412 | ABAT |
413 | Galactokinase deficiency |
414 | GALK1 |
415 | Galactose epimerase deficiency |
416 | GALE |
417 | Galactosemia |
418 | GALT |
419 | Galactosialidosis |
420 | CTSA |
421 | Gallbladder disease type 1 |
422 | ABCB4 |
423 | Gaucher disease type 1 |
424 | GBA |
425 | Gaucher disease type 2 |
426 | GBA |
427 | Gaucher disease type 3 |
428 | GBA |
429 | Gaucher disease type 3C |
430 | GBA |
431 | Gaucher disease, atypical |
432 | PSAP |
433 | Gaucher disease, perinatal lethal |
434 | GBA |
435 | Glucocorticoid deficiency type 1 |
436 | MC2R |
437 | Glucocorticoid deficiency type 2 |
438 | MRAP |
439 | Glucocorticoid deficiency type 4, with or without mineralocorticoid deficiency |
440 | NNT |
441 | Glucose/Galactose malabsorption |
442 | SLC5A1 |
443 | Glutamate formiminotransferase deficiency |
444 | FTCD |
445 | Glutamine deficiency, congenital |
446 | GLUL |
447 | Glutaric acidemia type 1 |
448 | GCDH |
449 | Glutaric acidemia type 2C |
450 | ETFDH |
451 | Glutaric aciduria type 3 |
452 | SUGCT |
453 | Glutathione S-transferase theta-1 defficiency |
454 | GSTT1 |
455 | Glutathione synthetase deficiency |
456 | GSS |
457 | Glycerol kinase deficiency |
458 | GK |
459 | Glycine encephalopathy with normal serum glycine |
460 | SLC6A9 |
461 | Glycogen storage disease of heart (lethal) |
462 | PRKAG2 |
463 | Glycogen storage disease type 0 |
464 | GYS2 |
465 | Glycogen storage disease type 0 muscle |
466 | GYS1 |
467 | Glycogen storage disease type 10 |
468 | PGAM2 |
469 | Glycogen storage disease type 11 |
470 | LDHA |
471 | Glycogen storage disease type 12 |
472 | ALDOA |
473 | Glycogen storage disease type 13 |
474 | ENO3 |
475 | Glycogen storage disease type 14 |
476 | PGM1 |
477 | Glycogen storage disease type 15 |
478 | GYG1 |
479 | Glycogen storage disease type 1A |
480 | G6PC |
481 | Glycogen storage disease type 2 |
482 | GAA |
483 | Glycogen storage disease type 3 |
484 | AGL |
485 | Glycogen storage disease type 4 |
486 | GBE1 |
487 | Glycogen storage disease type 5 |
488 | PYGM |
489 | Glycogen storage disease type 6B |
490 | PYGL |
491 | Glycogen storage disease type 7 |
492 | PFKM |
493 | Glycogen storage disease type 9A |
494 | PHKA2 |
495 | Glycogen storage disease type 9B |
496 | PHKB |
497 | Glycogen storage disease type 9C |
498 | PHKG2 |
499 | Glycosylation disorder type 1A |
500 | PMM2 |
501 | Glycosylation disorder type 1B |
502 | MPI |
503 | Glycosylation disorder type 1C |
504 | ALG6 |
505 | Glycosylation disorder type 1D |
506 | ALG3 |
507 | Glycosylation disorder type 1E |
508 | DPM1 |
509 | Glycosylation disorder type 1F |
510 | MPDU1 |
511 | Glycosylation disorder type 1G |
512 | ALG12 |
513 | Glycosylation disorder type 1H |
514 | ALG8 |
515 | Glycosylation disorder type 1I |
516 | ALG2 |
517 | Glycosylation disorder type 1J |
518 | DPAGT1 |
519 | Glycosylation disorder type 1K |
520 | ALG1 |
521 | Glycosylation disorder type 1L |
522 | ALG9 |
523 | Glycosylation disorder type 1M |
524 | DOLK |
525 | Glycosylation disorder type 1N |
526 | RFT1 |
527 | Glycosylation disorder type 1O |
528 | DPM3 |
529 | Glycosylation disorder type 1S |
530 | ALG13 |
531 | Glycosylation disorder type 1U |
532 | DPM2 |
533 | Glycosylation disorder type 2A |
534 | MGAT2 |
535 | Glycosylation disorder type 2B |
536 | MOGS |
537 | Glycosylation disorder type 2C |
538 | SLC35C1 |
539 | Glycosylation disorder type 2D |
540 | B4GALT1 |
541 | Glycosylation disorder type 2E |
542 | COG7 |
543 | Glycosylation disorder type 2F |
544 | SLC35A1 |
545 | Glycosylation disorder type 2G |
546 | COG1 |
547 | Glycosylation disorder type 2H |
548 | COG8 |
549 | Glycosylation disorder type 2I |
550 | COG5 |
551 | Glycosylation disorder type 2J |
552 | COG4 |
553 | Glycosylation disorder type 2K |
554 | TMEM165 |
555 | Glycosylation disorder type 2M |
556 | SLC35A2 |
557 | Glycosylation disorder type 3 |
558 | COG6 |
559 | Glycosylation disorder type IR |
560 | DDOST |
561 | Glycosylation disorder x-linked |
562 | SSR4 |
563 | GM1-gangliosidosis type 1 |
564 | GLB1 |
565 | GM1-gangliosidosis type 2 |
566 | GLB1 |
567 | GM2-gangliosidosis type 2 |
568 | HEXB |
569 | Guanidinoacetate methyltransferase deficiency |
570 | GAMT |
571 | Hartnup disorder |
572 | SLC6A19 |
573 | Hawkinsinuria |
574 | HPD |
575 | HDL deficiency, type 2 |
576 | ABCA1 |
577 | Hemochromatosis classical |
578 | HFE |
579 | Hemochromatosis type 2A |
580 | HJV |
581 | Hemochromatosis type 2B |
582 | HAMP |
583 | Hemochromatosis type 3 |
584 | TFR2 |
585 | Hemochromatosis type 4 |
586 | SLC40A1 |
587 | Hemolytic anemia due to G6PD deficiency |
588 | G6PD |
589 | Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency |
590 | GPI |
591 | Hemophilia A |
592 | F8 |
593 | High density lipoprotein cholesterol level QTL 10 |
594 | CETP |
595 | Holocarboxylase synthetase deficiency |
596 | HLCS |
597 | Hurler syndrome |
598 | IDUA |
599 | Hurler-Scheie syndrome |
600 | IDUA |
601 | Hydrops, lactic acidosis, and sideroblastic anemia |
602 | LARS2 |
603 | Hyperalphalipoproteinemia |
604 | CETP |
605 | Hyperammonemia due to carbonic anhydrase VA deficiency |
606 | CA5A |
607 | Hypercalcemia infantile type |
608 | CYP24A1 |
609 | Hyperchlorhidrosis, isolated |
610 | CA12 |
611 | Hypercholanemia |
612 | BAAT |
613 | Hypercholanemia |
614 | TJP2 |
615 | Hypercholesterolemia autosomal dominant type 3 |
616 | PCSK9 |
617 | Hypercholesterolemia autosomal recessive |
618 | LDLRAP1 |
619 | Hypercholesterolemia due to LDL-receptor-disorder autosomal dominant |
620 | LDLR |
621 | Hypercholesterolemia type B autosomanl dominant |
622 | APOB |
623 | Hypercholesterolemia, familial, due to LDLR defect, modifier of |
624 | EPHX2 |
625 | Hypercholesterolemia, familial, modifier of |
626 | APOA2 |
627 | Hypercholesterolemia, susceptibility to |
628 | ITIH4 |
629 | Hypercholesterolemia, susceptibility to |
630 | PPP1R17 |
631 | Hyperchylomicronemia type 5 |
632 | APOA5 |
633 | Hyperinsulinaemia, association with, G6PC2 related |
634 | G6PC2 |
635 | Hyperinsulinemic hypoglycemia type 1 |
636 | ABCC8 |
637 | Hyperinsulinemic hypoglycemia type 2 |
638 | KCNJ11 |
639 | Hyperinsulinemic hypoglycemia type 3 |
640 | GCK |
641 | Hyperinsulinemic hypoglycemia type 6 |
642 | GLUD1 |
643 | Hyperinsulinemic hypoglycemia type 7 |
644 | SLC16A1 |
645 | Hyperinsulinism, UCP2 related |
646 | UCP2 |
647 | Hyperlipidemia, familial combined, susceptibility to |
648 | USF1 |
649 | Hyperlipoproteinemia type 1 |
650 | LPL |
651 | Hyperlysinemia type 1 |
652 | AASS |
653 | Hypermanganesemia with dystonia, polycythemia and cirrhosis |
654 | SLC30A10 |
655 | Hypermethioninemia due to adenosine kinase deficiency |
656 | ADK |
657 | Hyperornithinemia- Hyperammonemia - Homocitrullinuria syndrome |
658 | SLC25A15 |
659 | Hyperoxaluria type 1 |
660 | AGXT |
661 | Hyperoxaluria type 2 |
662 | GRHPR |
663 | Hyperoxaluria type 3 |
664 | HOGA1 |
665 | Hyperoxaluria, SLC26A6 related |
666 | SLC26A6 |
667 | Hyperphenylalaninemia, BH4 deficient, type C |
668 | QDPR |
669 | Hyperphenylalaninemia, BH4 deficient, type D |
670 | PCBD1 |
671 | Hyperphenylalaninemia, BH4-deficient, type A |
672 | PTS |
673 | Hyperprolinemia type 1 |
674 | PRODH |
675 | Hyperprolinemia type 2 |
676 | ALDH4A1 |
677 | Hypertriglyceridemia, susceptibility to |
678 | LIPI |
679 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis |
680 | SARS2 |
681 | Hypoaldosteronism congenital due to CMO I deficiency |
682 | CYP11B2 |
683 | Hypoaldosteronism, congenital, due to CMO II deficiency |
684 | CYP11B2 |
685 | Hypoalphalipoproteinemia |
686 | APOA1 |
687 | Hypobetalipoproteinemia type 1 |
688 | APOB |
689 | Hypocalcemia, autosomal dominant 2 |
690 | GNA11 |
691 | Hypocalciuric hypercalcemia, familial type 3 |
692 | AP2S1 |
693 | Hypoglycemia of infancy, leucine-sensitive |
694 | ABCC8 |
695 | Hypoinsulinemic hypoglycemia with hemihypertrophy |
696 | AKT2 |
697 | Hypomagnesemia type 1 |
698 | TRPM6 |
699 | Hypomagnesemia type 2 |
700 | FXYD2 |
701 | Hypomagnesemia type 3 |
702 | CLDN16 |
703 | Hypomagnesemia type 4 |
704 | EGF |
705 | Hypomagnesemia type 5 |
706 | CLDN19 |
707 | Hypomagnesemia type 6 |
708 | CNNM2 |
709 | Hypophosphatasia, adult |
710 | ALPL |
711 | Hypophosphatasia, childhood |
712 | ALPL |
713 | Hypophosphatasia, infantile |
714 | ALPL |
715 | Hypophosphatemic rickets with hypercalciuria |
716 | SLC34A3 |
717 | Hypophosphatemic rickets, autosomal dominant |
718 | FGF23 |
719 | Hypouricemia, renal type 1 |
720 | SLC22A12 |
721 | Hypouricemia, renal type 2 |
722 | SLC2A9 |
723 | Insulin-like growth factor resistance |
724 | IGF1R |
725 | Isobutyryl-CoA dehydrogenase deficiency |
726 | ACAD8 |
727 | Isovaleric acidemia |
728 | IVD |
729 | Krabbe disease |
730 | GALC |
731 | Krabbe disease, atypical |
732 | PSAP |
733 | L-2-hydroxyglutaric aciduria |
734 | L2HGDH |
735 | Lactase deficiency, congenital |
736 | LCT |
737 | Lactate dehydrogenase-B deficiency |
738 | LDHB |
739 | Lacticacidemia due to PDX1 deficiency |
740 | PDHX |
741 | Lactose intolerance, adult type |
742 | MCM6 |
743 | LCAD deficiency |
744 | ACADL |
745 | LCAT DEFICIENCY |
746 | LCAT |
747 | Leukocyte adhesion deficiency |
748 | ITGB1 |
749 | Leukocyte adhesion deficiency |
750 | ITGB2 |
751 | Lipodystrophy generalized type 1 |
752 | AGPAT2 |
753 | Lipodystrophy generalized type 2 |
754 | BSCL2 |
755 | Lipodystrophy generalized type 4 |
756 | CAVIN1 |
757 | Lipodystrophy type 2, familial partial |
758 | LMNA |
759 | Lipodystrophy, familial partial, type 3 |
760 | PPARG |
761 | Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
762 | HADHA |
763 | LPA deficiency, congenital |
764 | LPA |
765 | Lung alpha-beta hydrolase deficiency type 1 |
766 | ABHD1 |
767 | Lysosomal acid phosphatase deficiency |
768 | ACP2 |
769 | Malonyl-CoA decarboxylase deficiency |
770 | MLYCD |
771 | Mannose-binding protein deficiency |
772 | MBL2 |
773 | Mannosidosis, beta A, lysosomal-like |
774 | MANBAL |
775 | Mannosidosis-alpha |
776 | MAN2B1 |
777 | Mannosidosis-beta |
778 | MANBA |
779 | Maple syrup urine disease type 1a |
780 | BCKDHA |
781 | Maple syrup urine disease type 1b |
782 | BCKDHB |
783 | Maple syrup urine disease type 2 |
784 | DBT |
785 | Maple syrup urine disease type 3 |
786 | DLD |
787 | Maple syrup urine disease, mild variant |
788 | PPM1K |
789 | Maturity-onset diabetes of the young type 1 |
790 | HNF4A |
791 | Maturity-onset diabetes of the young type 10 |
792 | INS |
793 | Maturity-onset diabetes of the young type 11 |
794 | BLK |
795 | Maturity-onset diabetes of the young type 2 |
796 | GCK |
797 | Maturity-onset diabetes of the young type 3 |
798 | HNF1A |
799 | Maturity-onset diabetes of the young type 4 |
800 | PDX1 |
801 | Maturity-onset diabetes of the young type 5 |
802 | HNF1B |
803 | Maturity-onset diabetes of the young type 6 |
804 | NEUROD1 |
805 | Maturity-onset diabetes of the young type 7 |
806 | KLF11 |
807 | Maturity-onset diabetes of the young type 8 |
808 | CEL |
809 | Maturity-onset diabetes of the young type 9 |
810 | PAX4 |
811 | Maturity-onset diabetes of the young, NKX2-2 related |
812 | NKX2-2 |
813 | Maturity-onset diabetes of the young, RFX6 related |
814 | RFX6 |
815 | Maturity-onset diabetes of the young, ZFP57 related |
816 | ZFP57 |
817 | Mediterranean fever |
818 | MEFV |
819 | MELAS syndrome, MT-TL1 related |
820 | MT-TL1 |
821 | Metachromatic Leukodystrophy |
822 | ARSA |
823 | Methylacetoacetic aciduria |
824 | ACAT1 |
825 | Methylcobalamin deficiency CblG type |
826 | MTR |
827 | Methylmalonate semialdehyde dehydrogenase deficiency |
828 | ALDH6A1 |
829 | Methylmalonic aciduria CblA type |
830 | MMAA |
831 | Methylmalonic aciduria CblB type |
832 | MMAB |
833 | Methylmalonic aciduria CblC type |
834 | MMACHC |
835 | Methylmalonic aciduria CblD type |
836 | MMADHC |
837 | Methylmalonic aciduria CblF type |
838 | LMBRD1 |
839 | Methylmalonic aciduria CblJ type |
840 | ABCD4 |
841 | Methylmalonic aciduria CblR type |
842 | CD320 |
843 | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
844 | MMUT |
845 | Methylmalonyl-CoA epimerase deficiency |
846 | MCEE |
847 | Mevalonic aciduria |
848 | MVK |
849 | Microvascular complications of diabetes type 1 |
850 | VEGFA |
851 | Microvascular complications of diabetes type 6, susceptibility to |
852 | SOD2 |
853 | Mirage syndrome |
854 | SAMD9 |
855 | Mitchell-Riley syndrome |
856 | RFX6 |
857 | Mitochondrial complex III deficiency, nuclear type 7 |
858 | UQCC2 |
859 | Mitochondrial phosphate carrier deficiency |
860 | SLC25A3 |
861 | Mitochondrial pyruvate carrier deficiency |
862 | MPC1 |
863 | Molybdenum cofactor deficiency type A |
864 | MOCS1 |
865 | Molybdenum cofactor deficiency type B |
866 | MOCS2 |
867 | Molybdenum cofactor deficiency type C |
868 | GPHN |
869 | Monocarboxylate transporter 1 deficiency |
870 | SLC16A1 |
871 | Mucolipidosis type 2 alpha/beta |
872 | GNPTAB |
873 | Mucolipidosis type 3 |
874 | GNPTAB |
875 | Mucolipidosis type 3 gamma |
876 | GNPTG |
877 | Mucolipidosis type 4 |
878 | MCOLN1 |
879 | Mucopolysaccharidosis type 1H |
880 | IDUA |
881 | Mucopolysaccharidosis type 2 |
882 | IDS |
883 | Mucopolysaccharidosis type 3A |
884 | SGSH |
885 | Mucopolysaccharidosis type 3B |
886 | NAGLU |
887 | Mucopolysaccharidosis type 3C |
888 | HGSNAT |
889 | Mucopolysaccharidosis type 3D |
890 | GNS |
891 | Mucopolysaccharidosis type 4A |
892 | GALNS |
893 | Mucopolysaccharidosis type 4B |
894 | GLB1 |
895 | Mucopolysaccharidosis type 6 |
896 | ARSB |
897 | Mucopolysaccharidosis type 7 |
898 | GUSB |
899 | Mucopolysaccharidosis type 9 |
900 | HYAL1 |
901 | Muscle glycogenosis |
902 | PHKA1 |
903 | Myopathy due to myoadenylate deaminase deficiency |
904 | AMPD1 |
905 | N-acetylglutamate synthase deficiency |
906 | NAGS |
907 | Neuraminidase deficiency |
908 | NEU1 |
909 | Niemann-Pick disease type A/B |
910 | SMPD1 |
911 | Niemann-Pick disease type C1 |
912 | NPC1 |
913 | Niemann-Pick disease type C2 |
914 | NPC2 |
915 | Odontohypophosphatasia |
916 | ALPL |
917 | Ornithine transcarbamoylase deficiency |
918 | OTC |
919 | Orotic aciduria |
920 | UMPS |
921 | Pancreatic agenesis type 2 |
922 | PTF1A |
923 | Pancreatic and cerebellar agenesis |
924 | PTF1A |
925 | Pentosuria |
926 | DCXR |
927 | Periodic fever autosomal dominant |
928 | TNFRSF1A |
929 | Phenylketonuria |
930 | PAH |
931 | Phenylketonuria modifier, SLC7A5 related |
932 | SLC7A5 |
933 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic |
934 | PCK1 |
935 | Phosphoenolpyruvate carboxykinase deficiency, mitochondrial |
936 | PCK2 |
937 | Phosphoglycerate dehydrogenase deficiency |
938 | PHGDH |
939 | Phosphoribosylpyrophosphate synthetase superactivity |
940 | PRPS1 |
941 | Phosphoserine aminotransferase deficiency |
942 | PSAT1 |
943 | Phosphoserine phosphatase deficiency |
944 | PSPH |
945 | Pituitary stalk interruption syndrome, GPR161 related |
946 | GPR161 |
947 | Pompe disease |
948 | GAA |
949 | Porphyria acute intermittent |
950 | HMBS |
951 | Porphyria congenital erythropoietic |
952 | UROS |
953 | Porphyria variegata |
954 | PPOX |
955 | Prolidase deficiency |
956 | PEPD |
957 | Propionic acidemia |
958 | PCCA |
959 | Propionic acidemia |
960 | PCCB |
961 | Prosaposin deficiency |
962 | PSAP |
963 | Protoporphyria, erythropoietic, X-linked |
964 | ALAS2 |
965 | Pseudohermaphroditism with gynecomastia |
966 | HSD17B3 |
967 | Pyridoxamine 5'-phosphate oxidase deficiency |
968 | PNPO |
969 | Pyruvate carboxylase deficiency |
970 | PC |
971 | Pyruvate dehydrogenase E1-alpha deficiency |
972 | PDHA1 |
973 | Pyruvate dehydrogenase E1-beta deficiency |
974 | PDHB |
975 | Pyruvate dehydrogenase E2 deficiency |
976 | DLAT |
977 | Pyruvate dehydrogenase lipoic acid synthetase deficiency |
978 | LIAS |
979 | Pyruvate dehydrogenase phosphatase deficiency |
980 | PDP1 |
981 | Pyruvate kinase deficiency with hemolytic anemia |
982 | PKLR |
983 | Refsum disease |
984 | PEX7 |
985 | Refsum disease |
986 | PHYH |
987 | Riboflavin deficiency |
988 | SLC52A1 |
989 | Ribose 5-phosphate isomerase deficiency |
990 | RPIA |
991 | Rickets, vitamin D 25-hydroxylation-deficient, type 1B |
992 | CYP2R1 |
993 | Rickets, vitamin D dependent, type 1 |
994 | CYP27B1 |
995 | Saccharopinuria |
996 | AASS |
997 | Sandhoff disease |
998 | HEXB |
999 | Sarcosinemia |
1000 | SARDH |
1001 | Scheie syndrome |
1002 | IDUA |
1003 | Schindler disease |
1004 | NAGA |
1005 | Serine hydrolase deficiency, SERHL2 related |
1006 | SERHL2 |
1007 | Succinic semialdehyde dehydrogenase deficiency |
1008 | ALDH5A1 |
1009 | Succinyl CoA:3-oxoacid CoA transferase deficiency |
1010 | OXCT1 |
1011 | Sucrase-isomaltase deficiency |
1012 | SI |
1013 | Sulfatase deficiency |
1014 | SUMF1 |
1015 | Sulfite oxidase deficiency |
1016 | SUOX |
1017 | Surfactant metabolism dysfunction |
1018 | SFTPD |
1019 | Surfactant metabolism dysfunction type 1 |
1020 | SFTPB |
1021 | Surfactant metabolism dysfunction type 2 |
1022 | SFTPC |
1023 | Surfactant metabolism dysfunction type 3 |
1024 | ABCA3 |
1025 | Surfactant metabolism dysfunction type 4 |
1026 | CSF2RA |
1027 | Surfactant metabolism dysfunction type 5 |
1028 | CSF2RB |
1029 | Tangier disease |
1030 | ABCA1 |
1031 | Tay-Sachs disease |
1032 | HEXA |
1033 | Tay-Sachs disease AB variant |
1034 | GM2A |
1035 | Thiamine metabolism dysfunction syndrome type 5 |
1036 | TPK1 |
1037 | TJP1 deficiency |
1038 | TJP1 |
1039 | TPMT deficiency |
1040 | TPMT |
1041 | Transaldolase deficiency |
1042 | TALDO1 |
1043 | Transcobalamin II deficiency |
1044 | TCN2 |
1045 | Trifunctional protein deficiency |
1046 | HADHA |
1047 | Trimethylaminuria |
1048 | FMO3 |
1049 | Triosephosphate isomerase deficiency |
1050 | TPI1 |
1051 | Tumoral calcinosis, hyperphosphatemic, familial, type 1 |
1052 | GALNT3 |
1053 | Tyrosine kinase 2 deficiency |
1054 | TYK2 |
1055 | Tyrosinemia type 1 |
1056 | FAH |
1057 | Tyrosinemia type 1B |
1058 | GSTZ1 |
1059 | Tyrosinemia type 2 |
1060 | TAT |
1061 | Tyrosinemia type 3 |
1062 | HPD |
1063 | Urbach-Wiethe disease |
1064 | ECM1 |
1065 | Von-Gierke disease |
1066 | G6PC |
1067 | Wilson disease |
1068 | ATP7B |
1069 | Wolman disease |
1070 | LIPA |
1071 | Xanthinuria type 1 |
1072 | XDH |
1073 | Xanthinuria type 2 |
1074 | MOCOS |
No. | Description |
---|---|
1 | Angioedema, hereditary |
2 | SERPING1 |
3 | Antithrombin III deficiency |
4 | SERPINC1 |
5 | Aortic aneurysm, familial thoracic type 3 |
6 | TGFBR2 |
7 | Aortic aneurysm, familial thoracic type 4 |
8 | MYH11 |
9 | Aortic aneurysm, familial thoracic type 5 |
10 | TGFBR1 |
11 | Aortic aneurysm, familial thoracic type 6 |
12 | ACTA2 |
13 | Aortic aneurysm, familial thoracic type 7 |
14 | MYLK |
15 | Aortic aneurysm, familial thoracic type 8 |
16 | PRKG1 |
17 | Aortic aneurysm, familial thoracic, MAT2A related |
18 | MAT2A |
19 | Aortic valve disease type 1 |
20 | NOTCH1 |
21 | Aortic valve disease type 2 |
22 | SMAD6 |
23 | Arterial calcification type 1, generalized, infantile |
24 | ENPP1 |
25 | Arterial calcification type 2, generalized, infantile |
26 | ABCC6 |
27 | Arterial Tortuosity Syndrome |
28 | SLC2A10 |
29 | Atherosclerosis, SOAT1 related |
30 | SOAT1 |
31 | Bernard Soulier syndrome type A1 |
32 | GP1BA |
33 | Bernard Soulier syndrome type A2 |
34 | GP1BA |
35 | Bernard Soulier syndrome type B |
36 | GP1BB |
37 | Bernard Soulier syndrome type C |
38 | GP9 |
39 | CADASIL |
40 | NOTCH3 |
41 | Capillary malformation-arteriovenous malformation |
42 | RASA1 |
43 | CARASIL |
44 | HTRA1 |
45 | Carotid intimal medial thickness type 1 |
46 | PPARG |
47 | Cerebral cavernous malformations type 1 |
48 | KRIT1 |
49 | Cerebral cavernous malformations type 2 |
50 | CCM2 |
51 | Cerebral cavernous malformations type 3 |
52 | PDCD10 |
53 | Coarctation of the aorta |
54 | MCTP2 |
55 | Coronary artery disease in familial hypercholesterolemia, protection against |
56 | ABCA1 |
57 | Fabry disease |
58 | GLA |
59 | Factor II deficiency |
60 | F2 |
61 | Factor VII deficiency |
62 | F7 |
63 | Glycoprotein Ia C807T polymorphism |
64 | ITGA2 |
65 | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts |
66 | JAM3 |
67 | Homocystinuria |
68 | MTHFR |
69 | Homocystinuria due to cystathionine beta-synthase deficiency |
70 | CBS |
71 | Homocystinuria-megaloblastic anemia, cbl E type |
72 | MTRR |
73 | Hypertension early onset |
74 | NR3C2 |
75 | Hypertension, ADD2 related |
76 | ADD2 |
77 | Hypertension, salt-sensitive essential, susceptibility to |
78 | CYP3A5 |
79 | Hypertension, susceptibility to |
80 | NOS2 |
81 | Loeys-Dietz syndrome type 4 |
82 | TGFB2 |
83 | Moyamoya disease type 2, susceptibility to |
84 | RNF213 |
85 | Moyamoya type 6 with achalasia |
86 | GUCY1A3 |
87 | Myoglobinuria acute recurrent |
88 | LPIN1 |
89 | Myopathy with lactic acidosis hereditary |
90 | ISCU |
91 | Orthostatic intolerance |
92 | SLC6A2 |
93 | Parkes Weber syndrome |
94 | RASA1 |
95 | Plasminogen activator inhibitor type 1 |
96 | SERPINE1 |
97 | Polyarteritis nodosa, childhood-onset |
98 | ADA2 |
99 | Protein C Deficiency, AD |
100 | PROC |
101 | Protein S Deficiency, autosomal dominant |
102 | PROS1 |
103 | Pseudohypoaldosteronism type 2D |
104 | KLHL3 |
105 | Pseudohypoaldosteronism type 2E |
106 | CUL3 |
107 | Pulmonary hypertension, primary type |
108 | BMPR2 |
109 | Pulmonary venoocclusive disease type 1 |
110 | BMPR2 |
111 | Sneddon syndrome |
112 | ADA2 |
113 | Stormorken syndrome |
114 | STIM1 |
115 | Supravalvar aortic stenosis |
116 | ELN |
117 | Thrombophilia due to thrombin defect |
118 | F2 |
119 | Transposition of the great arteries, dextro-looped 1 |
120 | MED13L |
121 | Vascular system defects due to CALCRL deficiency |
122 | CALCRL |
123 | Vascular system defects due to GNA13 deficiency |
124 | GNA13 |
No. | Description |
---|---|
1 | Achondrogenesis type 2 |
2 | COL2A1 |
3 | Acrodysostosis type 1, with or without hormone resistance |
4 | PRKAR1A |
5 | Acromelic frontonasal dysostosis |
6 | ZSWIM6 |
7 | Acromesomelic dysplasia, Maroteaux type |
8 | NPR2 |
9 | Acromicric dysplasia |
10 | FBN1 |
11 | Adams-Oliver syndrome type 6 |
12 | DLL4 |
13 | ADULT syndrome, split hand-foot malformation |
14 | TP63 |
15 | Alacrima, achalasia and mental retardation syndrome |
16 | GMPPA |
17 | Alagille syndrome type 1 |
18 | JAG1 |
19 | Alagille syndrome type 2 |
20 | NOTCH2 |
21 | Alazami syndrome |
22 | LARP7 |
23 | Alpha-thalassemia/mental retardation syndrome |
24 | ATRX |
25 | Ankyloblepharon-ectodermal defects-cleft lip/palate |
26 | TP63 |
27 | Anterior segment mesenchymal dysgenesis |
28 | PITX3 |
29 | Antley-Bixler syndrome |
30 | FGFR2 |
31 | Apert syndrome |
32 | FGFR2 |
33 | Athabaskan brainstem dysgenesis syndrome |
34 | HOXA1 |
35 | Atrial septal defect type 2 |
36 | GATA4 |
37 | Atrial septal defect with atrioventricular conduction defects |
38 | NKX2-5 |
39 | Atrioventricular septal defect, partial with heterotaxy syndrome |
40 | CRELD1 |
41 | Auriculocondylar syndrome type 1 |
42 | GNAI3 |
43 | Auriculocondylar syndrome type 2 |
44 | PLCB4 |
45 | Axenfeld-Rieger syndrome type 1 |
46 | PITX2 |
47 | Axenfeld-Rieger syndrome type 3 |
48 | FOXC1 |
49 | Bainbridge-Ropers syndrome |
50 | ASXL3 |
51 | Band-like calcification with simplified gyration and polymicrogyria |
52 | OCLN |
53 | Baraitser-Winter syndrome type 1 |
54 | ACTB |
55 | Baraitser-Winter syndrome type 2 |
56 | ACTG1 |
57 | Basal cell nevus syndrome |
58 | PTCH1 |
59 | Basal cell nevus syndrome |
60 | SUFU |
61 | Basal ganglia calcification type 1, ideopathic |
62 | SLC20A2 |
63 | Basal ganglia calcification type 4 |
64 | PDGFRB |
65 | Basal ganglia calcification type 5, idiopathic |
66 | PDGFB |
67 | Basal ganglia calcification type 6, idiopathic |
68 | XPR1 |
69 | Beta-ureidopropionase deficiency |
70 | UPB1 |
71 | Bifid nose |
72 | FREM1 |
73 | Birt-Hogg-Dube syndrome |
74 | FLCN |
75 | Bjornstad syndrome |
76 | BCS1L |
77 | Blau syndrome |
78 | NOD2 |
79 | Bohring-Opitz syndrome |
80 | ASXL1 |
81 | Bone marrow failure syndrome type 2 |
82 | ERCC6L2 |
83 | Brachydactyly type A1C |
84 | GDF5 |
85 | Brachydactyly type A2 |
86 | BMP2 |
87 | Brachydactyly type A2 |
88 | BMPR1B |
89 | Brachydactyly type B1 |
90 | ROR2 |
91 | Brachydactyly type E1 |
92 | HOXD13 |
93 | Brachydactyly-mental retardation syndrome |
94 | HDAC4 |
95 | Brachydactyly-syndactyly syndrome |
96 | HOXD13 |
97 | Branchiooculofacial syndrome |
98 | TFAP2A |
99 | C syndrome |
100 | CD96 |
101 | Campomelic dysplasia |
102 | SOX9 |
103 | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
104 | PRG4 |
105 | Camurati-Engelmann disease |
106 | TGFB1 |
107 | Cantu syndrome |
108 | ABCC9 |
109 | Carpenter syndrome |
110 | RAB23 |
111 | Carpenter syndrome type 2 |
112 | MEGF8 |
113 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia |
114 | IARS2 |
115 | Caudal regression syndrome |
116 | VANGL1 |
117 | Central hypoventilation syndrome with or without Hirschsprung disease |
118 | PHOX2B |
119 | Central hypoventilation syndrome, congenital |
120 | ASCL1 |
121 | Central hypoventilation syndrome, congenital |
122 | BDNF |
123 | Central hypoventilation syndrome, congenital |
124 | ECE1 |
125 | Central hypoventilation syndrome, congenital |
126 | EDN3 |
127 | Central hypoventilation syndrome, congenital |
128 | GDNF |
129 | Central hypoventilation syndrome, congenital |
130 | GFRA1 |
131 | Central hypoventilation syndrome, congenital |
132 | MECP2 |
133 | Central hypoventilation syndrome, congenital |
134 | PHOX2A |
135 | Central hypoventilation syndrome, congenital |
136 | RET |
137 | Central hypoventilation syndrome, congenital |
138 | ZEB2 |
139 | Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome |
140 | SNAP29 |
141 | Cerebrooculofacioskeletal syndrome type 1 |
142 | ERCC6 |
143 | Cerebrooculofacioskeletal syndrome type 4 |
144 | ERCC1 |
145 | Char syndrome |
146 | TFAP2B |
147 | CHARGE syndrome |
148 | CHD7 |
149 | CHIME syndrome |
150 | PIGL |
151 | Chondrodysplasia with joint dislocations, GPAPP type |
152 | IMPAD1 |
153 | Chondrodysplasia, Blomstrand type |
154 | PTH1R |
155 | Choroideremia |
156 | CHM |
157 | Chrondrodysplasia, acromesomelic, with genital anomalies |
158 | BMPR1B |
159 | Chudley-McCullough syndrome |
160 | GPSM2 |
161 | Cleft palate, cardiac defects, and mental retardation |
162 | MEIS2 |
163 | Club foot |
164 | PITX1 |
165 | Cockayne syndrome type A |
166 | ERCC8 |
167 | Cockayne syndrome type B |
168 | ERCC6 |
169 | CODAS syndrome |
170 | LONP1 |
171 | Coffin-Siris syndrome, SMARCE1 related |
172 | SMARCE1 |
173 | Cold-induced sweating syndrome |
174 | CRLF1 |
175 | Cold-induced sweating syndrome type 2 |
176 | CLCF1 |
177 | Congenital heart defects and ectodermal dysplasia |
178 | PRKD1 |
179 | Congenital heart disease and transposition of the great arteries |
180 | FOXH1 |
181 | Congenital short-bowel syndrome |
182 | CLMP |
183 | Corpus callosum, agenesis of, with abnormal genitalia |
184 | ARX |
185 | Cortical malformations, occipital |
186 | LAMC3 |
187 | Costello syndrome |
188 | HRAS |
189 | Cousin syndrome |
190 | TBX15 |
191 | Craniodiaphyseal dysplasia, autosomal dominant |
192 | SOST |
193 | Cranioectodermal dysplasia type 1 |
194 | IFT122 |
195 | Cranioectodermal dysplasia type 2 |
196 | WDR35 |
197 | Cranioectodermal dysplasia type 3 |
198 | IFT43 |
199 | Cranioectodermal dysplasia type 4 |
200 | WDR19 |
201 | Craniofacial and neuro-developmental abnormalities |
202 | DISP1 |
203 | Craniofacial and neuro-developmental abnormalities, JAG2 related |
204 | JAG2 |
205 | Craniofacial anomalies and anterior segment dysgenesis syndrome |
206 | VSX1 |
207 | Craniofrontonasal syndrome |
208 | EFNB1 |
209 | Craniometaphyseal dysplasia |
210 | ANKH |
211 | Craniosynostosis and dental anomalies |
212 | IL11RA |
213 | Craniosynostosis type 1 |
214 | TWIST1 |
215 | Craniosynostosis type 2 |
216 | MSX2 |
217 | Craniosynostosis type 3 |
218 | TCF12 |
219 | Craniosynostosis type 4 |
220 | ERF |
221 | Craniosynostosis type 6 |
222 | ZIC1 |
223 | Craniosynostosis, FGFR1 related |
224 | FGFR1 |
225 | Craniosynostosis, nonspecific |
226 | FGFR2 |
227 | Crouzon syndrome |
228 | FGFR2 |
229 | Currarino syndrome |
230 | MNX1 |
231 | Czech dysplasia |
232 | COL2A1 |
233 | D-bifunctional protein deficiency |
234 | HSD17B4 |
235 | Dandy-Walker malformation and occipital cephaloceles, LAMC1 related |
236 | LAMC1 |
237 | De Sanctis-Cacchione syndrome |
238 | ERCC6 |
239 | Desanto-Shinawi syndrome |
240 | WAC |
241 | Desbuquois dysplasia type 1 |
242 | CANT1 |
243 | Desbuquois dysplasia type 2 |
244 | XYLT1 |
245 | Desmosterolosis |
246 | DHCR24 |
247 | Diamond Blackfan anemia type 15 with mandibulofacial dysostosis |
248 | RPS28 |
249 | Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis |
250 | TSR2 |
251 | DiGeorge syndrome |
252 | TBX1 |
253 | Donnai-Barrow syndrome |
254 | LRP2 |
255 | DOOR syndrome |
256 | TBC1D24 |
257 | Duane Retraction syndrome |
258 | SALL4 |
259 | Dysmorphism, HMG20B related |
260 | HMG20B |
261 | Ectodactyly, ectodermal dysplasia, and cleft lip/palate syndrome type 3 |
262 | TP63 |
263 | Ellis-van Creveld syndrome |
264 | EVC |
265 | Ellis-van Creveld syndrome |
266 | EVC2 |
267 | Epiphyseal dysplasia, multiple, with myopia and deafness |
268 | COL2A1 |
269 | Faciogenital dysplasia |
270 | FGD1 |
271 | Fanconi anemia, complementation group Q |
272 | ERCC4 |
273 | Feingold syndrome |
274 | MYCN |
275 | Fetal akinesia deformation sequence |
276 | DOK7 |
277 | Fetal akinesia deformation sequence |
278 | RAPSN |
279 | Fibrochondrogenesis type 1 |
280 | COL11A1 |
281 | Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly |
282 | WNT7A |
283 | FILS syndrome |
284 | POLE |
285 | Fraser syndrome |
286 | FRAS1 |
287 | Fraser syndrome |
288 | FREM2 |
289 | Fraser syndrome |
290 | GRIP1 |
291 | Frontonasal dysplasia type 1 |
292 | ALX3 |
293 | Frontonasal dysplasia type 2 |
294 | ALX4 |
295 | Fumarase deficiency |
296 | FH |
297 | Galloway-Mowat syndrome |
298 | WDR73 |
299 | Geleophysic dysplasia type 2 |
300 | FBN1 |
301 | Genitopatellar syndrome |
302 | KAT6B |
303 | Glass syndrome |
304 | SATB2 |
305 | Goldberg-Shprintzen megacolon syndrome |
306 | KIF1BP |
307 | GRACILE syndrome |
308 | BCS1L |
309 | Greenberg skeletal dysplasia |
310 | LBR |
311 | Greig cephalopolysyndactyly syndrome |
312 | GLI3 |
313 | Growth hormone insensitivity, partial |
314 | GHR |
315 | Growth retardation with deafness and mental retardation due to IGF1 deficiency |
316 | IGF1 |
317 | Growth retardation, developmental delay, facial dysmorphism |
318 | FTO |
319 | Guttmacher syndrome |
320 | HOXA13 |
321 | Hamamy syndrome |
322 | IRX5 |
323 | Hand-foot-uterus syndrome |
324 | HOXA13 |
325 | Hartsfield syndrome |
326 | FGFR1 |
327 | Heart-hand syndrome, Slovenian type |
328 | LMNA |
329 | Helsmoortel-van der Aa syndrome |
330 | ADNP |
331 | Hennekam lymphangiectasia-lymphedema syndrome type 2 |
332 | FAT4 |
333 | Heterotaxy, visceral type 1 |
334 | ZIC3 |
335 | Heterotaxy, visceral type 2 |
336 | CFC1 |
337 | Heterotaxy, visceral type 4 |
338 | ACVR2B |
339 | Heterotaxy, visceral type 5 |
340 | NODAL |
341 | Heterotaxy, visceral type 6 |
342 | CFAP53 |
343 | Heterotaxy, visceral type 7 |
344 | MMP21 |
345 | Heterotaxy, visceral type 8, autosomal |
346 | PKD1L1 |
347 | Heterotaxy, visceral, BCL9L related |
348 | BCL9L |
349 | Hirschsprung disease |
350 | ECE1 |
351 | Hirschsprung disease |
352 | EDN3 |
353 | Hirschsprung disease |
354 | EDNRB |
355 | Hirschsprung disease |
356 | KIF1BP |
357 | Hirschsprung disease |
358 | NRG1 |
359 | Hirschsprung disease |
360 | NRTN |
361 | Hirschsprung disease |
362 | RET |
363 | Hirschsprung disease |
364 | ZEB2 |
365 | Hirschsprung disease, type 3, susceptibility to |
366 | GDNF |
367 | Holoprosencephaly type 11 |
368 | CDON |
369 | Holoprosencephaly type 2 |
370 | SIX3 |
371 | Holoprosencephaly type 3 |
372 | SHH |
373 | Holoprosencephaly type 4 |
374 | TGIF1 |
375 | Holoprosencephaly type 5 |
376 | ZIC2 |
377 | Holoprosencephaly-type 9 |
378 | GLI2 |
379 | Holt-Oram syndrome |
380 | TBX5 |
381 | Hutchinson-Gilford progeria |
382 | LMNA |
383 | Hydranencephaly, Fowler type |
384 | FLVCR2 |
385 | Hydrolethalus syndrome |
386 | HYLS1 |
387 | Hypermethioninemia due to adenosine kinase deficiency |
388 | ADK |
389 | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
390 | AHCY |
391 | Hyperphosphatasia with mental retardation syndrome type 1 |
392 | PIGV |
393 | Hyperphosphatasia with mental retardation syndrome type 2 |
394 | PIGO |
395 | Hyperphosphatasia with mental retardation syndrome type 3 |
396 | PGAP2 |
397 | Hyperphosphatasia with mental retardation syndrome type 4 |
398 | PGAP3 |
399 | Hyperphosphatasia with mental retardation syndrome type 5 |
400 | PIGW |
401 | Hypogonadism, alopecia, Diabetes mellitus, mental retardation and extrapyramidal syndrome |
402 | DCAF17 |
403 | Hypogonadotropic hypogonadism type 6 with or without anosmia |
404 | FGF8 |
405 | Hypospadias type 1, X-linked |
406 | AR |
407 | Hypospadias type 2, X-linked |
408 | MAMLD1 |
409 | IMAGE syndrome |
410 | CDKN1C |
411 | Immunodeficiency-centromeric instability-facial anomalies syndrome type 2 |
412 | ZBTB24 |
413 | Intestinal atresia, multiple |
414 | TTC7A |
415 | IVIC syndrome |
416 | SALL4 |
417 | Jackson-Weiss syndrome |
418 | FGFR1 |
419 | Jackson-Weiss syndrome |
420 | FGFR2 |
421 | Jawad syndrome |
422 | RBBP8 |
423 | Kabuki syndrome type 1 |
424 | KMT2D |
425 | Kabuki syndrome type 2 |
426 | KDM6A |
427 | Kagami-Ogata syndrome |
428 | paternal UPD chr. 14 |
429 | Kallmann syndrome type 2 |
430 | FGFR1 |
431 | Kallmann syndrome type 4 |
432 | PROK2 |
433 | Kallmann syndrome type 5 |
434 | CHD7 |
435 | KBG syndrome |
436 | ANKRD11 |
437 | Keutel syndrome |
438 | MGP |
439 | Kleefstra syndrome |
440 | EHMT1 |
441 | Klippel-Feil syndrome type 1, autosomal dominant |
442 | GDF6 |
443 | Klippel-Feil syndrome type 2, autosomal dominant |
444 | MEOX1 |
445 | Klippel-Feil syndrome type 3, autosomal dominant |
446 | GDF3 |
447 | Klippel-Feil syndrome type 4, autosomal dominant, with myopathy and facial dysmorphism |
448 | MYO18B |
449 | Kniest dysplasia |
450 | COL2A1 |
451 | Koolen syndrome |
452 | KANSL1 |
453 | LADD syndrome |
454 | FGF10 |
455 | LADD syndrome |
456 | FGFR2 |
457 | Langer-Giedion syndrome |
458 | EXT1 |
459 | Langer-Giedion syndrome |
460 | TRPS1 |
461 | Larsen syndrome |
462 | FLNB |
463 | Left-right axis malformations |
464 | LEFTY2 |
465 | Legionnaire disease, susceptibility to |
466 | TLR5 |
467 | Lenz-Majewski hyperostotic dwarfism |
468 | PTDSS1 |
469 | LEOPARD syndrome type 3 |
470 | BRAF |
471 | Lethal congenital contracture syndrome type 1 |
472 | GLE1 |
473 | Lethal congenital contracture syndrome type 4 |
474 | MYBPC1 |
475 | Limb-mammary syndrome |
476 | TP63 |
477 | Lissencephaly type 1 |
478 | PAFAH1B1 |
479 | Lissencephaly type 2 (Norman-Roberts type) |
480 | RELN |
481 | Lissencephaly type 3 |
482 | TUBA1A |
483 | Lissencephaly type 5 |
484 | LAMB1 |
485 | Lissencephaly, X-linked type 1 |
486 | DCX |
487 | Lissencephaly, X-linked type 2 |
488 | ARX |
489 | Lujan-Fryns syndrome |
490 | MED12 |
491 | Lymphedema-distichiasis syndrome |
492 | FOXC2 |
493 | Macrocephaly, alopecia, cutis laxa, and scoliosis |
494 | RIN2 |
495 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome |
496 | POLD1 |
497 | Mandibuloacral dysplasia |
498 | LMNA |
499 | Mandibulofacial dysostosis with microcephaly |
500 | EFTUD2 |
501 | Marden-Walker syndrome |
502 | PIEZO2 |
503 | Marfan lipodystrophy syndrome |
504 | FBN1 |
505 | Marfan syndrome |
506 | FBN1 |
507 | Martsolf syndrome |
508 | RAB3GAP2 |
509 | MASS syndrome |
510 | FBN1 |
511 | McLeod syndrome with or without chronic granulomatous disease |
512 | XK |
513 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome |
514 | PIK3R2 |
515 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2 |
516 | AKT3 |
517 | Meier-Gorlin syndrome type 1 |
518 | ORC1 |
519 | Meier-Gorlin syndrome type 2 |
520 | ORC4 |
521 | Meier-Gorlin syndrome type 4 |
522 | CDT1 |
523 | Mental retardation and distinctive facial features with or without cardiac defects |
524 | MED13L |
525 | Mental retardation, autosomal dominant type 13 |
526 | DYNC1H1 |
527 | Mental retardation, truncal obesity, retinal dystrophy, and micropenis |
528 | INPP5E |
529 | Mental retardation, X-linked syndromic, Turner type |
530 | HUWE1 |
531 | Metaphyseal anadysplasia type 1 |
532 | MMP13 |
533 | Metaphyseal anadysplasia type 2 |
534 | MMP9 |
535 | Microcephalic osteodysplastic primordial dwarfism type 2 |
536 | PCNT |
537 | Microcephaly and chorioretinopathy with or without mental retardation |
538 | TUBGCP6 |
539 | Microcephaly with cortical malformations, autosomal recessive type 2 |
540 | WDR62 |
541 | Microcephaly with epilepsy and diabetes syndrome |
542 | IER3IP1 |
543 | Microcephaly with or without chorioretinopathy, Lymphedema, or Mental retardation, MCLMR |
544 | KIF11 |
545 | Microcephaly with symplified gyral pattern and insulin-dependant diabetes |
546 | GFM2 |
547 | Microcephaly, Amish type |
548 | SLC25A19 |
549 | Microcephaly, AP4M1 related |
550 | AP4M1 |
551 | Microcephaly, autosomal recessive type 1 |
552 | MCPH1 |
553 | Microcephaly, autosomal recessive type 11 |
554 | PHC1 |
555 | Microcephaly, autosomal recessive type 12 |
556 | CDK6 |
557 | Microcephaly, autosomal recessive type 13 |
558 | CENPE |
559 | Microcephaly, autosomal recessive type 3 |
560 | CDK5RAP2 |
561 | Microcephaly, autosomal recessive type 4 |
562 | KNL1 |
563 | Microcephaly, autosomal recessive type 5 |
564 | ASPM |
565 | Microcephaly, autosomal recessive type 6 |
566 | CENPJ |
567 | Microcephaly, autosomal recessive type 7 |
568 | STIL |
569 | Microcephaly, autosomal recessive type 8 |
570 | CEP135 |
571 | Microcephaly, autosomal recessive type 9 |
572 | CEP152 |
573 | Microcephaly, CEP63 related |
574 | CEP63 |
575 | Microcephaly, MRE11A related |
576 | MRE11 |
577 | Microcephaly, MSMO1 related |
578 | MSMO1 |
579 | Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy |
580 | QARS1 |
581 | Microcephaly, short stature, and polymicrogyria with seizures |
582 | RTTN |
583 | Microcephaly, TUBB2B related |
584 | TUBB2B |
585 | Miller Dieker lissencephaly syndrome |
586 | YWHAE |
587 | Mitochondrial complex III deficiency, nuclear type 7 |
588 | UQCC2 |
589 | Mitochondrial myopathy and sideroblastic anemia type 1 |
590 | PUS1 |
591 | Mosaic variegated aneuploidy syndrome type 2 |
592 | CEP57 |
593 | Mulibrey nanism |
594 | TRIM37 |
595 | Multiple congenital anomalies-hypotonia-seizures syndrome type 1 |
596 | PIGN |
597 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects |
598 | B3GAT3 |
599 | Myhre syndrome |
600 | SMAD4 |
601 | Native American myopathy |
602 | STAC3 |
603 | Neuroaxonal neurodegeneration, infantile, with facial dysmophism |
604 | NALCN |
605 | Neuroblastoma type 3, susceptibility to, familial |
606 | ALK |
607 | Nicolaides Baraitser syndrome |
608 | SMARCA2 |
609 | Nijmegen breakage syndrome |
610 | NBN |
611 | Noonan syndrom like |
612 | SHOC2 |
613 | Noonan syndrome type 1 |
614 | PTPN11 |
615 | Noonan syndrome type 10 |
616 | LZTR1 |
617 | Noonan syndrome type 3 |
618 | KRAS |
619 | Noonan syndrome type 4 |
620 | SOS1 |
621 | Noonan syndrome type 5 |
622 | RAF1 |
623 | Noonan syndrome type 6 |
624 | NRAS |
625 | Noonan syndrome type 7 |
626 | BRAF |
627 | Noonan syndrome type 8 |
628 | RIT1 |
629 | Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia |
630 | CBL |
631 | Oculodentodigital dysplasia |
632 | GJA1 |
633 | Ogden syndrome |
634 | NAA10 |
635 | Olmsted syndrome |
636 | TRPV3 |
637 | Opitz-Kaveggia syndrome |
638 | MED12 |
639 | Orofacial cleft type 10 |
640 | SUMO1 |
641 | Orofacial cleft type 11 |
642 | BMP4 |
643 | Orofacial cleft type 5 |
644 | MSX1 |
645 | Orofacial cleft type 6 |
646 | IRF6 |
647 | Orofacial cleft type 7 |
648 | NECTIN1 |
649 | Orofaciodigital syndrome type 14 |
650 | C2CD3 |
651 | Orofaciodigital syndrome type 4 |
652 | TCTN3 |
653 | Orofaciodigital syndrome type 5 |
654 | DDX59 |
655 | Orofaciodigital syndrome type 6 |
656 | CPLANE1 |
657 | Osteoglophonic dysplasia |
658 | FGFR1 |
659 | Otofaciocervical syndrome |
660 | EYA1 |
661 | Otospondylomegaepiphyseal dysplasia |
662 | COL11A2 |
663 | Otospondylomegaepiphyseal dysplasia |
664 | COL2A1 |
665 | Pallister-Hall syndrome |
666 | GLI3 |
667 | Papillorenal syndrome |
668 | PAX2 |
669 | Parietal foramina type 1 |
670 | MSX2 |
671 | Pelger-Huet anomaly |
672 | LBR |
673 | Pelvic organ prolapse, LAMC1 related |
674 | LAMC1 |
675 | Perlman Syndrome |
676 | DIS3L2 |
677 | Pfeiffer syndrome |
678 | FGFR1 |
679 | Pfeiffer syndrome |
680 | FGFR2 |
681 | Phelan-McDermid syndrome |
682 | chr. 22q13.3 |
683 | Pitt-Hopkins syndrome |
684 | NRXN1 |
685 | Pitt-Hopkins syndrome |
686 | TCF4 |
687 | Pituitary hormone deficiency type 1 |
688 | POU1F1 |
689 | Pituitary hormone deficiency type 2 |
690 | PROP1 |
691 | Platyspondylic skeletal dysplasia, Torrance type |
692 | COL2A1 |
693 | Polyhydramnios, megalencephaly, and symptomatic epilepsy |
694 | STRADA |
695 | Polymicrogyria asymmetric |
696 | TUBB2B |
697 | Polymicrogyria bilateral frontoparietal |
698 | ADGRG1 |
699 | Polymicrogyria bilateral occipital |
700 | NR2E1 |
701 | Polymicrogyria with optic nerve hypoplasia |
702 | TUBA8 |
703 | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis |
704 | PI4KA |
705 | Popliteal pterygium syndrome type 1 |
706 | IRF6 |
707 | Popliteal pterygium syndrome, lethal type |
708 | RIPK4 |
709 | Porencephaly, familial |
710 | COL4A1 |
711 | Poretti-Boltshauser syndrome |
712 | LAMA1 |
713 | Postaxial acrofacial dysostosis |
714 | DHODH |
715 | Prolidase deficiency |
716 | PEPD |
717 | Prune belly syndrome |
718 | CHRM3 |
719 | Rapp-Hodgkin syndrome |
720 | TP63 |
721 | Retinal dystrophy, juvenile cataracts, and short stature syndrome |
722 | RDH11 |
723 | Rett syndrome |
724 | MECP2 |
725 | Rett syndrome, congenital variant |
726 | FOXG1 |
727 | Rhizomelic chondrodysplasia punctata type 2 |
728 | GNPAT |
729 | Rhizomelic chondrodysplasia punctata type 3 |
730 | AGPS |
731 | Rhizomelic chondrodysplasia punctata type 5 |
732 | PEX5 |
733 | Ritscher-Schinzel syndrome type 1 |
734 | WASHC5 |
735 | RNA processing related disorders |
736 | HNRNPU |
737 | Roberts syndrome |
738 | ESCO2 |
739 | Robinow syndrome, autosomal dominant type 1 |
740 | WNT5A |
741 | Robinow syndrome, autosomal dominant type 2 |
742 | DVL1 |
743 | Robinow syndrome, autosomal recessive |
744 | ROR2 |
745 | Robinow-Sorauf syndrome |
746 | TWIST1 |
747 | Rubinstein-Taybi syndrome |
748 | CREBBP |
749 | Rubinstein-Taybi syndrome |
750 | EP300 |
751 | Saethre-Chotzen syndrome |
752 | FGFR2 |
753 | Saethre-Chotzen syndrome |
754 | TWIST1 |
755 | SC Phocomelia syndrome |
756 | ESCO2 |
757 | Scaphocephaly, maxillary retrusion, and mental retardation |
758 | FGFR2 |
759 | Schaaf-Yang syndrome |
760 | MAGEL2 |
761 | Schinzel-Giedion midface retraction syndrome |
762 | SETBP1 |
763 | Schizencephaly |
764 | EMX2 |
765 | Schneckenbecken dysplasia |
766 | SLC35D1 |
767 | Sclerosteosis type 1 |
768 | SOST |
769 | Seckel syndrome |
770 | ATRIP |
771 | Seckel syndrome type 1 |
772 | ATR |
773 | Seckel syndrome type 2 |
774 | RBBP8 |
775 | Seckel syndrome type 4 |
776 | CENPJ |
777 | Seckel syndrome type 5 |
778 | CEP152 |
779 | Seckel syndrome type 6 |
780 | CEP63 |
781 | Seckel syndrome type 7 |
782 | NIN |
783 | SED congenita |
784 | COL2A1 |
785 | Seizures, scoliosis, and macrocephaly syndrome |
786 | EXT2 |
787 | Septooptic dysplasia |
788 | HESX1 |
789 | SERKAL syndrome |
790 | WNT4 |
791 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation |
792 | NHEJ1 |
793 | Short stature syndrome |
794 | SHOX |
795 | Short stature, microcephaly, and endocrine dysfunction |
796 | XRCC4 |
797 | Short stature, optic nerve atrophy, and Pelger-Huet anomaly |
798 | NBAS |
799 | SHORT syndrome |
800 | PIK3R1 |
801 | Short-rib thoracic dysplasia type 10 with or without polydactyly |
802 | IFT172 |
803 | Short-rib thoracic dysplasia type 11 with or without polydactyly |
804 | WDR34 |
805 | Short-rib thoracic dysplasia type 2 with or without polydactyly |
806 | IFT80 |
807 | Short-rib thoracic dysplasia type 3 with or without polydactyly |
808 | DYNC2H1 |
809 | Short-rib thoracic dysplasia type 4 with or without polydactyly |
810 | TTC21B |
811 | Short-rib thoracic dysplasia type 5 with or without polydactyly |
812 | WDR19 |
813 | Short-rib thoracic dysplasia type 6 with or without polydactyly |
814 | NEK1 |
815 | Short-rib thoracic dysplasia type 7 with or without polydactyly |
816 | WDR35 |
817 | Short-rib thoracic dysplasia type 8 with or without polydactyly |
818 | WDR60 |
819 | Shprintzen-Goldberg syndrome |
820 | SKI |
821 | Silver-Russell syndrome |
822 | chr. 11p15 |
823 | Silver-Russell syndrome |
824 | maternal UPD chr. 7 |
825 | Skeletal abnormalities, CBFB related |
826 | CBFB |
827 | Skeletal defects, genital hypoplasia, and mental retardation |
828 | ZBTB16 |
829 | SMED Strudwick type |
830 | COL2A1 |
831 | Smith-Lemli-Opitz syndrome |
832 | DHCR7 |
833 | Sotos syndrome type 1 |
834 | NSD1 |
835 | Sotos-like syndrome |
836 | NFIX |
837 | Speech-language disorder type 1 |
838 | FOXP2 |
839 | Spina bifida folate sensitive |
840 | MTRR |
841 | Split-hand/foot malformation type 1 with sensorineural hearing loss |
842 | DLX5 |
843 | Split-hand/foot malformation type 6 |
844 | WNT10B |
845 | Spondylo-megaepiphyseal-metaphyseal dysplasia |
846 | NKX3-2 |
847 | Spondylocostal dysostosis type 5 |
848 | TBX6 |
849 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures |
850 | B3GALT6 |
851 | Spondyloperipheral dysplasia |
852 | COL2A1 |
853 | Stiff skin syndrome |
854 | FBN1 |
855 | Stuve-Wiedemann syndrome |
856 | LIFR |
857 | Syndactyly type 1 |
858 | HOXD13 |
859 | Syndactyly type 5 |
860 | HOXD13 |
861 | Syndactyly, mesoaxial synostotic, with phalangeal reduction |
862 | BHLHA9 |
863 | TANC2 related brain disorders |
864 | TANC2 |
865 | Tarp syndrome |
866 | RBM10 |
867 | Temple syndrome |
868 | maternal UPD chr. 14 |
869 | Temple-Baraitser syndrome |
870 | KCNH1 |
871 | Temtamy preaxial brachydactyly syndrome |
872 | CHSY1 |
873 | Temtamy syndrome |
874 | C12orf57 |
875 | Tetraamelia, autosomal recessive |
876 | WNT3 |
877 | Three M syndrome type 1 |
878 | CUL7 |
879 | Three M syndrome type 2 |
880 | OBSL1 |
881 | Three M syndrome type 3 |
882 | CCDC8 |
883 | Toe syndactyly, telecanthus, and anogenital and renal malformations |
884 | FAM58A |
885 | Tooth agenesis, selective type 1 |
886 | MSX1 |
887 | Tooth agenesis, selective type 3 |
888 | PAX9 |
889 | Townes-Brocks syndrome |
890 | SALL1 |
891 | Transposition of great arteries, dextro-looped 3 |
892 | GDF1 |
893 | Transposition of the great arteries, dextro-looped 1 |
894 | MED13L |
895 | Treacher Collins syndrome type 1 |
896 | TCOF1 |
897 | Treacher Collins syndrome type 2 |
898 | POLR1D |
899 | Treacher Collins syndrome type 3 |
900 | POLR1C |
901 | Trigonocephaly type 1 |
902 | FGFR1 |
903 | Ulna and fibula, absence of, with severe limb deficiency |
904 | WNT7A |
905 | Ulnar-Mammary syndrome |
906 | TBX3 |
907 | Urofacial syndrome |
908 | LRIG2 |
909 | Urofacial syndrome type 1 |
910 | HPSE2 |
911 | Van den Ende-Gupta syndrome |
912 | SCARF2 |
913 | van der Woude syndrome type 1 |
914 | IRF6 |
915 | van der Woude syndrome type 2 |
916 | GRHL3 |
917 | Van Maldergem syndrome type 2 |
918 | FAT4 |
919 | Vater association |
920 | HOXD13 |
921 | Vici syndrome |
922 | EPG5 |
923 | Visceral myopathy |
924 | ACTG2 |
925 | Warburg micro syndrome type 1 |
926 | RAB3GAP1 |
927 | Warburg micro syndrome type 2 |
928 | RAB3GAP2 |
929 | Warsaw breakage syndrome |
930 | DDX11 |
931 | Weaver syndrome |
932 | EZH2 |
933 | Webb-Dattani syndrome |
934 | ARNT2 |
935 | Weill-Marchesani syndrome type 3 |
936 | LTBP2 |
937 | Weill-Marchesani syndrome, dominant type 2 |
938 | FBN1 |
939 | Werner syndrome |
940 | WRN |
941 | Wiedemann-Steiner syndrome |
942 | KMT2A |
943 | Williams-Beuren syndrome |
944 | chr. 7q11.23 |
945 | Witkop syndrome |
946 | MSX1 |
947 | XFE progeroid syndrome |
948 | ERCC4 |
949 | ZIC5 related brain disorders |
950 | ZIC5 |
No. | Description |
---|---|
1 | 3MC syndrome type 1 |
2 | MASP1 |
3 | 3MC syndrome type 2 |
4 | COLEC11 |
5 | Achondrogenesis type 1A |
6 | TRIP11 |
7 | Achondrogenesis type 1B |
8 | SLC26A2 |
9 | Achondrogenesis type 2 |
10 | COL2A1 |
11 | Achondroplasia |
12 | FGFR3 |
13 | Acne inversa familial type 3 |
14 | PSEN1 |
15 | Acrodermatitis enteropathica |
16 | SLC39A4 |
17 | Acrodysostosis 2 |
18 | PDE4D |
19 | Acrofacial dysostosis 1, Nager type |
20 | SF3B4 |
21 | Acrokeratosis verruciformis |
22 | ATP2A2 |
23 | Adams-Oliver syndrome type 1 |
24 | ARHGAP31 |
25 | Adams-Oliver syndrome type 2 |
26 | DOCK6 |
27 | Adams-Oliver syndrome type 3 |
28 | RBPJ |
29 | Adams-Oliver syndrome type 4 |
30 | EOGT |
31 | Adermatoglyphia |
32 | SMARCAD1 |
33 | Albinism, oculocutaneous nonsyndromic |
34 | SLC24A5 |
35 | Albinism, oculocutaneous type 1A |
36 | TYR |
37 | Albinism, oculocutaneous type 1B |
38 | TYR |
39 | Albinism, oculocutaneous type 2 |
40 | OCA2 |
41 | Albinism, oculocutaneous type 3 |
42 | TYRP1 |
43 | Albinism, oculocutaneous type 4 |
44 | SLC45A2 |
45 | Albinism, oculocutaneous type 5 |
46 | LRMDA |
47 | Alopecia universalis |
48 | HR |
49 | Amelogenesis imperfecta type 1A |
50 | LAMB3 |
51 | Amelogenesis imperfecta type 1B |
52 | ENAM |
53 | Amelogenesis imperfecta type 1C |
54 | ENAM |
55 | Amelogenesis imperfecta type 1E |
56 | AMELX |
57 | Amelogenesis imperfecta type 1F |
58 | AMBN |
59 | Amelogenesis imperfecta type 1G |
60 | FAM20A |
61 | Amelogenesis imperfecta type 1H |
62 | ITGB6 |
63 | Amelogenesis imperfecta type 2A1 |
64 | KLK4 |
65 | Amelogenesis imperfecta type 2A2 |
66 | MMP20 |
67 | Amelogenesis imperfecta type 2A3 |
68 | WDR72 |
69 | Amelogenesis imperfecta type 2A4 |
70 | C4orf26 |
71 | Amelogenesis imperfecta type 2A5 |
72 | SLC24A4 |
73 | Amelogenesis imperfecta type 3 |
74 | FAM83H |
75 | Amelogenesis imperfecta type 4 |
76 | DLX3 |
77 | Amelotin deficiency |
78 | AMTN |
79 | Amyloidosis, primary localized cutaneous, type 1 |
80 | OSMR |
81 | Amyloidosis, primary localized cutaneous, type 2 |
82 | IL31RA |
83 | Arthrogryposis, distal, type 1A |
84 | TPM2 |
85 | Arthrogryposis, distal, type 1B |
86 | MYBPC1 |
87 | Arthrogryposis, distal, type 2A |
88 | MYH3 |
89 | Arthrogryposis, distal, type 2B |
90 | MYH3 |
91 | Arthrogryposis, distal, type 2B |
92 | TNNI2 |
93 | Arthrogryposis, distal, type 2B |
94 | TNNT3 |
95 | Arthrogryposis, distal, type 3 |
96 | PIEZO2 |
97 | Arthrogryposis, distal, type 5 |
98 | PIEZO2 |
99 | Arthrogryposis, distal, type 5D |
100 | ECEL1 |
101 | Arthrogryposis, distal, type 7 |
102 | MYH8 |
103 | Arthrogryposis, mental retardation, and seizures |
104 | SLC35A3 |
105 | Arthrogryposis, renal dysfunction, and cholestasis type 1 |
106 | VPS33B |
107 | Arthrogryposis, renal dysfunction, and cholestasis type 2 |
108 | VIPAS39 |
109 | Arthropathy, progressive pseudorheumatoid, of childhood |
110 | WISP3 |
111 | Atelosteogenesis type 1 |
112 | FLNB |
113 | Atelosteogenesis type 3 |
114 | FLNB |
115 | Atrichia with papular lesions |
116 | HR |
117 | Atypical Mycobacterial infection |
118 | IFNGR2 |
119 | Atypical Mycobacterial infection |
120 | IKBKG |
121 | Atypical Mycobacterial infection |
122 | IL12RB1 |
123 | Atypical Mycobacterial infection |
124 | STAT1 |
125 | Atypical Mycobacterial infection, IL12RB2 related |
126 | IL12RB2 |
127 | Autoimmune lymphoproliferative syndrome type 1A |
128 | FAS |
129 | Autoimmune lymphoproliferative syndrome type 1B |
130 | FASLG |
131 | Autoimmune lymphoproliferative syndrome type 2A |
132 | CASP10 |
133 | Autoimmune lymphoproliferative syndrome type 2B |
134 | CASP8 |
135 | Autoimmune lymphoproliferative syndrome type 3 |
136 | PRKCD |
137 | Autoimmune polyendocrinopathy syndrome type 1 |
138 | AIRE |
139 | Autoinflammation, lipodystroph and dermatosis syndrome |
140 | PSMB8 |
141 | Avascular necrosis of the femoral head, primary |
142 | COL2A1 |
143 | B-cell expansion with NFKB and T-cell anergy |
144 | CARD11 |
145 | Bare lymphocyte syndrome, type 2 |
146 | RFXANK |
147 | Bare lymphocyte syndrome, type 2, complementation group A |
148 | CIITA |
149 | Beare-Stevenson cutis gyrata syndrome |
150 | FGFR2 |
151 | Bent bone dysplasia syndrome |
152 | FGFR2 |
153 | Bone mineral density QTL18, osteoporosis |
154 | PLS3 |
155 | Buschke-Ollendorff syndrome |
156 | LEMD3 |
157 | C1q deficiency |
158 | C1QA |
159 | C2 deficiency |
160 | C2 |
161 | C3 deficiency |
162 | C3 |
163 | C5 deficiency |
164 | C5 |
165 | C7 deficiency |
166 | C7 |
167 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia |
168 | IARS2 |
169 | Chediak-Higashi syndrome |
170 | LYST |
171 | Choanal atresia and lymphedema |
172 | PTPN14 |
173 | Chondrocalcinosis type 2 |
174 | ANKH |
175 | Chondrodysplasia punctata, X-linked dominant |
176 | EBP |
177 | Chondrodysplasia punctata, X-linked recessive |
178 | ARSE |
179 | Chondrosarcoma, familial |
180 | EXT1 |
181 | Cleidocranial dysplasia |
182 | RUNX2 |
183 | Cold autoinflammatory syndrome type 2 |
184 | NLRP12 |
185 | Cold autoinflammatory syndrome type 4, familial |
186 | NLRC4 |
187 | Cole disease |
188 | ENPP1 |
189 | Cole-Carpenter syndrome type 1 |
190 | P4HB |
191 | Combined cellular and humoral immune defects with granulomas |
192 | RAG2 |
193 | Combined immunodeficiency, B cell-negative, T cell-negative, NK cell positive |
194 | RAG2 |
195 | Combined immunodeficiency, X-linked, moderate |
196 | IL2RG |
197 | Contractural arachnodactyly, congenital |
198 | FBN2 |
199 | Cornelia de Lange syndrome type 1 |
200 | NIPBL |
201 | Cornelia de Lange syndrome type 2 |
202 | SMC1A |
203 | Cornelia de Lange syndrome type 3 |
204 | SMC3 |
205 | Cornelia de Lange syndrome type 4 |
206 | RAD21 |
207 | Cornelia de Lange syndrome type 5 |
208 | HDAC8 |
209 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome |
210 | TMCO1 |
211 | Craniofacial-skeletal-dermatologic dysplasia |
212 | FGFR2 |
213 | Crouzon syndrome with acanthosis nigricans |
214 | FGFR3 |
215 | Cutaneous telangiectasia and cancer syndrome, familial |
216 | ATR |
217 | Cutis laxa type 1A, autosomal recessive |
218 | FBLN5 |
219 | Cutis laxa type 1B, autosomal recessive |
220 | EFEMP2 |
221 | Cutis laxa type 2, autosomal dominant |
222 | FBLN5 |
223 | Cutis laxa type 2A, autosomal recessive |
224 | ATP6V0A2 |
225 | Cutis laxa type 2B, autosomal recessive |
226 | PYCR1 |
227 | Cutis laxa type 3A, autosomal recessive |
228 | ALDH18A1 |
229 | Cutis laxa type 3B, autosomal recessive |
230 | PYCR1 |
231 | Cutis laxa, autosomal dominant |
232 | ELN |
233 | Czech dysplasia |
234 | COL2A1 |
235 | Dentin dysplasia, type 2 |
236 | DSPP |
237 | Dentinogenesis imperfecta, Shields type 2 |
238 | DSPP |
239 | Dentinogenesis imperfecta, Shields type 3 |
240 | DSPP |
241 | Dermatitis, atopic type 2 |
242 | FLG |
243 | Dermatopathia pigmentosa reticularis |
244 | KRT14 |
245 | Diaphyseal medullary stenosis with malignant fibrous histiocytoma |
246 | MTAP |
247 | Diarrhea type 2 with microvillus atrophy |
248 | MYO5B |
249 | Diarrhea type 6 |
250 | GUCY2C |
251 | Dyschromatosis universalis hereditaria type 3 |
252 | ABCB6 |
253 | Dyskeratosis congenita, autosomal recessive type 1 |
254 | NOP10 |
255 | Dyskeratosis congenita, autosomal recessive type 2 |
256 | NHP2 |
257 | Dyskeratosis congenita, autosomal recessive type 4/ autosomal dominant type 2 |
258 | TERT |
259 | Dyskeratosis congenita, autosomal recessive type 5 |
260 | RTEL1 |
261 | Dyskeratosis congenita, autosomal recessive type 6 |
262 | PARN |
263 | Dyskeratosis congenita, autosomal recessive type 7 |
264 | ACD |
265 | Dyskeratosis congenita, X-linked |
266 | DKC1 |
267 | Dyssegmental dysplasia, Silverman-Handmaker type |
268 | HSPG2 |
269 | Ectodermal dysplasia type 4, hair/nail type |
270 | KRT85 |
271 | Ectodermal dysplasia, ectrodactyly, and macular dystrophy |
272 | CDH3 |
273 | Ectodermal dysplasia, hidrotic |
274 | GJB6 |
275 | Ectodermal dysplasia, hypohidrotic, autosomal recessive |
276 | EDAR |
277 | Ectodermal dysplasia, hypohidrotic, autosomal recessive |
278 | EDARADD |
279 | Ectodermal dysplasia, hypohidrotic, with immune deficiency |
280 | IKBKG |
281 | Ectodermal dysplasia, hypohidrotic, X-linked |
282 | EDA |
283 | Ectodermal dysplasia/skin fragility syndrome |
284 | PKP1 |
285 | Ehlers-Danlos syndrome type 1/2 |
286 | COL5A1 |
287 | Ehlers-Danlos syndrome type 1/2 |
288 | COL5A2 |
289 | Ehlers-Danlos syndrome type 3 |
290 | COL3A1 |
291 | Ehlers-Danlos syndrome type 3 |
292 | TNXB |
293 | Ehlers-Danlos syndrome type 4 |
294 | COL3A1 |
295 | Ehlers-Danlos syndrome type 4 |
296 | COL5A1 |
297 | Ehlers-Danlos syndrome type 6 |
298 | PLOD1 |
299 | Ehlers-Danlos syndrome type 7A |
300 | COL1A1 |
301 | Ehlers-Danlos syndrome type 7B |
302 | COL1A2 |
303 | Ehlers-Danlos syndrome type 7C |
304 | ADAMTS2 |
305 | Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
306 | FKBP14 |
307 | Ehlers-Danlos syndrome, musculocontractural type 1 |
308 | CHST14 |
309 | Ehlers-Danlos syndrome, musculocontractural type 2 |
310 | DSE |
311 | Ehlers-Danlos syndrome, progeroid type 1 |
312 | B4GALT7 |
313 | Ehlers-Danlos syndrome, progeroid type, type 2 |
314 | B3GALT6 |
315 | Emberger syndrome |
316 | GATA2 |
317 | Epidermolysis bullosa dystrophica |
318 | COL7A1 |
319 | Epidermolysis bullosa dystrophica, autosomal recessive, modifier of |
320 | MMP1 |
321 | Epidermolysis bullosa junctionalis with pyloric atresia |
322 | ITGA6 |
323 | Epidermolysis bullosa junctionalis with pyloric atresia |
324 | ITGB4 |
325 | Epidermolysis bullosa simplex |
326 | KRT5 |
327 | Epidermolysis bullosa simplex with pyloric atresia |
328 | PLEC |
329 | Epidermolysis bullosa simplex, autosomal recessive type 1 |
330 | KRT14 |
331 | Epidermolysis bullosa simplex, autosomal recessive type 2 |
332 | DST |
333 | Epidermolysis bullosa simplex, Dowling-Meara type |
334 | KRT14 |
335 | Epidermolysis bullosa simplex, Koebner type |
336 | KRT14 |
337 | Epidermolysis bullosa simplex, Ogna type |
338 | PLEC |
339 | Epidermolysis bullosa simplex, Weber-Cockayne type |
340 | KRT14 |
341 | Epidermolysis bullosa, generalized atrophic benign |
342 | LAMA3 |
343 | Epidermolysis bullosa, junctional |
344 | COL17A1 |
345 | Epidermolysis bullosa, junctional |
346 | LAMC2 |
347 | Epidermolysis bullosa, junctional, Herlitz type |
348 | LAMA3 |
349 | Epidermolysis bullosa, junctional, Herlitz type |
350 | LAMB3 |
351 | Epidermolysis bullosa, junctional, non-Herlitz type |
352 | LAMB3 |
353 | Epidermolysis bullosa, lethal acantholytic |
354 | DSP |
355 | Epidermolysis bullosa, nonspecific, autosomal recessive |
356 | EXPH5 |
357 | Epidermolytic hyperkeratosis |
358 | KRT1 |
359 | Epidermolytic hyperkeratosis |
360 | KRT10 |
361 | Epidermolytic palmoplantar keratoderma |
362 | KRT9 |
363 | Epiphyseal dysplasia, multiple, type 1 |
364 | COMP |
365 | Epiphyseal dysplasia, multiple, type 3 |
366 | COL9A3 |
367 | Epiphyseal dysplasia, multiple, type 5 |
368 | MATN3 |
369 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis and hyper IgE |
370 | DSG1 |
371 | Erythrokeratodermia variabilis et progressive |
372 | GJB3 |
373 | Erythrokeratodermia variabilis et progressive |
374 | GJB4 |
375 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis |
376 | COX4I2 |
377 | Exostoses, multiple, type 1 |
378 | EXT1 |
379 | Exostoses, multiple, type 2 |
380 | EXT2 |
381 | Fanconi anemia, complementation group Q |
382 | ERCC4 |
383 | Feingold syndrome type 2 |
384 | MIR17HG |
385 | Fibrochondrogenesis 2 |
386 | COL11A2 |
387 | Fibrochondrogenesis type 1 |
388 | COL11A1 |
389 | Fibrodysplasia ossificans progressiva |
390 | ACVR1 |
391 | Fibrosis of extraocular muscles, congenital type 2 |
392 | PHOX2A |
393 | Floating-Harbor syndrome |
394 | SRCAP |
395 | Focal dermal hypoplasia |
396 | PORCN |
397 | Frank-ter Haar syndrome |
398 | SH3PXD2B |
399 | Geleophysic dysplasia type 1 |
400 | ADAMTSL2 |
401 | Geroderma osteodysplasticum |
402 | GORAB |
403 | Ghosal hematodiaphyseal syndrome |
404 | TBXAS1 |
405 | Gnathodiaphyseal dysplasia |
406 | ANO5 |
407 | Gracile bone dysplasia |
408 | FAM111A |
409 | Granulomatous disease, chronic, autosomal recessive, cytochrome b- positive, type 1 |
410 | NCF1 |
411 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
412 | CYBA |
413 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
414 | NCF2 |
415 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 |
416 | NCF4 |
417 | Granulomatous disease, chronic, X-linked |
418 | CYBB |
419 | Greenberg skeletal dysplasia |
420 | LBR |
421 | Griscelli syndrome type 1 |
422 | MYO5A |
423 | Griscelli syndrome type 3 |
424 | MLPH |
425 | Haim-Munk syndrome |
426 | CTSC |
427 | Heimler syndrome type 1 |
428 | PEX1 |
429 | Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy |
430 | CD59 |
431 | Hemophagocytic lymphohistiocytosis type 2 |
432 | PRF1 |
433 | Hemophagocytic lymphohistiocytosis type 3 |
434 | UNC13D |
435 | Hemophagocytic lymphohistiocytosis type 4 |
436 | STX11 |
437 | Hemophagocytic lymphohistiocytosis type 5 |
438 | STXBP2 |
439 | Hennekam lymphangiectasia-lymphedema syndrome type 1 |
440 | CCBE1 |
441 | Hepatic venoocclusive disease with immunodeficiency |
442 | SP110 |
443 | Herpes simplex encephalitis type 2, susceptibility to |
444 | TLR3 |
445 | Histiocytosis-lymphadenopathy plus syndrome |
446 | SLC29A3 |
447 | Hyaline fibromatosis syndrome |
448 | ANTXR2 |
449 | Hyper-IgE recurrent infection syndrome |
450 | STAT3 |
451 | Hyper-IgE recurrent infection syndrome, autosomal recessive |
452 | DOCK8 |
453 | Hypertrophic osteoarthropathy type 1 |
454 | HPGD |
455 | Hypertrophic osteoarthropathy type 2 |
456 | SLCO2A1 |
457 | Hypochondroplasia |
458 | FGFR3 |
459 | Hypophosphatemic rickets with hypercalciuria |
460 | SLC34A3 |
461 | Hypophosphatemic rickets, autosomal dominant |
462 | FGF23 |
463 | Hypophosphatemic rickets, autosomal recessive type 1 |
464 | DMP1 |
465 | Hypophosphatemic rickets, autosomal recessive type 2 |
466 | ENPP1 |
467 | Hypophosphatemic rickets, X-linked |
468 | PHEX |
469 | Hypotrichosis and recurrent skin vesicles |
470 | DSC3 |
471 | Hypotrichosis type 1 |
472 | APCDD1 |
473 | Hypotrichosis type 11 |
474 | SNRPE |
475 | Hypotrichosis type 12 |
476 | RPL21 |
477 | Hypotrichosis type 13 |
478 | KRT71 |
479 | Hypotrichosis type 2 |
480 | CDSN |
481 | Hypotrichosis type 3 |
482 | KRT74 |
483 | Hypotrichosis type 4 |
484 | HR |
485 | Hypotrichosis type 6 |
486 | DSG4 |
487 | Hypotrichosis type 7 |
488 | LIPH |
489 | Hypotrichosis type 8 |
490 | LPAR6 |
491 | Hypotrichosis-lymphedema-telangiectasia syndrome |
492 | SOX18 |
493 | Ichthyosiform erythroderma, congenital, nonbullous type 1 |
494 | ALOXE3 |
495 | Ichthyosiform erythroderma, congenital, nonbullous type 1 |
496 | NIPAL4 |
497 | Ichthyosis congenital, autosomal recessive, PNPLA1 related |
498 | PNPLA1 |
499 | Ichthyosis congenital, Harlequin fetus type |
500 | ABCA12 |
501 | Ichthyosis follicularis, atricia, and photophobia syndrome |
502 | MBTPS2 |
503 | Ichthyosis prematurity syndrome |
504 | SLC27A4 |
505 | Ichthyosis vulgaris |
506 | FLG |
507 | Ichthyosis, bullous type |
508 | KRT2 |
509 | Ichthyosis, congenital, autosomal recessive type 1 |
510 | TGM1 |
511 | Ichthyosis, congenital, autosomal recessive, type 11 |
512 | ST14 |
513 | Ichthyosis, congenital, autosomal recessive, type 2 |
514 | ALOX12B |
515 | Ichthyosis, congenital, autosomal recessive, type 9 |
516 | CERS3 |
517 | Ichthyosis, lamellar type 2 |
518 | ABCA12 |
519 | Ichthyosis, lamellar type 3 |
520 | CYP4F22 |
521 | Ichthyosis, lamellar type 4 |
522 | LIPN |
523 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis |
524 | CLDN1 |
525 | Ichthyosis, spastic quadriplegia, and mental retardation |
526 | ELOVL4 |
527 | Ichthyosis, X-linked |
528 | STS |
529 | Immunodeficiency common variable type 1 |
530 | ICOS |
531 | Immunodeficiency common variable type 10 |
532 | NFKB2 |
533 | Immunodeficiency common variable type 2 |
534 | TNFRSF13B |
535 | Immunodeficiency common variable type 3 |
536 | CD19 |
537 | Immunodeficiency common variable type 4 |
538 | TNFRSF13C |
539 | Immunodeficiency common variable type 6 |
540 | CD81 |
541 | Immunodeficiency common variable type 8 |
542 | LRBA |
543 | Immunodeficiency due to defect in MAPBP-interacting protein |
544 | LAMTOR2 |
545 | Immunodeficiency due to purine nucleoside phosphorylase deficiency |
546 | PNP |
547 | Immunodeficiency type 10 |
548 | STIM1 |
549 | Immunodeficiency type 11 |
550 | CARD11 |
551 | Immunodeficiency type 12 |
552 | MALT1 |
553 | Immunodeficiency type 14 |
554 | PIK3CD |
555 | Immunodeficiency type 15 |
556 | IKBKB |
557 | Immunodeficiency type 18 |
558 | CD3E |
559 | Immunodeficiency type 19 |
560 | CD3D |
561 | Immunodeficiency type 2, with hyper-IgM |
562 | AICDA |
563 | Immunodeficiency type 21 |
564 | GATA2 |
565 | Immunodeficiency type 22 |
566 | LCK |
567 | Immunodeficiency type 24 |
568 | CTPS1 |
569 | Immunodeficiency type 25 |
570 | CD247 |
571 | Immunodeficiency type 3, with hyper-IgM |
572 | CD40 |
573 | Immunodeficiency type 32A, mycobacteriosis, autosomal dominant |
574 | IRF8 |
575 | Immunodeficiency type 32B, monocyte and dendritic cell deficiency, autosomal recessive |
576 | IRF8 |
577 | Immunodeficiency type 34 |
578 | CYBB |
579 | Immunodeficiency type 35 |
580 | TYK2 |
581 | Immunodeficiency type 36 |
582 | PIK3R1 |
583 | Immunodeficiency type 38 |
584 | ISG15 |
585 | Immunodeficiency type 42 |
586 | RORC |
587 | Immunodeficiency type 5, with hyper IgM |
588 | UNG |
589 | Immunodeficiency type 8 |
590 | CORO1A |
591 | Immunodeficiency, isolated |
592 | IKBKG |
593 | Immunodeficiency, primary, autosomal recessive, IL21R-related |
594 | IL21R |
595 | Immunodeficiency, X-linked with hyper-IgM |
596 | CD40LG |
597 | Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 |
598 | DNMT3B |
599 | Immunodeficiency-centromeric instability-facial anomalies syndrome type 2 |
600 | ZBTB24 |
601 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked |
602 | FOXP3 |
603 | Immunological disorder, PECAM1 related |
604 | PECAM1 |
605 | Immunological disorder, PICALM related |
606 | PICALM |
607 | Incontinentia pigmenti type 2 |
608 | IKBKG |
609 | Inflammatory bowel disease type 13 |
610 | ABCB1 |
611 | Inflammatory skin and bowel disease, neonatal, type 1 |
612 | ADAM17 |
613 | Interleukin 12A deficiency |
614 | IL12A |
615 | Interleukin 2 receptor deficiency |
616 | IL2RA |
617 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital |
618 | ITGA3 |
619 | Invasive pneumococcal disease, recurrent isolated type 1 |
620 | IRAK4 |
621 | Invasive pneumococcal disease, recurrent isolated type 2 |
622 | IKBKG |
623 | IRAK4 deficiency |
624 | IRAK4 |
625 | Keratoderma, palmoplantar, punctate type 1A |
626 | AAGAB |
627 | Keratosis follicularis spinulosa declavans, X-linked |
628 | MBTPS2 |
629 | Keratosis linearis with ichthyosis congenita and sclerosing keratoderma |
630 | POMP |
631 | Keratosis palmoplantaris striata type 1 |
632 | DSG1 |
633 | Keratosis palmoplantaris striata type 2 |
634 | DSP |
635 | Kindler syndrome |
636 | FBLIM1 |
637 | Kindler syndrome |
638 | FERMT1 |
639 | Laryngoonychocutaneous syndrome |
640 | LAMA3 |
641 | Legg-Calve-Perthes disease |
642 | COL2A1 |
643 | Legius syndrome |
644 | SPRED1 |
645 | Leukocyte adhesion deficiency type 3 |
646 | FERMT3 |
647 | LIG4 syndrome |
648 | LIG4 |
649 | Loeys-Dietz syndrome type 1A |
650 | TGFBR1 |
651 | Loeys-Dietz syndrome type 1B |
652 | TGFBR2 |
653 | Loeys-Dietz syndrome type 1C |
654 | SMAD3 |
655 | Loeys-Dietz syndrome type 2A |
656 | TGFBR1 |
657 | Loeys-Dietz syndrome type 2B |
658 | TGFBR2 |
659 | Lymphedema, hereditary, type 1A |
660 | FLT4 |
661 | Lymphedema, hereditary, type IC |
662 | GJC2 |
663 | Lymphoproliferative syndrome type 2 |
664 | CD27 |
665 | Majeed syndrome |
666 | LPIN2 |
667 | Major histocompatibility comples 1 deficiency |
668 | MR1 |
669 | Mal de Meleda |
670 | SLURP1 |
671 | Malaria, cerebral, susceptibility to |
672 | ICAM1 |
673 | Malaria, resistance to |
674 | FCGR2B |
675 | Mandibuloacral dysplasia with type B lipodystrophy |
676 | ZMPSTE24 |
677 | Marfan syndrome, TGFBR1 related |
678 | TGFBR1 |
679 | Marfan syndrome, TGFBR2 related |
680 | TGFBR2 |
681 | McKusick-Kaufman syndrome |
682 | MKKS |
683 | Meconium ileus |
684 | GUCY2C |
685 | MEDNIK syndrome |
686 | AP1S1 |
687 | MERRF syndrome, MT-TK related |
688 | MT-TK |
689 | MERRF syndrome, MT-TP related |
690 | MT-TP |
691 | Metaphyseal chondrodysplasia, Schmid type |
692 | COL10A1 |
693 | Metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate |
694 | IDH1 |
695 | Muckle-wells syndrome |
696 | NLRP3 |
697 | Multicentric carpotarsal osteolysis syndrome |
698 | MAFB |
699 | Multicentric osteolysis, nodulosis, and arthropathy |
700 | MMP2 |
701 | Multiple pterygium syndrome lethal type |
702 | CHRNA1 |
703 | Multiple pterygium syndrome lethal type |
704 | CHRND |
705 | Mycobacterial infection, atypical, familial disseminated |
706 | IFNGR1 |
707 | Naegeli-Franceschetti-Jadassohn syndrome |
708 | KRT14 |
709 | Nail-Patella syndrome |
710 | LMX1B |
711 | Nephrolithiasis/osteoporosis, hypophosphatemic, type 2 |
712 | SLC9A3R1 |
713 | Netherton syndrome |
714 | SPINK5 |
715 | Neurofibromatosis type 1 |
716 | NF1 |
717 | Neurofibromatosis type 1 -like syndrome |
718 | SPRED1 |
719 | Neurofibromatosis type 2 |
720 | NF2 |
721 | Neutropenia, nonimmune chronic idiopathic, of adults |
722 | GFI1 |
723 | Neutropenia, severe congenital type 2, autosomal dominant |
724 | GFI1 |
725 | Neutropenia, severe congenital type 4, autosomal recessive |
726 | G6PC3 |
727 | Neutropenia, severe congenital type 5, autosomal recessive |
728 | VPS45 |
729 | Neutropenia, severe congenital type 6, autosomal recessive |
730 | JAGN1 |
731 | Neutrophil immunodeficiency syndrome |
732 | RAC2 |
733 | Odontoonychodermal dysplasia |
734 | WNT10A |
735 | Olmsted syndrome |
736 | TRPV3 |
737 | Omenn syndrome |
738 | DCLRE1C |
739 | Omenn syndrome |
740 | RAG2 |
741 | Omodysplasia type 1 |
742 | GPC6 |
743 | Opsismodysplasia |
744 | INPPL1 |
745 | Osseous heteroplasia, progressive |
746 | GNAS |
747 | Osteoarthritis with mild chondrodysplasia |
748 | COL2A1 |
749 | Osteogenesis and dental anomalies, CSF1 related |
750 | CSF1 |
751 | Osteogenesis disorders, CREB3L1 related |
752 | CREB3L1 |
753 | Osteogenesis imperfecta |
754 | COL1A1 |
755 | Osteogenesis imperfecta |
756 | COL1A2 |
757 | Osteogenesis imperfecta type 10 |
758 | SERPINH1 |
759 | Osteogenesis imperfecta type 11 |
760 | FKBP10 |
761 | Osteogenesis imperfecta type 12 |
762 | SP7 |
763 | Osteogenesis imperfecta type 13 |
764 | BMP1 |
765 | Osteogenesis imperfecta type 14 |
766 | TMEM38B |
767 | Osteogenesis imperfecta type 15 |
768 | WNT1 |
769 | Osteogenesis imperfecta type 5 |
770 | IFITM5 |
771 | Osteogenesis imperfecta type 6 |
772 | SERPINF1 |
773 | Osteogenesis imperfecta type 7 |
774 | CRTAP |
775 | Osteogenesis imperfecta type 8 |
776 | P3H1 |
777 | Osteogenesis imperfecta type 9 |
778 | PPIB |
779 | Osteogenesis imperfecta with congenital joint contractures |
780 | PLOD2 |
781 | Osteolysis, familial expansile |
782 | TNFRSF11A |
783 | Osteomyelitis, sterile multifocal, with periostitis and pustulosis |
784 | IL1RN |
785 | Osteopathia striata with cranial sclerosis |
786 | AMER1 |
787 | Osteopetrosis of infancy, malignant |
788 | SNX10 |
789 | Osteopetrosis, autosomal dominant type 1 |
790 | CLCN7 |
791 | Osteopetrosis, autosomal recessive type 1 |
792 | TCIRG1 |
793 | Osteopetrosis, autosomal recessive type 2 |
794 | TNFSF11 |
795 | Osteopetrosis, autosomal recessive type 3 |
796 | CA2 |
797 | Osteopetrosis, autosomal recessive type 4 |
798 | CLCN7 |
799 | Osteopetrosis, autosomal recessive type 5 |
800 | OSTM1 |
801 | Osteopetrosis, autosomal recessive type 6 |
802 | PLEKHM1 |
803 | Osteopetrosis, autosomal recessive type 7 |
804 | TNFRSF11A |
805 | Osteoporosis pseudoglioma syndrome |
806 | LRP5 |
807 | Pachyonychia congenita type 1 |
808 | KRT16 |
809 | Pachyonychia congenita type 2 |
810 | KRT17 |
811 | Pachyonychia congenita type 3 |
812 | KRT6A |
813 | Pachyonychia congenita type 4 |
814 | KRT6B |
815 | Paget disease of bone |
816 | SQSTM1 |
817 | Paget disease, juvenile |
818 | TNFRSF11B |
819 | Palmoplantar keratoderma, nonepidermolytic, focal |
820 | KRT16 |
821 | Papillon-Lefevre syndrome |
822 | CTSC |
823 | Peeling skin syndrome type 1 |
824 | CDSN |
825 | Peeling skin syndrome type 2 |
826 | TGM5 |
827 | Peeling skin syndrome type 3 |
828 | CHST8 |
829 | Peeling skin syndrome type 4 |
830 | CSTA |
831 | Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads |
832 | CAST |
833 | Piebaldism |
834 | KIT |
835 | Piebaldism |
836 | SNAI2 |
837 | Pityriasis rubra pilaris |
838 | CARD14 |
839 | Poikiloderma with neutropenia |
840 | USB1 |
841 | Porokeratosis type 3, disseminated superficial actinic |
842 | MVK |
843 | Porphyria cutanea tarda |
844 | UROD |
845 | Protoporphyria, erythropoietic type 1 |
846 | FECH |
847 | Pseudoachondroplasia |
848 | COMP |
849 | Pseudoxanthoma elasticum |
850 | ABCC6 |
851 | Pseudoxanthoma elasticum, forme fruste |
852 | ABCC6 |
853 | Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency |
854 | GGCX |
855 | Psoriasis susceptibility type 11 |
856 | IL12B |
857 | Psoriasis type 2 |
858 | CARD14 |
859 | Psoriasis, generalized pustular |
860 | IL36RN |
861 | Pterygium syndrome |
862 | CHRNG |
863 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, type 1 |
864 | TERT |
865 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, type 4 |
866 | PARN |
867 | Pycnodysostosis |
868 | CTSK |
869 | Pyogenic bacterial infections, recurrent, due to MYD88 deficiency |
870 | MYD88 |
871 | Pyogenic sterile arthritis, pyoderma gangrenosum, and acne |
872 | PSTPIP1 |
873 | Radioulnar synostosis, FGFRL1 related |
874 | FGFRL1 |
875 | Raine syndrome |
876 | FAM20C |
877 | Restrictive dermopathy, lethal |
878 | LMNA |
879 | Restrictive dermopathy, lethal |
880 | ZMPSTE24 |
881 | Reticular dysgenesis |
882 | AK2 |
883 | Reticulate acropigmentation of Kitamura |
884 | ADAM10 |
885 | Rheumatoid arthritis, susceptibility to |
886 | AFF3 |
887 | Rheumatoid arthritis, TNFAIP3 related |
888 | TNFAIP3 |
889 | Rickets, vitamin D 25-hydroxylation-deficient, type 1B |
890 | CYP2R1 |
891 | Rickets, vitamin D dependent, type 1 |
892 | CYP27B1 |
893 | Rickets, vitamin D-resistant, type 2A |
894 | VDR |
895 | Sarcoidosis, early-onset |
896 | NOD2 |
897 | Selective T-cell defect |
898 | ZAP70 |
899 | Severe combined immunodeficiency due to ADA deficiency |
900 | ADA |
901 | Severe combined immunodeficiency due to IL2 deficiency |
902 | IL2 |
903 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation |
904 | NHEJ1 |
905 | Severe combined immunodeficiency, Athabascan type |
906 | DCLRE1C |
907 | Severe combined immunodeficiency, B cell-negative |
908 | RAG1 |
909 | Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive |
910 | PTPRC |
911 | Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type |
912 | IL7R |
913 | Skin fragility-woolly hair syndrome |
914 | DSP |
915 | Skin hair eye pigmentation type 6 |
916 | SLC24A4 |
917 | Smith-McCort dysplasia |
918 | DYM |
919 | Spondylocarpotarsal synostosis syndrome |
920 | FLNB |
921 | Spondylocheirodysplasia, Ehlers-Danlos syndrome-like |
922 | SLC39A13 |
923 | Spondylocostal dysostosis, autosomal recessive type 1 |
924 | DLL3 |
925 | Spondylocostal dysostosis, autosomal recessive type 2 |
926 | MESP2 |
927 | Spondylocostal dysostosis, autosomal recessive type 3 |
928 | LFNG |
929 | Spondyloenchondrodysplasia with immune dysregulation |
930 | ACP5 |
931 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures |
932 | B3GALT6 |
933 | Spondyloepimetaphyseal dysplasia, MATN3 related |
934 | MATN3 |
935 | Spondyloepiphyseal dysplasia with congenital joint dislocations |
936 | CHST3 |
937 | Spondylometaepiphyseal dysplasia, short limb-hand type |
938 | DDR2 |
939 | Steatocystoma multiplex |
940 | KRT17 |
941 | Stiff skin syndrome |
942 | FBN1 |
943 | Systemic lupus erythematosus |
944 | DNASE1 |
945 | Systemic lupus erythematosus type 16 |
946 | DNASE1L3 |
947 | Systemic lupus erythematosus, susceptibility to |
948 | ITGAM |
949 | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
950 | FOXN1 |
951 | Telangiectasia hereditary hemorrhagic type 5 |
952 | GDF2 |
953 | Telangiectasia, hereditary hemorrhagic, of Rendu, Osler and Weber type 1 |
954 | ENG |
955 | Telangiectasia, hereditary hemorrhagic, type 2 |
956 | ACVRL1 |
957 | Terminal osseous dysplasis |
958 | FLNA |
959 | Thrombospondin Type 1 domain-containing protein 1 |
960 | THSD1 |
961 | Trichodontoosseous syndrome |
962 | DLX3 |
963 | Trichohepatoenteric syndrome type 1 |
964 | TTC37 |
965 | Trichohepatoenteric syndrome type 2 |
966 | SKIV2L |
967 | Trichorhinophalangeal syndrome type 1 |
968 | TRPS1 |
969 | Trichothiodystrophy |
970 | ERCC2 |
971 | Trichothiodystrophy |
972 | ERCC3 |
973 | Trichothiodystrophy |
974 | GTF2H5 |
975 | Trichothiodystrophy, nonphotosensitive type 1 |
976 | MPLKIP |
977 | Tuftelin deficiency |
978 | TUFT1 |
979 | Tylosis with esophageal cancer |
980 | RHBDF2 |
981 | UV-sensitive syndrome type 1 |
982 | ERCC6 |
983 | UV-sensitive syndrome type 3 |
984 | UVSSA |
985 | Van Buchem disease |
986 | SOST |
987 | Vasculopathy, infantile-onset, TMEM173/STING related |
988 | TMEM173 |
989 | Vitiligo-associated multiple autoimmune disease |
990 | NLRP1 |
991 | Vohwinkel syndrome with ichthyosis |
992 | LORICRIN |
993 | Waardenburg syndrome type 1 |
994 | PAX3 |
995 | Waardenburg syndrome type 2E |
996 | SOX10 |
997 | Waardenburg syndrome type 4C |
998 | SOX10 |
999 | WHIM syndrome |
1000 | CXCR4 |
1001 | Winchester Syndrome |
1002 | MMP14 |
1003 | Wolcott-Rallison syndrome |
1004 | EIF2AK3 |
1005 | Wrinkly skin syndrome |
1006 | ATP6V0A2 |
1007 | Xeroderma pigmentosum, group A |
1008 | XPA |
1009 | Xeroderma pigmentosum, group C |
1010 | XPC |
1011 | Xeroderma pigmentosum, group D |
1012 | ERCC2 |
1013 | Xeroderma pigmentosum, group E, DDB-negative subtype |
1014 | DDB2 |
1015 | Xeroderma pigmentosum, group F |
1016 | ERCC4 |
1017 | Xeroderma pigmentosum, group G |
1018 | ERCC5 |
1019 | Xeroderma pigmentosum, variant type |
1020 | POLH |
1021 | XFE progeroid syndrome |
1022 | ERCC4 |
No. | Description |
---|---|
1 | Accelerated tumor formation, susceptibility to |
2 | MDM2 |
3 | Adenosine triphosphate, elevated, of erythrocytes |
4 | PKLR |
5 | Afibrinogenemia, congenital |
6 | FGA |
7 | Afibrinogenemia, congenital |
8 | FGB |
9 | Afibrinogenemia, congenital |
10 | FGG |
11 | Agammaglobulinemia and isolated hormone deficiency |
12 | BTK |
13 | Agammaglobulinemia type 1, X-linked |
14 | BTK |
15 | Agammaglobulinemia type 2, autosomal recessive |
16 | IGLL1 |
17 | Agammaglobulinemia type 3, autosomal recessive |
18 | CD79A |
19 | Agammaglobulinemia type 4, autosomal recessive |
20 | BLNK |
21 | Agammaglobulinemia type 5, autosomal recessive |
22 | LRRC8A |
23 | Agammaglobulinemia type 6, autosomal recessive |
24 | CD79B |
25 | Agammaglobulinemia type 7, autosomal recessive |
26 | PIK3R1 |
27 | Alpha-thalassemia/mental retardation syndrome |
28 | ATRX |
29 | Anemia, neonatal hemolytic, fatal and near-fatal |
30 | SPTB |
31 | Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive |
32 | GLRX5 |
33 | Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive |
34 | SLC25A38 |
35 | Anemia, sideroblastic, type 4 |
36 | HSPA9 |
37 | Anemia, sideroblastic, with ataxia |
38 | ABCB7 |
39 | Anemia, sideroblastic, X-linked |
40 | ALAS2 |
41 | Anemia, X-linked |
42 | GATA1 |
43 | Anhaptoglobinemia |
44 | HP |
45 | Bare lymphocyte syndrome, type 2, complementation group C |
46 | RFX5 |
47 | Bleeding disorder, platelet-type 15 |
48 | ACTN1 |
49 | Bleeding disorder, platelet-type 17 |
50 | GFI1B |
51 | Bleeding disorder, platelet-type 8 |
52 | P2RY12 |
53 | Bone marrow failure syndrome type 1 |
54 | SRP72 |
55 | Bone marrow failure syndrome type 2 |
56 | ERCC6L2 |
57 | Cyanosis, transient neonatal |
58 | HBG2 |
59 | Dehydrated hereditary stomatocytosis |
60 | PIEZO1 |
61 | Delta-beta thalassemia |
62 | HBB |
63 | Diamond Blackfan anemia type 15 with mandibulofacial dysostosis |
64 | RPS28 |
65 | Diamond-Blackfan anemia type 1 |
66 | RPS19 |
67 | Diamond-Blackfan anemia type 10 |
68 | RPS26 |
69 | Diamond-Blackfan anemia type 11 |
70 | RPL26 |
71 | Diamond-Blackfan anemia type 12 |
72 | RPL15 |
73 | Diamond-Blackfan anemia type 13 |
74 | RPS29 |
75 | Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis |
76 | TSR2 |
77 | Diamond-blackfan anemia type 3 |
78 | RPS24 |
79 | Diamond-Blackfan anemia type 4 |
80 | RPS17 |
81 | Diamond-Blackfan anemia type 5 |
82 | RPL35A |
83 | Diamond-Blackfan anemia type 6 |
84 | RPL5 |
85 | Diamond-Blackfan anemia type 7 |
86 | RPL11 |
87 | Diamond-Blackfan anemia type 8 |
88 | RPS7 |
89 | Diamond-Blackfan anemia type 9 |
90 | RPS10 |
91 | Dyserythropoietic anemia |
92 | COX4I2 |
93 | Dyserythropoietic anemia, congenital, type 1B |
94 | C15orf41 |
95 | Dyserythropoietic anemia, congenital, type 3 |
96 | KIF23 |
97 | Dyserythropoietic anemia, congenital, type 4 |
98 | KLF1 |
99 | Dysprothrombinemia |
100 | F2 |
101 | Erythrocytosis, familial type 1 |
102 | EPOR |
103 | Erythrocytosis, familial type 3 |
104 | EGLN1 |
105 | Erythrocytosis, familial type 4 |
106 | EPAS1 |
107 | Factor X deficiency |
108 | F10 |
109 | Favism, susceptibility to |
110 | G6PD |
111 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
112 | CYBA |
113 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 |
114 | NCF2 |
115 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 |
116 | NCF4 |
117 | Granulomatous disease, chronic, X-linked |
118 | CYBB |
119 | Hemolytic anemia due to G6PD deficiency |
120 | G6PD |
121 | Hemolytic anemia due to triosephosphate isomerase deficiency |
122 | TPI1 |
123 | Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy |
124 | CD59 |
125 | Hemolytic anemia, Kell-system related |
126 | KEL |
127 | Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency |
128 | GPI |
129 | Hemophilia B |
130 | F9 |
131 | Hereditary persistence of fetal hemoglobin |
132 | HBG2 |
133 | Hydrops, lactic acidosis, and sideroblastic anemia |
134 | LARS2 |
135 | Intrinsic factor deficiency |
136 | CBLIF |
137 | Iron-refractory iron deficiency anemia |
138 | TMPRSS6 |
139 | Leukemia, acute myeloid form, susceptible due to TERT germline mutation |
140 | TERT |
141 | Leukocyte adhesion deficiency type 3 |
142 | FERMT3 |
143 | Lutheran inhibitor blood group |
144 | KLF1 |
145 | Lymphoproliferative syndrome type 1 |
146 | ITK |
147 | Lymphoproliferative syndrome, autoimmune, type 5 |
148 | CTLA4 |
149 | Lymphoproliferative syndrome, X-linked type 1 |
150 | SH2D1A |
151 | Lymphoproliferative syndrome, X-linked type 2 |
152 | XIAP |
153 | Megaloblastic anemia type 1 |
154 | AMN |
155 | Megaloblastic anemia type 1, Finnish type |
156 | CUBN |
157 | Methemoglobinemia type 1 |
158 | CYB5R3 |
159 | Myeloproliferative disorder, chronic, with eosinophilia |
160 | PDGFRB |
161 | Neutropenia, severe congenital type 1 |
162 | ELANE |
163 | Neutropenia, severe congenital type 3 |
164 | HAX1 |
165 | Neutropenia, severe congenital type 5, autosomal recessive |
166 | VPS45 |
167 | Neutrophilia, hereditary |
168 | CSF3R |
169 | Platelet aggregation disorder |
170 | PEAR1 |
171 | Platelet dense granule secretion defect, excessive bleeding |
172 | FLI1 |
173 | Platelet disorder with associated myeloid malignancy |
174 | RUNX1 |
175 | Platelet glycoprotein IV deficiency |
176 | CD36 |
177 | Protoporphyria, erythropoietic, X-linked |
178 | ALAS2 |
179 | Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency |
180 | GGCX |
181 | Schimke immunoosseous dysplasia |
182 | SMARCAL1 |
183 | SCID autosomal recessive T negative B positive type |
184 | JAK3 |
185 | Sea-blue histiocyte disease |
186 | APOE |
187 | Shwachman-Diamond syndrome |
188 | SBDS |
189 | Sickle cell anemia |
190 | HBB |
191 | Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay |
192 | TRNT1 |
193 | Spherocytosis type 1 |
194 | ANK1 |
195 | Spherocytosis type 2 |
196 | SPTB |
197 | Spherocytosis type 3 |
198 | SPTA1 |
199 | Spherocytosis type 5 |
200 | EPB42 |
201 | Stormorken syndrome |
202 | STIM1 |
203 | Thalassemia, alpha |
204 | HBA1 |
205 | Thalassemia, alpha |
206 | HBA2 |
207 | Thalassemia, delta |
208 | HBD |
209 | Thiamine-responsive megaloblastic anemia syndrome |
210 | SLC19A2 |
211 | Thrombocytopenia congenital amegakaryocytic |
212 | MPL |
213 | Thrombocytopenia type 2 |
214 | ANKRD26 |
215 | Thrombocytopenia type 2 |
216 | MASTL |
217 | Thrombocytopenia type 4 |
218 | CYCS |
219 | Thrombocytopenia type 5 |
220 | ETV6 |
221 | Thrombocytopenia with beta thalassemia X-linked |
222 | GATA1 |
223 | Thrombocytopenia, neonatal alloimmune |
224 | ITGA2B |
225 | Thrombocytopenia, neonatal alloimmune |
226 | ITGB3 |
227 | Thrombocytopenia, X-linked |
228 | GATA1 |
229 | Thrombocytopenia, X-linked, intermittent |
230 | WAS |
231 | Thrombocytosis, familial, JAK2 related |
232 | JAK2 |
233 | Thrombophilia due to thrombin defect |
234 | F2 |
235 | Thrombophilia, X-linked, due to factor IX defect |
236 | F9 |
237 | Thrombotic thrombocytopenic purpura |
238 | ADAMTS13 |
239 | Thromboxane synthase deficiency |
240 | TBXAS1 |
241 | Vitamin K-dependent clotting factors combined deficiency type 1 |
242 | GGCX |
243 | von Willebrand disease |
244 | VWF |
245 | von Willebrand disease platelet type |
246 | GP1BA |
247 | 17-beta hydroxysteroid dehydrogenase X deficiency |
248 | HSD17B10 |
249 | Achalasia addisonianism alacrimia syndrome |
250 | AAAS |
251 | Acromegaly, predisposition to, due to germline GPR101 mutation |
252 | GPR101 |
253 | Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete |
254 | CYP11A1 |
255 | Adrenocorticotropic hormone deficiency |
256 | TBX19 |
257 | Alport syndrome, autosomal recessive |
258 | COL4A3 |
259 | Alport syndrome, autosomal recessive |
260 | COL4A4 |
261 | Alport syndrome, X-Linked |
262 | COL4A5 |
263 | Androgen insensitivity |
264 | AR |
265 | Androgen insensitivity, partial, with or without breast cancer |
266 | AR |
267 | Androgen-binding protein deficiency |
268 | SHBG |
269 | Arthrogryposis, renal dysfunction, and cholestasis type 2 |
270 | VIPAS39 |
271 | Bardet-Biedl syndrome type 1 |
272 | BBS1 |
273 | Bardet-Biedl syndrome type 10 |
274 | BBS10 |
275 | Bardet-Biedl syndrome type 11 |
276 | TRIM32 |
277 | Bardet-Biedl syndrome type 12 |
278 | BBS12 |
279 | Bardet-Biedl syndrome type 13 |
280 | MKS1 |
281 | Bardet-Biedl syndrome type 14 |
282 | CEP290 |
283 | Bardet-Biedl syndrome type 15 |
284 | WDPCP |
285 | Bardet-Biedl syndrome type 2 |
286 | BBS2 |
287 | Bardet-Biedl syndrome type 3 |
288 | ARL6 |
289 | Bardet-Biedl syndrome type 4 |
290 | BBS4 |
291 | Bardet-Biedl syndrome type 5 |
292 | BBS5 |
293 | Bardet-Biedl syndrome type 6 |
294 | MKKS |
295 | Bardet-Biedl syndrome type 7 |
296 | BBS7 |
297 | Bardet-Biedl syndrome type 8 |
298 | TTC8 |
299 | Bardet-Biedl syndrome type 9 |
300 | BBS9 |
301 | Bardet-Biedl syndrome, LZTFL1 related |
302 | LZTFL1 |
303 | Bardet-Biedl syndrome, modifier of, CCDC28B related |
304 | CCDC28B |
305 | Bartter syndrome |
306 | SLC12A2 |
307 | Bartter syndrome |
308 | SLC12A3 |
309 | Bartter syndrome |
310 | SLC12A5 |
311 | Bartter syndrome |
312 | SLC12A7 |
313 | Bartter syndrome type 1 |
314 | SLC12A1 |
315 | Bartter syndrome type 2 |
316 | KCNJ1 |
317 | Bartter syndrome type 3 |
318 | CLCNKB |
319 | Bartter syndrome type 4a |
320 | BSND |
321 | Bartter syndrome type 4b |
322 | CLCNKA |
323 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia |
324 | IARS2 |
325 | Cholestasis, infantile, NR1H4 related |
326 | NR1H4 |
327 | Crigler-Najjar syndrome, type 1 |
328 | UGT1A1 |
329 | Crigler-Najjar syndrome, type 2 |
330 | UGT1A1 |
331 | Cryptorchidism |
332 | RXFP2 |
333 | Cystinosis, nephropathic |
334 | CTNS |
335 | Cystinuria |
336 | PREPL |
337 | Cystinuria |
338 | SLC3A1 |
339 | Cystinuria |
340 | SLC7A9 |
341 | Dent disease |
342 | CLCN5 |
343 | Diabetes insipidus, nephrogenic, autosomal |
344 | AQP2 |
345 | Dubin-Johnson syndrome |
346 | ABCC2 |
347 | Endocrine-cerebroosteodysplasia |
348 | ICK |
349 | Epstein syndrome |
350 | MYH9 |
351 | Estrogen resistance |
352 | ESR1 |
353 | Factor XI deficiency |
354 | F11 |
355 | Factor XII deficiency |
356 | F12 |
357 | Factor XIIIA deficiency |
358 | F13A1 |
359 | Fanconi renotubular syndrome type 2 |
360 | SLC34A1 |
361 | Fanconi-Bickel syndrome |
362 | SLC2A2 |
363 | Focal segmental glomerulosclerosis and dilated cardiomyopath, MT-TY related |
364 | MT-TY |
365 | Focal segmental glomerulosclerosis type 1 |
366 | ACTN4 |
367 | Focal segmental glomerulosclerosis type 2 |
368 | TRPC6 |
369 | Focal segmental glomerulosclerosis type 3 |
370 | CD2AP |
371 | Focal segmental glomerulosclerosis type 4, susceptibility to |
372 | APOL1 |
373 | Focal segmental glomerulosclerosis type 5 |
374 | INF2 |
375 | Focal segmental glomerulosclerosis type 6 |
376 | MYO1E |
377 | Focal segmental glomerulosclerosis type 7 |
378 | PAX2 |
379 | Focal segmental glomerulosclerosis type 8 |
380 | ANLN |
381 | Focal segmental glomerulosclerosis type 9 |
382 | CRB2 |
383 | Focal segmental glomerulosclerosis, LAMA5 related |
384 | LAMA5 |
385 | FSH releasing protein deficiency |
386 | INHBA |
387 | Gilbert syndrome |
388 | UGT1A1 |
389 | Gitelman syndrome |
390 | SLC12A3 |
391 | Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
392 | UMOD |
393 | Glucocorticoid deficiency type 4, with or without mineralocorticoid deficiency |
394 | NNT |
395 | Glucocorticoid resistance, generalized |
396 | NR3C1 |
397 | Glycine encephalopathy |
398 | AMT |
399 | Glycine encephalopathy |
400 | GLDC |
401 | Glycine N-methyltransferase deficiency |
402 | GNMT |
403 | Goitre, multinodular |
404 | KEAP1 |
405 | Growth hormone deficiency |
406 | GH1 |
407 | Growth hormone deficiency |
408 | GHRHR |
409 | Growth hormone insensitivity with immunodeficiency |
410 | STAT5B |
411 | Hemolytic uremic syndrome |
412 | CFB |
413 | Hemolytic uremic syndrome |
414 | CFH |
415 | Hemolytic uremic syndrome |
416 | CFHR1 |
417 | Hemolytic uremic syndrome |
418 | CFHR2 |
419 | Hemolytic uremic syndrome |
420 | CFHR3 |
421 | Hemolytic uremic syndrome |
422 | CFHR4 |
423 | Hemolytic uremic syndrome |
424 | CFHR5 |
425 | Hemolytic uremic syndrome |
426 | CFI |
427 | Hemolytic uremic syndrome |
428 | THBD |
429 | Hemolytic uremic syndrome, atypical type 2, susceptibility to |
430 | CD46 |
431 | Hepatic failure, early onset, and neurologic disorder |
432 | SCO1 |
433 | Hepatic venoocclusive disease with immunodeficiency |
434 | SP110 |
435 | Hyperaldosteronism type 3 |
436 | KCNJ5 |
437 | Hyperbilirubinemia, familial transient neonatal |
438 | UGT1A1 |
439 | Hyperbilirubinemia, Rotor type |
440 | SLCO1B1 |
441 | Hyperbilirubinemia, Rotor type |
442 | SLCO1B3 |
443 | Hyperparathyroidism type 1, familial |
444 | CDC73 |
445 | Hyperparathyroidism type 2, familial |
446 | CDC73 |
447 | Hyperparathyroidism, neonatal severe |
448 | CASR |
449 | Hypertriglyceridemia, transient infantile |
450 | GPD1 |
451 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis |
452 | SARS2 |
453 | Hyperuricemic nephropathy, familial juvenile type 1 |
454 | UMOD |
455 | Hypocalcemia, autosomal dominant, with Bartter syndrome |
456 | CASR |
457 | Hypocalciuric hypercalcemia, type 1 |
458 | CASR |
459 | Hypogonadotropic hypogonadism |
460 | KISS1R |
461 | Hypogonadotropic hypogonadism |
462 | LHB |
463 | Hypogonadotropic hypogonadism |
464 | NSMF |
465 | Hypogonadotropic hypogonadism type 10 with or without anosmia |
466 | TAC3 |
467 | Hypogonadotropic hypogonadism type 11 with or without anosmia |
468 | TACR3 |
469 | Hypogonadotropic hypogonadism type 12 with or without anosmia |
470 | GNRH1 |
471 | Hypogonadotropic hypogonadism type 15 with or without anosmia |
472 | HS6ST1 |
473 | Hypogonadotropic hypogonadism type 3 with or without anosmia |
474 | PROKR2 |
475 | Hypogonadotropic hypogonadism type 7 with or without anosmia |
476 | GNRHR |
477 | Hypoparathyroidism |
478 | PTH |
479 | Hypoparathyroidism, familial isolated |
480 | GCM2 |
481 | Hypoparathyroidism, sensorineural deafness, and renal dysplasia |
482 | GATA3 |
483 | Hypoparathyroidism-retardation-dysmorphism syndrome |
484 | TBCE |
485 | Hypophosphatemic rickets |
486 | CLCN5 |
487 | Hypothyroidism congenital nongoitrous type 1 |
488 | TSHR |
489 | Hypothyroidism congenital nongoitrous type 2, familial |
490 | PAX8 |
491 | Hypothyroidism congenital nongoitrous type 4 |
492 | TSHB |
493 | Hypothyroidism congenital nongoitrous type 6 |
494 | THRA |
495 | Hypothyroidism, isolated, TRHR related |
496 | TRHR |
497 | Hypotonia-cystinuria syndrome |
498 | PREPL |
499 | Hypouricemia, renal type 1 |
500 | SLC22A12 |
501 | Hypouricemia, renal type 2 |
502 | SLC2A9 |
503 | Immunodeficiency with natural killer cell deficiency |
504 | MCM4 |
505 | Immunodeficiency, common variable type 7 |
506 | CR2 |
507 | Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia |
508 | MAGT1 |
509 | Infantile liver failure syndrome type 2 |
510 | NBAS |
511 | Interstitial nephritis karyomegalic |
512 | FAN1 |
513 | Intrahepatic cholestasis of pregnancy, NR1H4 related |
514 | NR1H4 |
515 | Johanson Blizzard syndrome |
516 | UBR1 |
517 | Kallmann syndrome type 1 |
518 | ANOS1 |
519 | Kallmann syndrome type 2 |
520 | FGFR1 |
521 | Kallmann syndrome type 4 |
522 | PROK2 |
523 | Kallmann syndrome, SEMA3A related |
524 | SEMA3A |
525 | Laron syndrome |
526 | GHR |
527 | Liddle syndrome |
528 | SCNN1B |
529 | Liddle syndrome |
530 | SCNN1G |
531 | Lipoid congenital adrenal hyperplasia |
532 | STAR |
533 | Lipoprotein glomerulopathy |
534 | APOE |
535 | Liver failure transient infantile |
536 | TRMU |
537 | Lowe oculocerebrorenal syndrome |
538 | OCRL |
539 | LYSINURIC PROTEIN INTOLERANCE |
540 | SLC7A7 |
541 | McKusick-Kaufman syndrome |
542 | MKKS |
543 | Meckel syndrome type 1 |
544 | MKS1 |
545 | Meckel syndrome type 10 |
546 | B9D2 |
547 | Meckel syndrome type 3 |
548 | TMEM67 |
549 | Meckel syndrome type 4 |
550 | CEP290 |
551 | Meckel syndrome type 8 |
552 | TCTN2 |
553 | Meckel syndrome type 9 |
554 | B9D1 |
555 | Medullary cystic kidney disease type 2 |
556 | UMOD |
557 | Menkes disease |
558 | ATP7A |
559 | Mirage syndrome |
560 | SAMD9 |
561 | Multiple endocrine neoplasia type 1 |
562 | MEN1 |
563 | Nephrogenic syndrome of inapproriate antidiuresis |
564 | AVPR2 |
565 | Nephrolithiasis type 1 |
566 | CLCN5 |
567 | Nephrolithiasis/osteoporosis, hypophosphatemic, type 1 |
568 | SLC34A1 |
569 | Nephrolithiasis/osteoporosis, hypophosphatemic, type 2 |
570 | SLC9A3R1 |
571 | Nephronophthisis type 1 |
572 | NPHP1 |
573 | Nephronophthisis type 12 |
574 | TTC21B |
575 | Nephronophthisis type 13 |
576 | WDR19 |
577 | Nephronophthisis type 14 |
578 | ZNF423 |
579 | Nephronophthisis type 15 |
580 | CEP164 |
581 | Nephronophthisis type 16 |
582 | ANKS6 |
583 | Nephronophthisis type 19 |
584 | DCDC2 |
585 | Nephronophthisis type 2 |
586 | INVS |
587 | Nephronophthisis type 3 |
588 | NPHP3 |
589 | Nephronophthisis type 4 |
590 | NPHP4 |
591 | Nephronophthisis type 7 |
592 | GLIS2 |
593 | Nephronophthisis type 9 |
594 | NEK8 |
595 | Nephronophthisis-like nephropathy type 1 |
596 | XPNPEP3 |
597 | Nephrosis, Finnish type |
598 | NPHS1 |
599 | Nephrotic syndrome |
600 | NPHS2 |
601 | Nephrotic syndrome type 2 |
602 | NPHS1 |
603 | Nephrotic syndrome type 3 |
604 | PLCE1 |
605 | Nephrotic syndrome type 5 |
606 | LAMB2 |
607 | Nephrotic syndrome type 7 |
608 | DGKE |
609 | Nephrotic syndrome type 8 |
610 | ARHGDIA |
611 | Nephrotic syndrome type 9 |
612 | COQ8B |
613 | Obesity |
614 | MC4R |
615 | Obesity due to leptin deficiency |
616 | LEP |
617 | Obesity with adrenal insufficiency and red hair |
618 | POMC |
619 | Obesity with impaired prohormone processing |
620 | PCSK1 |
621 | Obesity, early-onset, susceptibility to |
622 | POMC |
623 | Obesity, severe |
624 | PPARG |
625 | Obesity, susceptibility to, SLC6A14 related |
626 | SLC6A14 |
627 | Ovalocytosis |
628 | SLC4A1 |
629 | Pancreatitis |
630 | CTRC |
631 | Pancreatitis |
632 | PRSS1 |
633 | Pancreatitis |
634 | SPINK1 |
635 | Pancreatitis, chronic, early onset |
636 | CPA1 |
637 | Pancreatitis, chronic, protection against |
638 | PRSS2 |
639 | Panhypopituitarism, X-linked |
640 | SOX3 |
641 | Parathyroid adenoma with cystic changes, familial |
642 | CDC73 |
643 | Pendred syndrome |
644 | SLC26A4 |
645 | Pigmented nodular adrenocortical disease type 1, primary |
646 | PRKAR1A |
647 | Pituitary hormone deficiency, combined type 3 |
648 | LHX3 |
649 | Pituitary hormone deficiency, combined type 4 |
650 | LHX4 |
651 | Polycystic kidney and hepatic disease |
652 | PKHD1 |
653 | Polycystic kidney disease type 1, autosomal dominant |
654 | PKD1 |
655 | Polycystic kidney disease type 1, autosomal recessive |
656 | PKHD1 |
657 | Polycystic kidney disease type 2, autosomal dominant |
658 | PKD2 |
659 | Polycystic liver disease |
660 | PRKCSH |
661 | Polycystic ovary syndrome type 1 |
662 | SULT2A1 |
663 | Polycystic ovary syndrome type 1 |
664 | SULT2B1 |
665 | Precocious puberty, male |
666 | LHCGR |
667 | Premature ovarian failure type 1 |
668 | FMR1 |
669 | Primary aldosteronism, seizures, and neurologic abnormalities |
670 | CACNA1D |
671 | Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis |
672 | CLCN5 |
673 | Pseudohypoaldosteronism, type 1, autosomal dominant |
674 | NR3C2 |
675 | Pseudohypoaldosteronism, type 1, autosomal recessive |
676 | SCNN1A |
677 | Pseudohypoaldosteronism, type 1, autosomal recessive |
678 | SCNN1B |
679 | Pseudohypoaldosteronism, type 1, autosomal recessive |
680 | SCNN1G |
681 | Pseudohypoaldosteronism, type 2B |
682 | WNK4 |
683 | Pseudohypoparathyroidism type 1A |
684 | GNAS |
685 | Pseudohypoparathyroidism type 1B |
686 | GNAS |
687 | Pseudohypoparathyroidism type 1C |
688 | GNAS |
689 | Pseudopseudohypoparathyroidism |
690 | GNAS |
691 | Renal cystic dysplasia, cystic, susceptibility to |
692 | BICC1 |
693 | Renal dysfunction due to SLC26A1 deficiency |
694 | SLC26A1 |
695 | Renal glucosuria |
696 | SLC5A2 |
697 | Renal tubular acidosis with deafness |
698 | ATP6V1B1 |
699 | Renal tubular acidosis, distal, autosomal recessive |
700 | ATP6V0A4 |
701 | Renal tubular acidosis, proximal, with ocular abnormalities |
702 | SLC4A4 |
703 | Renal tubular acidosis, SLC4A5 related |
704 | SLC4A5 |
705 | Renal tubular dysgenesis |
706 | ACE |
707 | Renal tubular dysgenesis |
708 | AGT |
709 | Renal tubular dysgenesis |
710 | AGTR1 |
711 | Renal tubular dysgenesis |
712 | REN |
713 | Senior-Loken syndrome type 6 |
714 | CEP290 |
715 | Senior-Loken syndrome type 7 |
716 | SDCCAG8 |
717 | Senior-Loken syndrome type 8 |
718 | WDR19 |
719 | SERKAL syndrome |
720 | WNT4 |
721 | Thromocytopenia-Absent-Radius-Syndrome |
722 | RBM8A |
723 | Thyroid dyshormonogenesis type 1 |
724 | SLC5A5 |
725 | Thyroid dyshormonogenesis type 2A |
726 | TPO |
727 | Thyroid dyshormonogenesis type 3 |
728 | TG |
729 | Thyroid dyshormonogenesis type 4 |
730 | IYD |
731 | Thyroid dyshormonogenesis type 5 |
732 | DUOXA2 |
733 | Thyroid dyshormonogenesis type 6 |
734 | DUOX1 |
735 | Thyroid dyshormonogenesis type 6 |
736 | DUOX2 |
737 | Thyroid hormone metabolism abnormal |
738 | SECISBP2 |
739 | Thyroid hormone resistance |
740 | THRB |
741 | Trifunctional protein deficiency |
742 | HADHB |
743 | Ventriculomegaly with cystic kidney disease |
744 | CRB2 |
745 | Vesicoureteral reflux type 2 |
746 | ROBO2 |
747 | Vesicoureteral reflux type 3 |
748 | SOX17 |
749 | Wilms tumor type 1, familial |
750 | WT1 |
751 | Wilson-Turner syndrome |
752 | LAS1L |
753 | Wolcott-Rallison syndrome |
754 | EIF2AK3 |
No. | Description |
---|---|
1 | Achondrogenesis type 1b (SLC26A2 gene) |
2 | Achondroplasia (FGFR3 gene- G1138A and G1138C) Targeted mutation analysis |
3 | Acromicric dysplasia (FBN1 gene) |
4 | Anauxetic dysplasia (RMRP gene) |
5 | Atelosteogenesis type 2 (SLC26A2 gene) |
6 | Bent bone dysplasia syndrome (FGFR2 gene) |
7 | Brachydactyly, type B1 (ROR2 gene) |
8 | Caffey disease (COL1A1 gene) |
9 | Crouzon syndrome with acanthosis nigricans (FGFR3 gene) |
10 | De la Chapelle dysplasia (SLC26A2 gene) |
11 | Diastrophic dysplasia (SLC26A2 gene) |
12 | Epiphyseal dysplasia, Type 4 (SLC26A2 gene) |
13 | Gracile bone dysplasia (FAM111A gene) |
14 | Hypochondroplasia (FGFR3 gene) ( |
15 | Arthropathy, progressive, spondyloepiphyseal dysplasia tarda (WISP3 gene) |
16 | Tarsal-carpal coalition syndrome (NOG gene) |
17 | Kenny-Caffey syndrome-1 (TBCE gene) |
18 | Cleidocranial dysostosis (RUNX2 gene) ( |
19 | Klippel Feil syndrome- Type 3 - Autosomal Dominant (GDF3 gene) |
20 | Larsen syndrome (FLNB gene) |
21 | Metaphyseal dysplasia without hypotrichosis (RMRP gene) |
22 | Muenke syndrome (FGFR3 gene) |
23 | Nail-patella syndrome (LMX1B gene) |
24 | Osteogenesis imperfecta, type 7 (CRTAP genes) |
25 | Osteopetrosis, autosomal recessive 1 (TCIRG1 gene) |
26 | Pycnodysostosis (CTSK gene) |
27 | Robinow syndrome (ROR2 gene) |
28 | Cartilage-hair hypoplasia (RMRP gene) |
29 | Shprintzen-Goldberg Craniosynostosis Syndrome (FBN1 gene) |
30 | Spondylocostal Dysostosis (DLL3 gene) |
31 | Spondylometaepiphyseal dysplasia, short limb-hand type (DDR2 geni) |
32 | Thanatophoric dysplasia type 1 and type 2 (FGFR3 gene) |
No. | Description |
---|---|
1 | Alpha-thalassemia (HBA1, HBA2 ve HBZ genes) (Deletion analysis- MLPA) |
2 | Beta-thalassemia (HBB gene) |
3 | BOMBAY PHENOTYPE - PARA-BOMBAY PHENOTYPE (FUT1 gene) |
4 | Del (20q) (FISH) |
5 | A.11q22.3 (ATM Deletion) (FISH) |
6 | B.11q23 Deletion (FISH) |
7 | C.13q14.3 Deletion (RB1) (FISH) |
8 | D.19p13 (E2A) (Breakapart) (FISH) |
9 | E.20q12 (20q) Deletion (FISH) |
10 | F.5q31 Deletion (EGR1) (FISH) |
11 | G.7q31 Deletion (FISH) |
12 | H.8 Trisomy/ Monosomy (FISH) |
13 | I.AML - MDS Panel (Del (5q) - t(15;17) (q22;q21) (PML/ RARA) - TP53 - t(8;21) (q22;q22) (ETO/ AML1) - Trisomy 8 - t(11;?) (q23;?) (MLL/ ?) - -7/ Del (7q) (Monosomy 7/ Delesyon 7q) - inv(16) (p13;q22) (CBFB/ MYH11) - Del (20q)) (FISH) (PANEL) |
14 | J.cMYC/ IGH, IGL and IGK Translocation (Burkit Lymphoma) t(8;14) , t(8;22) and t(2;8) (FISH) |
15 | K.FIP1L1/CHIC2/PDGFRA Deletion/Fusion (FISH) |
16 | L.JAK2 V600E Mutation (Sequence analysis) |
17 | M.CLL Panel (t(11;14) (q13;q32) and 14q32 Deletion (IgH/ CCND1) - Trisomy 12 - 13q14.3 Deletion (RB1) - p53 Gene (TP53) (17p13.1) - 6q23 Deletion - 11q22.3 Deletion (ATM)) (FISH) (PANEL) |
18 | N.Leukemia, acute myeloid (NPM1 gen) |
19 | O.Monosomy 4 (FISH) |
20 | P.Monosomy 5 (FISH) |
21 | Q.Monosomy 7/ deletion 7q (-7/del7q) (FISH) |
22 | R.Multipl Myeloma Panel CKS1B/CDKN2C (P18) (1q21/ 1p32.3) Amplification/Deletion, IGH (14q32) breakapart, t(11;14) (q13;q32) (IgH/ CCND1), t(11:14) (IGH/ MYEOV), P53 Gene (TP53) (17p13.1), t(4;14) (IgH/ FGRF3), t(14;16) (IGH/MAF), 9, 11 and 15 aneuploidy, 1 |
23 | S.P16 (FISH) |
24 | T.P53 Gene (TP53) (17p13.1) (FISH) |
25 | U.t (11;?) (q23;?) (MLL / ?) (MLL TRANSLOCATIONS) (FISH) |
26 | V.t(14:16) (IGH/MAF) (FISH) |
27 | W.t (3;3) (q21;q26) and inv (3) (q21q26) (EVI1) (FISH) |
28 | X.t (4;11) (q21;q23) (MLL / AF4) (REAL-TIME PCR) |
29 | Y.t(4;14) (IgH/ FGRF3) (FISH) |
30 | Z.t (8;14) (q14;q32) (?-IGH) (FISH) |
31 | Z1. Trisomy 10 (FISH) |
32 | Z2. Trisomy 12 (FISH) |
33 | Z3. Von Willebrand disease, type 1,2A, 2B, 2M, 2N, 3 (VWF gene) |
34 | Z4. Warfarin sensitivity (F9 gene) Xq13.2 (XIST) (FISH) |
35 | Z5. ALL Paneli (t(11;?) (q23;?) (MLL/ ?) - t(12;21) (p13;q22) (TEL/ AML1) - E2A (TCF3) Break Apart - MYC rearrangements - IgH rearrangements - t(9;22) (q34;q11.2) - 4, 10, 17. abnormalities - aneuploidies - p16) (FISH) |
36 | Diamond-Blackfan anemia 1 (RPS19 gene) |
37 | Thrombophilia, X-linked, due to factor 9 defect (F9 gene) |
38 | Hemophilia A (F8 gene) |
39 | Hemophilia B (F9 gene) |
40 | Thrombosis, hyperhomocysteinemic (CBS gene) |
41 | Human Platelet Antigen (HPA1, HPA2, HPA3, HPA4, HPA5 and HPA15 genes, a and b alleles) |
42 | inv (16) (p13;q22) (CBFB / MYH11)/ t (16;16) (p13;q22) (CBFB / MYH11) (REAL-TIME PCR) |
43 | Chimerism (FISH) (Same gender) |
44 | Sickle cell anemia (HBB gene) (GLU6VAL) |
45 | t (11;14) (q13;q32) (IgH / CCND1) (FISH) |
46 | t (12;21) (p13;q22) (TEL / AML1) (FISH) |
47 | t (14;18) (q32;q21) (IgH / BCL2) (FISH) |
48 | t (15;17) (q22;q21) (PML / RARA) (FISH) |
49 | t (8;21) (q22;q22) (ETO / AML1) (FISH) |
50 | t (9;22) (q34;q11.2) (BCR/ABL) (Philadelphia chromosome) (FISH) |
51 | Thrombocytopenia, congenital amegakaryocytic (MPL gene) |
52 | Thrombocytopenia, X-linked (WAS gene) |
No. | Description |
---|---|
1 | Amniotic fluid- Chromosome analysis |
2 | Bloom syndrome (Kromozom analizi ve SCE-Sister Chromatid Exchange) |
3 | Skin biopsy- Chromosome analysis |
4 | DEB test (Fanconi anemia) |
5 | Abortion- Chromosome analysis |
6 | Fetal blood sample - Chromosome analysis |
7 | Fragile-X chromosome analysis |
8 | Gonad biopsy- Chromosome analysis |
9 | High resolution (HRB) chromosome analysis |
10 | ICF (Immundeficiency- Centromeric instability- Facial anomalies) |
11 | SCE-Sister Chromatid Exchange |
12 | Peripheral blood- Chromosome analysis |
13 | Solid Tissue biopsy- Chromosome analysis |
14 | Xseroderma pigmentosum |
No. | Description |
---|---|
1 | Acrodermatitis Enteropathica (SLC39A4 gene) |
2 | Alagille syndrome (JAG1 gene) |
3 | Cholestasis, benign recurrent intrahepatic (ATP8B1, ABCB11 genes) |
4 | CriglerNajjar syndrome type 1 and type 2 (UGT1A1 gene) |
5 | DubinJohnson syndrome (ABCC2 gene) |
6 | Cholestasis, familial intrahepatic, of pregnancy (ABCB4 gene) |
7 | Gilbert's syndrome (UGT1A1 gene) |
8 | Cholestasis, progressive familial intrahepatic 1 (PFIC1) (ATP8B1 gene) |
9 | Diarrhea 1, secretory chloride, congenital (SLC26A3 gene) |
10 | Pancreatitis, chronic (CTRC gene) |
No. | Description |
---|---|
1 | Growth hormone insensitivity with immunodeficiency (STAT5B gene) |
2 | Immunodeficiency due to defect in CD3-zeta (CD247 gene) |
3 | Neutrophilia, hereditary (CSF3R gene) |
4 | Hyper-IgE recurrent infection syndrome (STAT3 gene) |
5 | IPEX syndrome (Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked) |
6 | IRAK4 deficiency (IRAK4 gene) |
7 | Immunodeficiency 23 (PGM3 gene) |
8 | Immunodeficiency, common variable, 2 (TNFRSF13B gene) |
9 | Invasive pneumococcal disease, recurrent isolated, 1 (IRAK4 gene) |
10 | Combined cellular and humoral immune defects with granulomas (RAG1 gene) |
11 | Complement C1q deficiency (C1QA, C1QB, C1QC genes) |
12 | Kostmann disease (HAX1 gene) |
13 | LIG4 sendromu (LIG4 gene) |
14 | Nijmegen breakage syndrome (NBN Gene-c.657_661del5/ c.657_661del5657del5 mutations |
15 | Neutrophil immunodeficiency syndrome (RAC2 gene) |
16 | Omenn syndrome (RAG1 gene) |
17 | Autoimmune Diseases (Autoimmune Hypothyroidism, type1 diabetes mellitus, etc) (CTLA4 gene) |
18 | Macroglobulinemia, Waldenstrom, somatic (MYD88 gene) |
19 | Reticular dysgenesis (AK2 gene) |
20 | Neutropenia, cyclic (ELANE gene) |
21 | Wiskott-Aldrich syndrome (WAS gene) |
22 | Immunodeficiency, X-linked, with hyper-IgM (CD40LG gene) |
NO. | TEST NAME | SAMPLE TYPE |
---|---|---|
1 | 17-Hydroxypregnenolone | 24 Hrs Urine |
2 | 17-OHP [17-Hydroxyprogesterone] | Serum |
3 | 5-HIAA [5-Hydroxyindole Acetic Acid] | 24 Hrs Urine |
4 | ACE [Angiotensin Converting Enzyme] Level | Serum |
5 | ACHR [Acetylcholine Receptor] Antibodies, Quantitative | Serum |
6 | ACTH [Adrenocorticotropic Hormone] | Serum |
7 | Activated Protein C Resistance, PCR | Plasma [Sodium Citrate] |
8 | Activated Protein C Resistance, PCR | Whole Blood [EDTA] |
9 | Adenovirus | |
10 | ADH [Anti-diuretic Hormone] [Vasopressin] | Plasma [EDTA] & Serum |
11 | AFB Smear | Body fluid |
12 | AFB Smear | Sputum |
13 | AFP [Alpha Fetoprotein] | Serum |
14 | Albumin | Serum |
15 | Aldolase | Serum |
16 | Aldosterone level | 24 Hrs Urine |
17 | Aldosterone level [Supine] | Serum |
18 | Aldosterone level [Up right] | Serum |
19 | Aldosterone/Renin Ratio (Supine) [ARR] | |
20 | Aldosterone/Renin Ratio (Up right) [ARR] | |
21 | Alkaline Phosphatase Iso-enzymes | Serum |
22 | Allergy, Food Panel [30 Allergens] | Serum |
23 | Allergy, Paediatric Panel [30 Allergens] | Serum |
24 | Allergy, Respiratory Panel [30 Allergens] | Serum |
25 | ALP [Alkaline Phosphatase] | Serum |
26 | Alpha Thalassemia Trait | Whole Blood [EDTA] |
27 | ALT [Alanine Aminotransferase] [GPT] | Serum |
28 | AMA [Anti Mitochondrial Antibody] | Serum |
29 | AMH [Anti Mullerian Hormone] | Serum |
30 | Amylase | 24 Hrs Urine |
31 | Amylase | Spot Urine |
32 | Amylase | Body Fluid |
33 | Amylase | Serum |
34 | ANA [Anti-Nuclear Antibody] | Serum |
35 | ANA Latex | Serum |
36 | ANA- Profile (All Profiles) | Serum |
37 | ANA- Profile: | Serum |
AIH [Autoimmune Hepatitis] [LKM1 Abs, LC1 Abs, SLA Abs, F-actin Abs] | ||
38 | ANA- Profile: | Serum |
Autoimmune Gastritis [IF (intrinsic factor), PCA (Parietal Cell Antibodies)] | ||
39 | ANA- Profile: | Serum |
Celiac Disease [Anti-gliadin Abs, Anti-tTG Abs] | ||
40 | ANA- Profile: | Serum |
Goodpasture syndrome [GBM (Glomerular Basement Membrane)] | ||
41 | ANA- Profile: | Serum |
Milk intolerance [ß-Lactoglobulin Abs] | ||
42 | ANA- Profile: | Serum |
PBC [Primary Biliary Cirrhosis] [M2 Abs, M2/PDC-E2, M2/BCO ADC-E2, M2/OGDC-E2, gp210, sp100] | ||
43 | ANA- Profile: | Serum |
Polymyositis/Dermatomyositis and Scleroderma [Jo-1 Abs, PL-7 & PL-12 Abs, EJ, OJ, KS, HA, ZO, SRP Abs, MDA-5 Abs, Anti-TIF1-l Abs, Mi-2 Abs, HMGCR Abs, SAE Abs, NXP-2 Abs, PM-Scl Abs, Ku Abs, Scl-70 Abs, RNA polymerase III Abs, Th/To, Anti-Fibrillarin Abs, NOR-90] | ||
44 | ANA- Profile: | Serum |
Sharp Syndrome [RNP Abs, Sm/RNP Abs] | ||
45 | ANA- Profile: | Serum |
Sjogrens Syndrome [Anti-SSA, TRIM21, SSB Abs] | ||
46 | ANA- Profile: | Serum |
SLE [Systemic Lupus Erythromatosus] [ds-DNA Abs, Histone Protein, Nucleosome Abs, Sm Abs, Ribosome P protein (RPP) Abs, PCNA, Centromere Abs] | ||
47 | ANA- Profile: | Serum |
Vasculitis syndrome [Proteinase 3 (RP3), Myeloperoxidase MPO, C-ANCA, P-ANCA] | ||
48 | ANCA/PR3 [Antineutrophil Cytoplasmic Antibodies] | Serum |
49 | Androgen | Serum |
50 | Androstenedione | Serum |
51 | Anti- Chlamydia Antibodies, IgA | Serum |
52 | Anti- Chlamydia Antibodies, IgG | Serum |
53 | Anti- Chlamydia Antibodies, IgM | Serum |
54 | Anti-Cardiolipin Antibodies, IgG | Serum |
55 | Anti-Cardiolipin Antibodies, IgM | Serum |
56 | Anti-Endomysial Antibodies, IgA | Serum |
57 | Anti-Endomysial Antibodies, IgG | Serum |
58 | Anti-GAD [Glutamic Acid Decarboxylase Abs] [GADA] | Serum |
59 | Anti-HBc Ab [Hepatitis B Core Antibodies, IgM] | Serum |
60 | Anti-HBc Ab [Hepatitis B Core Antibodies, Total] | Serum |
61 | Anti-HBe Ab [Hepatitis B Envelope Antibodies] | Serum |
62 | Anti-HBs Ab [Hepatitis B Surface Antibody] titer | Serum |
63 | Anti-Insulin Antibodies | Serum |
64 | Anti-Intrinsic factor | Serum |
65 | Anti-La [Anti-SS-B Antibody] | Serum |
66 | Anti-Ro [Anti-SS-A Antibody] | Serum |
67 | Anti-Sm [Anti-Smith Antibodies] | Serum |
68 | Anti-Sperm Antibody | Serum |
69 | Anti-TG [Anti Thyroglobulin Antibodies] | Serum |
70 | Anti-Thrombin III | Plasma [Sodium Citrate] |
71 | Anti-TPO [Anti Thyroid Peroxidase Antibodies] | Serum |
72 | APCA [Anti Parietal Cell Antibodies] | Serum |
73 | aPTT [Activated Partial Thromboplastin Time] | Plasma [Sodium Citrate] |
74 | ASMA [Anti Smooth Muscle Abs] | Serum |
75 | ASO [Anti-Streptolysin O] | Serum |
76 | ASO [Anti-Streptolysin O] titer | Serum |
77 | AST [Aspartate Aminotransferase] [GOT] | Serum |
78 | BCR/ABL Translocation [BCR-ABL fusion-Gene] | Whole Blood [EDTA] |
79 | BCR/ABL Translocation [BCR-ABL fusion-Gene] | Whole Blood [Heparin] |
80 | Bence-Jones Protein | 24 Hrs Urine |
81 | Bence-Jones Protein | Spot Urine |
82 | Beta- Globin Gene, Beta- Thalassemia, PCR | Amniotic Fluid |
83 | Beta- Globin Gene, Beta- Thalassemia, PCR | Whole Blood [EDTA] |
86 | Beta-2 Glycoprotein Antibodies, IgG | Serum |
87 | Beta-2 Glycoprotein Antibodies, IgM | Serum |
88 | BFFM [Blood Film for Malaria] | Whole Blood [EDTA] |
89 | Bilirubin, Direct | Serum |
90 | Bilirubin, Indirect | Spot Urine |
91 | Bilirubin, Indirect | Serum |
92 | BK Virus, PCR Quantitative | |
93 | Bleeding Time | |
94 | Blood Culture (Identification & Sensitivity) | Whole Blood in Specialized Bottle |
95 | Blood Film | Whole Blood [EDTA] |
96 | Blood Group and Rh Typing | Whole Blood [EDTA] |
97 | Blood PH | Fresh Blood |
98 | Body Fluid Analysis [Cell Count & Chemical] | Body Fluid |
99 | Brucella Abs Total [2-Mercaptoethanol] [2-ME] | Serum |
100 | Brucella Antibodies, IgG | Serum |
101 | Brucella Antibodies, IgM | Serum |
102 | BUN [Blood Urea Nitrogen] | Serum |
103 | C3 [Complement 3] | Serum |
104 | C4 [Complement 4] | 1 ml Serum |
105 | CA 125 [Cancer Antigen 125] | Serum |
106 | CA 15-3 [Cancer Antigen 15-3] | Serum |
107 | CA 19-9 [Cancer Antigen 19-9] | Serum |
108 | CA 27-29 [Cancer Antigen 27-29] | Serum |
109 | Calcitonin | Serum |
110 | Calcium | 24 Hrs Urine |
111 | Calcium | Spot Urine |
112 | Calcium Total | Serum |
113 | Calcium, Ionised | Serum |
114 | Calcium/Creatinine | |
115 | Calprotectin | Stool |
116 | Catecholamines, Adrenaline [Epinephrine] | Plasma [EDTA] |
117 | Catecholamines, Adrenaline [Epinephrine] | 24 Hrs Urine |
118 | Catecholamines, Metanephrines | Plasma [EDTA] |
119 | Catecholamines, Metanephrines | 24 hrs Urine |
120 | Catecholamines, Noradrenaline [Norepinephrine] | Plasma [EDTA] |
121 | Catecholamines, Noradrenaline [Norepinephrine] | 24 Hrs Urine |
122 | Catecholamines, Normetanephrine | |
123 | Catecholamines, Normetanephrine | |
124 | Catecholamines, Total | 24 Hrs Urine |
126 | CBC [Complete Blood Count] | Whole Blood [EDTA] |
127 | CBP [Complete Blood Picture] | Whole Blood [EDTA] |
128 | CCP-Ab [Cyclic Citrullinated Peptide Antibodies] | Serum |
129 | CEA [Carcinoembryonic Antigen] | Serum |
131 | Cerebrospinal Fluid Analysis [Cell Count & Chemical] | CSF |
132 | Ceruloplasmin | Serum |
133 | CH50 [Complement Haemolytic Activity-50] | Serum |
134 | Chloride | Serum |
135 | Chloride | 24 Hrs Urine |
136 | Chloride | Spot Urine |
137 | Cholesterol, Total | Serum |
138 | Chromosomal analysis for Down syndrome | |
139 | Chromosomal Analysis for female abortion | |
140 | Chromosomal Karyotyping | Amniotic Fluid |
141 | Chromosomal Karyotyping | Chorrionic Villus Sample |
142 | Chromosomal Karyotyping, Fragile X Syndrome | Whole Blood [Heparin] |
143 | Chromosomal Karyotyping, Peripheral Blood | Whole Blood [Heparin] |
144 | Chromosomal Karyotyping, Products of Conception Abortus | |
145 | Citrate | 24 Hrs Urine |
146 | CK-MB [Creatine Kinase MB] | Serum |
147 | Clotting time | |
148 | CMV [Anti-Cytomegalovirus Antibody, IgG] | Serum |
149 | CMV [Anti-Cytomegalovirus Antibody, IgM] | Serum |
150 | CMV Qualitative, PCR | |
151 | CMV Quantitative, PCR | |
152 | Coombs Test, Direct [Anti-globulin] Test | Whole Blood [EDTA] |
153 | Coombs Test, Indirect (IAGT) | Serum |
154 | Copper | Serum |
155 | Copper | 24 Hrs Urine |
156 | Cortisol (Evening 4-8 pm) | Serum |
157 | Cortisol (Morning 7-10 am) | Serum |
158 | Cortisol, Free (24 Hour) | 24 Hrs Urine |
159 | Cortisol, Total | Spot Urine |
160 | Cortisol, Total (24 Hour) | 24 Hrs Urine |
161 | Cortisol, Total [Evening, Morning] | Serum |
162 | C-Peptide | Serum |
163 | CPK [Creatine Phosphokinase] | Serum |
164 | Creatine kinase | Serum |
165 | Creatinine | 24 Hrs Urine |
166 | Creatinine | Spot Urine |
167 | Creatinine | Serum |
168 | Creatinine clearance (CrCl) | 24 Hrs Urine & Serum |
169 | Cross Match | Whole Blood [EDTA] & Serum (Donor and Patient) |
170 | CRP [C-Reactive Protein] | Serum |
171 | CRP [C-Reactive Protein] Latex | Serum |
172 | CRP Ultrasensitive Latex | Serum |
173 | CSF for Culture and Sensitivity | CSF |
174 | Culture For Deep Wound | Swab |
175 | Cyclosporine (C0) | Whole Blood [EDTA] |
176 | Cyclosporine (C2) | Whole Blood [EDTA] |
177 | Cystic Fibrosis, PCR | Amniotic Fluid |
178 | Cystic Fibrosis, PCR | Whole Blood [EDTA] |
179 | Cystine, Qualitative | 24 Hrs Urine |
180 | Cytomegalovirus DNA , PCR Quantitative | Plasma [EDTA] |
181 | D-Dimer | Plasma [Sodium Citrate] |
182 | Dexamethasone Suppression test | Serum |
183 | DHEA-S [Dehydroepiandrosterone Sulphate] | Serum |
184 | DNA Analysis for TB (Tuberculosis), PCR | Urine |
185 | ds-DNA Abs, IgG (Anti-Double Strand DNA) | Serum |
186 | ds-DNA Abs, IgM (Anti-Double Strand DNA) | Serum |
187 | Ear Swab for Culture and Sensitivity | Swab |
188 | EBV [Epstein Barr Virus], PCR | Whole Blood [EDTA] |
189 | Echinococcus Antibody, IgG | Serum |
190 | Echovirus Antibody, IgG | Serum |
191 | EII [E2][Estradiol] | Serum |
192 | Electrolyte with Calcium (Ionized, Free) | |
193 | Electrolytes (Na, K, Cl) | Serum |
194 | Electrolytes (Na, K, Cl) | 24 hours Urine |
195 | Electrolytes (Na, K, Cl) | Spot Urine |
196 | ENA (Extractable Nuclear Antigens Antibodies, Full Panel) | Serum |
197 | EPO [Erythropoietin] | Serum |
198 | ESR [Erythrocyte Sedimentation Rate] | Sodium Citrate |
199 | Estriol, Free | Serum |
200 | Extended metabolic newborn screen | 4 Blood Drops on Card |
201 | Factor II | Plasma [Sodium Citrate] |
202 | Factor II or Prothrombine gene | Plasma [Sodium Citrate] |
203 | Factor II Prothrombin A Mutation, PCR | Whole Blood [EDTA] |
204 | Factor IX | |
205 | Factor IX | Plasma [Sodium Citrate] |
206 | Factor V | |
207 | Factor V | Plasma [Sodium Citrate] |
208 | Factor V Leiden | |
209 | Factor V R2 (H1299R) | |
210 | Factor VI | |
211 | Factor VII | |
212 | Factor VII | Plasma [Sodium Citrate] |
213 | Factor VIII | Plasma [Sodium Citrate] |
214 | Factor X | Plasma [Sodium Citrate] |
215 | Factor XI | Plasma [Sodium Citrate] |
216 | Factor XII | Plasma [Sodium Citrate] |
217 | Factor XIII | Plasma [Sodium Citrate] |
218 | Fasciola hepatice IgG | Serum |
219 | FDP [Fibrinogen Degradation Product] | Plasma [Sodium Citrate] |
220 | Ferritin | Serum |
221 | Fibrinogen | Plasma [Sodium Citrate] |
222 | Trisomy 13 | Whole Blood [EDTA] |
223 | Trisomy 13 | Amniotic Fluid |
224 | Trisomy 13, 18 | Whole Blood [EDTA] |
225 | Trisomy 13, 18 | Amniotic Fluid |
226 | Trisomy 13, 18 ,21 | Amniotic Fluid, Whole Blood [EDTA], Whole Blood [Heparin], CVS |
227 | Trisomy 18 | Whole Blood [EDTA] |
228 | Trisomy 18 | Amniotic Fluid |
229 | Trisomy 21 | Amniotic Fluid |
230 | Trisomy 21 | Whole Blood [EDTA] |
231 | Trisomy X, Y | Whole Blood [EDTA] |
232 | Trisomy X, Y | Amniotic Fluid |
233 | Trisomy X, Y, 21 | Whole Blood [EDTA] |
234 | Trisomy X, Y, 21 | Amniotic Fluid |
235 | Trisomy X, Y, 21, 13, 18 | Whole Blood [EDTA] |
236 | Trisomy X, Y, 21, 13, 18 | Amniotic Fluid |
238 | FMF Gene Mutation [Familial Mediterranean Fever], PCR | Whole Blood [EDTA] |
239 | FOB [Fecal Occult Blood] | Stool |
240 | Folate [Folic Acid] | Serum |
241 | Free PSA/Total PSA ratio | Serum |
242 | FSH [Follicle Stimulating Hormone] | Serum |
243 | F-T3 [Triiodothyronin, Free] | Serum |
244 | F-T4 [Thyroxine, Free] | Serum |
245 | G6PD [Glucose-6-Phosphate Dehydrogenase] | Whole Blood [EDTA] |
246 | GBM [Glomerular Basement Membrane Abs] | Serum |
247 | General Microscopy Examination | Sample Dependant |
248 | General Stool Examination | Stool |
249 | General Urine Examination | Urine |
250 | Gentamicin | Serum |
251 | GGT [Gamma Glutamyl Transferase] | Serum |
252 | GH [Growth Hormone], After Stimulation, Exercise | Serum |
253 | GH [Growth Hormone], Basal Level | Serum |
254 | Gliadin IgA | Serum |
255 | Gliadin IgG | Serum |
256 | Globulin | Serum |
257 | Glucose | Urine |
258 | Glucose | Body Fluid |
259 | Glucose | CSF |
260 | Glucose [Fasting] [Random] | Serum |
261 | Gram Stain | CSF or Swab |
262 | GTT [Glucose Tolerance Test] | Serum at Each Time Point |
263 | H.V.S for Culture and Sensitivities | Swab |
264 | Haemoglobin Electrophoresis, [HPLC] | Whole Blood [EDTA] |
265 | Hb [Haemoglobin] | Whole Blood [EDTA] |
266 | HbA1c [Haemoglobin A1c] [Glycosylated] | Whole Blood [EDTA] |
267 | HBe Ag [Hepatitis B Envelope Antigen] | Serum |
268 | HbH inclusion body | Whole Blood [EDTA] |
269 | HBs Ag [Hepatitis Bs Ag] | Serum |
270 | HBV [Hepatitis B Virus], PCR Quantitative | Serum |
271 | HCV Ab [Hepatitis C Virus Abs] | Serum |
274 | HDL [High Density Lipoprotein] | Serum |
275 | HDL [High Density Lipoprotein] | Serum |
276 | Helicobacter pylori Abs, IgA | Serum |
277 | Helicobacter pylori Abs, IgG | Serum |
278 | Helicobacter Pylori Ag | Stool |
279 | HAV [Hepatitis A Virus] Abs, IgM | Serum |
280 | HAV [Hepatitis A Virus] Abs, Total | Serum |
281 | HCV [Hepatitis C Virus] Genotyping, PCR | Serum |
282 | HCV [Hepatitis C Virus], PCR Quantitative | Serum |
283 | HSV I & II [Herpes Simplex Virus I & II] Abs, IgG | Serum |
284 | HSV I & II [Herpes Simplex Virus I & II] Abs, IgM | Serum |
285 | HEV [Hepatitis E virus], PCR | |
286 | H-FABP [Heart-fatty acid binding protein] | Serum |
287 | HIV I & II Abs | Serum |
288 | HLA 29 Typing | |
289 | HLA- ABC Tissue Typing | Whole Blood [EDTA] |
290 | HLA ABC-DR | Whole Blood [EDTA] |
291 | HLA ABDR (B7,B29,DR2,DR4) | Whole Blood [EDTA] |
292 | HLA B12 | Whole Blood [EDTA] |
293 | HLA- B27 | Whole Blood [EDTA] |
294 | HLA- B5 | Whole Blood [EDTA] |
295 | HLA B51,52 | Whole Blood [EDTA] |
296 | HLA class II DR | Whole Blood [EDTA] |
297 | HLA DQ2,8 | Whole Blood [EDTA] |
298 | HLA- DR Tissue Typing | Whole Blood [EDTA] |
299 | HLA lower level | Whole Blood [EDTA] |
300 | HLA Profiles (27-29-50-51-52-5-9-7-17-19) | Whole Blood [EDTA] |
301 | HLA Matching | Whole Blood [EDTA] |
302 | HLA ABC-DR,DQ | Whole Blood [EDTA] |
303 | HLA-DQ | Whole Blood [EDTA] |
304 | Homocysteine | Serum |
305 | HPV [Human Papillomavirus] Genotyping, PCR | Swab |
306 | HSV I & II [Herpes Simplex Virus I & II], PCR | |
307 | iFOB Test (FIT) | Stool |
308 | IGF-1 [Insulin-like Growth Factor-1] | Serum |
309 | IGF-PB3 (Insulin-like Growth Factor -1 Binding Protein 3) | Serum |
310 | IGRA for TB | Special Tube |
311 | IGRA for TB 1 IGRA for TB 2 | Special Tube |
312 | IL-6 [Interleukin-6] | Serum |
313 | Immunofexation Test | |
314 | IgA [Immunoglobulin A] | CSF |
315 | IgA [Immunoglobulin A] | Serum |
316 | IgE [Immunoglobulin E] | Serum |
317 | IgG [Immunoglobulin G] | Serum |
318 | IgG [Immunoglobulin G] | CSF |
319 | IgM [Immunoglobulin M] | Serum |
320 | IgM [Immunoglobulin M] | CSF |
321 | Inhibin A | Serum |
322 | Insulin | Serum |
323 | Insulin Tolerance Test, Per Sample | Serum at Each Time Point |
324 | Intrinsic Factor Blocking Abs | Serum |
325 | Iron | Serum |
327 | JAK2 Mutation ( V617F/G1849T ) | Whole Blood [EDTA] |
328 | Karyotype for sex chromosoms | |
329 | Lactate | Serum |
330 | Lactate | CSF |
331 | Lactose Tolerace Test | Serum at Each Time Point |
332 | Lambda Light Chain | 24 Hrs Urine |
333 | Lambda Light Chain | Serum |
334 | LDH [Lactate Dehydrogenase] | Serum |
335 | LDL [Low Density Lipoprotein] | Serum |
336 | Lead | Urine |
337 | LH [Luteinizing Hormone] | Serum |
338 | Lipase | Serum |
339 | Lithium | Serum |
340 | Liver Antigen Profile [LKM, SLA, M2, LC-1] | Serum |
341 | LKM Abs ( Liver Kidney Microsome ) | Serum |
342 | LP-PLA2 [Lipoprotein-Associated phospholipase A2] | Plasma [Sodium Citrate] |
343 | Lupus Anticoagulant | Plasma [Sodium Citrate] |
344 | Magnesium | Serum |
345 | Magnesium | 24 Hrs Urine |
347 | Microalbumin | 24 Hrs Urine |
Microalbumin | Spot Urine | |
348 | Microalbumin -Creatinine Ratio | 24 Hrs Urine |
349 | Mid Urine for Culture and Sensitivities | Urine |
350 | Milk for Culture and Sensitivities | Urine |
351 | Mitochondrial Abs (M2) | Serum |
352 | Monospot Test [Infectious Mononucleosis] | Serum |
353 | MTHFR (A1298C) | Whole Blood [EDTA] |
354 | MTHFR C677T Gene Mutation, PCR | Whole Blood [EDTA] |
355 | MTHFR Profile | Whole Blood [EDTA] |
356 | Mycobacterium Tuberculosis DNA, PCR | Body Fluids or Urine |
357 | MYO [Myoglobin] | Serum |
358 | Myoglobin, Quantitative | Spot Urine |
359 | Nasal Smear for Eosinophils | Nasal Fluid |
360 | NBT [Nitro Blue test] | Serum |
361 | Neonatal Screening Profile (1): TSH, G6PD, 17-OHP, IRT, Galactose, Haemoglobinopathies, Amino Acids, Fatty Acids, Organic Acids (45 Disorders ) | 4 Blood Drops on Card |
362 | NT-pro B-type Natriuretic Peptide [B-Type Natriuretic Peptide] [BNP] | Serum |
363 | Osmolality | Serum |
364 | Osmolality | Urine |
365 | Osmolality | 24 Hrs Urine Collection |
366 | Oxalate | 24 Hrs Urine Collection |
367 | Packed Cell Volume PCV | Whole Blood [EDTA] |
368 | PANCA/MPO | Serum |
369 | Pancreatic Langerhans Islet Cell Abs, IgG [Anti-Islet Cell Abs] | Serum |
370 | PAPP-a test (Pregnancy associated plasma protein-A) | Serum |
371 | Parvovirus (B-19) Abs, IgG | 1 ml Serum |
372 | PCT [Procalcitonin] | Serum |
373 | PCV% [Hematocrit](HCT) | Whole Blood [EDTA] |
374 | Periphral Blood Smear | Whole Blood [EDTA] |
375 | Philadelphia Chromosome, PCR | Whole Blood [EDTA] |
376 | Phospholipid Abs, IgG | Serum |
377 | Phospholipid Abs, IgM | Serum |
378 | Phosphorus | 24 Hrs Urine or Spot Urine |
379 | Phosphorus | Serum |
381 | Platelet Count | Whole Blood [EDTA] |
382 | PML-RarX | |
383 | Post Prandial Glucose [After 2 Hours] | Serum |
384 | Potassium | 24 Hrs Urine or Spot Urine |
385 | Potassium | Body Fluid |
386 | Potassium | Serum |
387 | Prenatal Interpretive (Down Syndrome) Open NTD & Trisomy 18 (First Trimester Screen) (PAPPA+FBHCG) | Serum |
388 | Progesterone | Serum |
389 | Pro-Insulin | Serum |
390 | Proinsulin (2 hr. Glucose admn.) | Serum |
391 | Proinsulin (30 min. Glucose admn.) | Serum |
392 | Prolactin | Serum |
393 | Protein C Assay | Plasma [Sodium Citrate] |
394 | Protein Electrophoresis | Serum |
395 | Protein Electrophoresis | Urine |
396 | Protein in body fluid | |
397 | Protein in C.S.F | |
398 | Protein S [Free] | Plasma [Sodium Citrate] |
399 | Protein S Assay | Plasma [Sodium Citrate] |
400 | Proteinase 3 Abs | Serum |
401 | Prothrombin G20210A Mutation, PCR | Whole Blood [EDTA] |
402 | Prothrombin gene mutation (Factor II) | |
403 | PSA [Prostatic-Specific Antigen], Free | Serum |
404 | PSA [Prostatic-Specific Antigen], Total | Serum |
405 | PT [Prothrombin Time][INR] | Plasma [Sodium Citrate] |
406 | PTH [Parathyroid Hormone] | Serum |
407 | PTT [Partial Thromboplastin Time] | Plasma [Sodium Citrate] |
408 | PUS for Culture and sensitivities | |
409 | Reducing substance | Urine or Stool |
410 | Renin ( Healthy donors supine position ) | Plasma [EDTA] |
411 | Renin ( Healthy donors up right position ) | Plasma [EDTA] |
412 | Renin Activity | Plasma [EDTA] |
413 | Reticulocyte Count | Whole Blood [EDTA] |
414 | Rheumatiod Factor Abs, IgA | Serum |
415 | Rheumatoid Factor | Synovial Fluid |
416 | Rheumatoid Factor Abs, IgG | Serum |
417 | Rheumatoid Factor Abs, IgM | Serum |
418 | Rose Bengal test | Serum |
420 | Rotavirus, Ag | Stool |
421 | RPR [Rapid Plasma Reagin] [Syphilis] | Serum |
422 | Rubella Abs, IgG | Serum |
423 | Rubella Abs, IgM | Serum |
424 | Semen fructose test | Seminal Fluid |
425 | Seminal Fluid Analysis | Seminal Fluid |
426 | Seminal for culture and Sensitivities | Seminal Fluid |
427 | SHBG [Sex Hormone Binding Globulin] | Serum |
428 | SLA [Soluble Liver Antigen] | Serum |
429 | Sodium | 24 Hrs Urine or Spot Urine |
430 | Sodium | Serum |
431 | Sodium | Body Fluids |
432 | Spot Urine Albumin | Spot Urine |
433 | Spot Urine Creatinine | Spot Urine |
434 | Spot Urine Protein | Spot Urine |
436 | Sputum for Culture and Sensitivities | Sputum |
437 | Sputum for TB | Sputum |
438 | ß-hCG | Urine |
439 | ß-hCG [Human Chorionic Gonadotropin, ß-Subunit] | Serum |
440 | Stone Analysis [Urinary Calculi analysis] | Renal Stone |
441 | Swab for Culture and Sensitivities | |
442 | Synovial Fluid Analysis | Synovial Fluid |
443 | T3-Free (Triiodothyronin, Free) | Serum |
444 | T4-Free (Thyroxine, Free) | Serum |
445 | Tacrolimus [Prograf] | Whole Blood [EDTA] |
446 | Testosterone, Free | Serum |
447 | Testosterone, Total | Serum |
448 | TG [Thyroglobulin] | Serum |
449 | Thrombin Abs | Plasma [Sodium Citrate] |
450 | Thrombin Time | Plasma [Sodium Citrate] |
451 | TIBC [Total Iron Binding Capacity] | Serum |
453 | Total Protein | Serum |
454 | Total Protein | Synovial Fluid |
455 | Total Protein | 24 Hrs Urine or Spot Urine |
456 | Total Protein | Body Fluid |
457 | Total Protein | CSF |
458 | Toxoplasma gondii Abs, IgG | Serum |
459 | Toxoplasma gondii Abs, IgM | Serum |
460 | TPHA (Treponema pallidum Hemagglutination)(Syphilis) | Serum |
461 | TRAB [Thyroid Stimulating Hormone Receptor Abs] | Serum |
462 | Transferrin | Serum |
463 | Transferrin Saturation ( TS% ) | Serum |
464 | Triglycerides | Serum |
465 | Troponin I | Serum |
466 | Troponin T | Whole Blood [Heparin] |
467 | TSB [Bilirubin, Total] | Serum |
468 | TSH [Thyroid Stimulating Hormone] | Serum |
469 | tTg Ab, IgA [Tissue Transglutaminase Ab, IgA] | Serum |
470 | tTg Ab, IgG [Tissue Transglutaminase Ab, IgG] | Serum |
471 | Tuberklin test | |
472 | Tyrosine | Plasma [EDTA] |
473 | UIBC | Serum |
474 | Urea | Serum |
475 | Urea | 24 Hrs Urine or Spot Urine |
476 | Urea Breath Test | |
477 | Urethral Discharge (Culture & Sensitivity) | Swab |
478 | Urethral Discharge (gram stain, GC ,microscopic examination) | Swab |
479 | Uric Acid | Serum |
480 | Uric Acid | 24 Hrs Urine or Spot Urine |
481 | Uric Acid | Synovial Fluid |
482 | Uric Acid | body fluid |
483 | Uric Acid | CSF |
484 | Urinary Albumin Excretion Rate | Urine |
485 | Urine Albumin (Direct) | Urine |
486 | Urine Albumin/Creatinine Ratio (ACR) | Urine |
487 | Urine Calcium (Direct) | Urine |
488 | Urine Chloride | Urine |
489 | Urine for AFB | Urine |
490 | Urine for Culture and Sensitivities | Urine |
491 | Urine for GC | Urine |
492 | Urine for TB-PCR | Urine |
493 | Urine Potassium | Urine |
494 | Urine Protein Creatinine ratio (PCR) | Urine |
495 | Urine Sodium | Urine |
496 | Vanilmandelic Acid (VMA) | 24 Hrs Urine |
497 | Varicella zoster Virus Abs, IgG VZV | Serum |
498 | Varicella zoster Virus Abs, IgM VZV | Serum |
499 | Vasopressin (Antidiuretic Hormone) | Plasma [EDTA] & Serum |
500 | VCA [EBV][Epstein Barr Virus Capsid Antigens Antibodies, IgG | Serum |
501 | VCA [EBV][Epstein Barr Virus Capsid Antigens Antibodies, IgM] | Serum |
502 | VDRL [Syphilis] | Serum |
503 | Vitamin B12 | Serum |
504 | Vitamin D (1,25-Dihydroxycholecalciferol) | Serum |
505 | Vitamin D3 (25-Hydroxycholecalciferol) | Serum |
506 | VLDL [Very Low Density Lipoprotein] | Serum |
507 | VMA [Vanilmandelic Acid] | 24 Hrs Urine |
508 | VWF [Von Willibrand][Factor VIII Related Ag] | Plasma [Sodium Citrate] |
509 | WBC Differential Count | Whole Blood [EDTA] |
510 | White Blood Cell Count (Leucocyte count ) | Whole Blood [EDTA] |
511 | Widal Test (Salmonella typhi IgG/IgM) | Serum |
512 | Wound for Culture and Sensitivities | Swab |
513 | Y- Chromosome Microdeletion, PCR | Whole Blood [EDTA] |
514 | Zinc | Serum |
515 | Zinc | 24 Hrs Urine |
No. | Description |
---|---|
1 | Amniotic fluid culture |
2 | Fibroblast culture |
3 | Bone marrow culture |
4 | Chorionic Villus Sample (CVS) culture |
5 | Lymphocyte culture |
6 | Solid tissue culture |
No. | Description |
---|---|
1 | Chromosome 10 Alpha Satellite (FISH) |
2 | Chromosome 13/21 Alpha Satellite (FISH) |
3 | Chromosome 14/22 Alpha Satellite (FISH) |
4 | Chromosome 15 Alpha Satellite (FISH) |
5 | Chromosome 20 Alpha Satellite (FISH) |
6 | Acro P arm (Short arm painting of acrosomal chromosomes) |
7 | Human Telomere probemix (MLPA- subtelomeric deletion duplication test)(pre-natal & post natal) |
8 | Marker chromosome analysis - Centromere (MLPA) |
9 | Marker chromosome analysis - Centromere (MLPA) (1) / Prenatal |
10 | Octachrome FISH |
11 | 22q11 microdeletion/ DiGeorge / VCFS syndrome (FISH) |
12 | 4p16.3 deletion syndrome/ Wolf-Hirschhorn syndrome (FISH) |
13 | 5p deletion syndrome/ Cri du chat/ Cat cry (FISH) |
14 | Array-CGH |
15 | CHARGE syndrome (8q12.1 microdeletion) |
16 | Comperative Genomic Hybridisation (CGH) |
17 | DNA sperm integrity testing (TUNEL test) |
18 | Kallmann syndrome (KAL1) (Xp22.31 microdeletion) (FISH) |
19 | 17p13.3 deletion syndrome (FISH) |
20 | Prader-Willi / Angelman syndrome (15q11-q13 microdeletion)(UBE3A) |
21 | 17p11.2 deletion syndrome (FISH) |
22 | Smith Magenis syndrome (17p11.2 microdeletion) |
23 | Sotos syndrome (5q35 microdeletion) |
24 | Sperm FISH |
25 | Steroid sulphatase deficiency (Xp22.31 microdeletion) |
26 | Subtelomeric deletion-duplication analysis (MLPA) |
27 | Williams syndrome (7q11.23 microdeletion) |
28 | 7q11.23 deletion syndrome (FISH) |
29 | Wolf-Hirschhorn syndrome/ 4p16.3 deletion syndrome |
No. | Description |
---|---|
1 | Atrial fibrillation, familial, (GJA5 gene) |
2 | Familial Hypertrophic Cardiomyopathy (1. step) (MYH7, MYBPC3 genes) |
3 | Familial Ventricular Tachycardia/ Fibrilation (DPP6 gene) |
4 | Lymphedema, hereditary, IC (GJC2gene) |
5 | Andersen-Tawil syndrome (Autosomal dominant) (Cardiodysrhythmic periodic paralysis) |
6 | Arrhythmogenic right ventricular dysplasia (ARVD) (1. step) (PKP2,DSP, DSG2 gene. |
7 | Arterial tortuosity syndrome (SLC2A10 gene) |
8 | Brugada syndrome (ST segment anomalies) (2. step) (CACNB2 gene) |
9 | CATSHL syndrome, Camptodactyly, Tall Stature, and Hearing Loss Syndrome (FGFR3 g... |
10 | Dilated Cardiomyopathy (1. step) Whole Mitochondrial Genome Analysis |
11 | Jervell-Lange-Nielsen syndrome (Autosomal recessive) (Hearing loss, arrhythmia, Long QT) (1. step) (KCNQ1 gene) |
12 | Catecholaminergic polymorphic ventricular tachycardia (CPVT) (CASQ2 gene) |
13 | Short QT syndrome (KCNH2,KCNQ1, KCNJ2 genes) |
14 | Sinus node disease, familial, autosomal ressesive (HCN4 gene) |
15 | Sinus node disease (SCN5A, HCN4 gene) |
16 | Naxos disease (JUP gene) |
17 | PULMONARY HYPERTENSION, PRIMARY (BMPR2 gene) |
No. | Description |
---|---|
1 | epidermolysis bullosa |
2 | icthyosis vulgaris(FLG gene) |
3 | restrictive dermatopathy(pre-natal &post natal) |
4 | multiple self-healing squamous epithelioma(TGFBR1 GENE) |
5 | stiff skin syndrome(FBN1) |
6 | sturge-weber, somatic, mosaic(GNAQ gene) |
Hearing Diseases
NO. | TEST NAME | SAMPLE TYPE |
---|---|---|
1 | 17-Hydroxypregnenolone | 24 Hrs Urine |
2 | 17-OHP [17-Hydroxyprogesterone] | Serum |
3 | 5-HIAA [5-Hydroxyindole Acetic Acid] | 24 Hrs Urine |
4 | ACE [Angiotensin Converting Enzyme] Level | Serum |
5 | ACHR [Acetylcholine Receptor] Antibodies, Quantitative | Serum |
6 | ACTH [Adrenocorticotropic Hormone] | Serum |
7 | Activated Protein C Resistance, PCR | Plasma [Sodium Citrate] |
8 | Activated Protein C Resistance, PCR | Whole Blood [EDTA] |
9 | Adenovirus | |
10 | ADH [Anti-diuretic Hormone] [Vasopressin] | Plasma [EDTA] & Serum |
11 | AFB Smear | Body fluid |
12 | AFB Smear | Sputum |
13 | AFP [Alpha Fetoprotein] | Serum |
14 | Albumin | Serum |
15 | Aldolase | Serum |
16 | Aldosterone level | 24 Hrs Urine |
17 | Aldosterone level [Supine] | Serum |
18 | Aldosterone level [Up right] | Serum |
19 | Aldosterone/Renin Ratio (Supine) [ARR] | |
20 | Aldosterone/Renin Ratio (Up right) [ARR] | |
21 | Alkaline Phosphatase Iso-enzymes | Serum |
22 | Allergy, Food Panel [30 Allergens] | Serum |
23 | Allergy, Paediatric Panel [30 Allergens] | Serum |
24 | Allergy, Respiratory Panel [30 Allergens] | Serum |
25 | ALP [Alkaline Phosphatase] | Serum |
26 | Alpha Thalassemia Trait | Whole Blood [EDTA] |
27 | ALT [Alanine Aminotransferase] [GPT] | Serum |
28 | AMA [Anti Mitochondrial Antibody] | Serum |
29 | AMH [Anti Mullerian Hormone] | Serum |
30 | Amylase | 24 Hrs Urine |
31 | Amylase | Spot Urine |
32 | Amylase | Body Fluid |
33 | Amylase | Serum |
34 | ANA [Anti-Nuclear Antibody] | Serum |
35 | ANA Latex | Serum |
36 | ANA- Profile (All Profiles) | Serum |
37 | ANA- Profile: | Serum |
AIH [Autoimmune Hepatitis] [LKM1 Abs, LC1 Abs, SLA Abs, F-actin Abs] | ||
38 | ANA- Profile: | Serum |
Autoimmune Gastritis [IF (intrinsic factor), PCA (Parietal Cell Antibodies)] | ||
39 | ANA- Profile: | Serum |
Celiac Disease [Anti-gliadin Abs, Anti-tTG Abs] | ||
40 | ANA- Profile: | Serum |
Goodpasture syndrome [GBM (Glomerular Basement Membrane)] | ||
41 | ANA- Profile: | Serum |
Milk intolerance [ß-Lactoglobulin Abs] | ||
42 | ANA- Profile: | Serum |
PBC [Primary Biliary Cirrhosis] [M2 Abs, M2/PDC-E2, M2/BCO ADC-E2, M2/OGDC-E2, gp210, sp100] | ||
43 | ANA- Profile: | Serum |
Polymyositis/Dermatomyositis and Scleroderma [Jo-1 Abs, PL-7 & PL-12 Abs, EJ, OJ, KS, HA, ZO, SRP Abs, MDA-5 Abs, Anti-TIF1-l Abs, Mi-2 Abs, HMGCR Abs, SAE Abs, NXP-2 Abs, PM-Scl Abs, Ku Abs, Scl-70 Abs, RNA polymerase III Abs, Th/To, Anti-Fibrillarin Abs, NOR-90] | ||
44 | ANA- Profile: | Serum |
Sharp Syndrome [RNP Abs, Sm/RNP Abs] | ||
45 | ANA- Profile: | Serum |
Sjogrens Syndrome [Anti-SSA, TRIM21, SSB Abs] | ||
46 | ANA- Profile: | Serum |
SLE [Systemic Lupus Erythromatosus] [ds-DNA Abs, Histone Protein, Nucleosome Abs, Sm Abs, Ribosome P protein (RPP) Abs, PCNA, Centromere Abs] | ||
47 | ANA- Profile: | Serum |
Vasculitis syndrome [Proteinase 3 (RP3), Myeloperoxidase MPO, C-ANCA, P-ANCA] | ||
48 | ANCA/PR3 [Antineutrophil Cytoplasmic Antibodies] | Serum |
49 | Androgen | Serum |
50 | Androstenedione | Serum |
51 | Anti- Chlamydia Antibodies, IgA | Serum |
52 | Anti- Chlamydia Antibodies, IgG | Serum |
53 | Anti- Chlamydia Antibodies, IgM | Serum |
54 | Anti-Cardiolipin Antibodies, IgG | Serum |
55 | Anti-Cardiolipin Antibodies, IgM | Serum |
56 | Anti-Endomysial Antibodies, IgA | Serum |
57 | Anti-Endomysial Antibodies, IgG | Serum |
58 | Anti-GAD [Glutamic Acid Decarboxylase Abs] [GADA] | Serum |
59 | Anti-HBc Ab [Hepatitis B Core Antibodies, IgM] | Serum |
60 | Anti-HBc Ab [Hepatitis B Core Antibodies, Total] | Serum |
61 | Anti-HBe Ab [Hepatitis B Envelope Antibodies] | Serum |
62 | Anti-HBs Ab [Hepatitis B Surface Antibody] titer | Serum |
63 | Anti-Insulin Antibodies | Serum |
64 | Anti-Intrinsic factor | Serum |
65 | Anti-La [Anti-SS-B Antibody] | Serum |
66 | Anti-Ro [Anti-SS-A Antibody] | Serum |
67 | Anti-Sm [Anti-Smith Antibodies] | Serum |
68 | Anti-Sperm Antibody | Serum |
69 | Anti-TG [Anti Thyroglobulin Antibodies] | Serum |
70 | Anti-Thrombin III | Plasma [Sodium Citrate] |
71 | Anti-TPO [Anti Thyroid Peroxidase Antibodies] | Serum |
72 | APCA [Anti Parietal Cell Antibodies] | Serum |
73 | aPTT [Activated Partial Thromboplastin Time] | Plasma [Sodium Citrate] |
74 | ASMA [Anti Smooth Muscle Abs] | Serum |
75 | ASO [Anti-Streptolysin O] | Serum |
76 | ASO [Anti-Streptolysin O] titer | Serum |
77 | AST [Aspartate Aminotransferase] [GOT] | Serum |
78 | BCR/ABL Translocation [BCR-ABL fusion-Gene] | Whole Blood [EDTA] |
79 | BCR/ABL Translocation [BCR-ABL fusion-Gene] | Whole Blood [Heparin] |
80 | Bence-Jones Protein | 24 Hrs Urine |
81 | Bence-Jones Protein | Spot Urine |
82 | Beta- Globin Gene, Beta- Thalassemia, PCR | Amniotic Fluid |
83 | Beta- Globin Gene, Beta- Thalassemia, PCR | Whole Blood [EDTA] |
86 | Beta-2 Glycoprotein Antibodies, IgG | Serum |
87 | Beta-2 Glycoprotein Antibodies, IgM | Serum |
88 | BFFM [Blood Film for Malaria] | Whole Blood [EDTA] |
89 | Bilirubin, Direct | Serum |
90 | Bilirubin, Indirect | Spot Urine |
91 | Bilirubin, Indirect | Serum |
92 | BK Virus, PCR Quantitative | |
93 | Bleeding Time | |
94 | Blood Culture (Identification & Sensitivity) | Whole Blood in Specialized Bottle |
95 | Blood Film | Whole Blood [EDTA] |
96 | Blood Group and Rh Typing | Whole Blood [EDTA] |
97 | Blood PH | Fresh Blood |
98 | Body Fluid Analysis [Cell Count & Chemical] | Body Fluid |
99 | Brucella Abs Total [2-Mercaptoethanol] [2-ME] | Serum |
100 | Brucella Antibodies, IgG | Serum |
101 | Brucella Antibodies, IgM | Serum |
102 | BUN [Blood Urea Nitrogen] | Serum |
103 | C3 [Complement 3] | Serum |
104 | C4 [Complement 4] | 1 ml Serum |
105 | CA 125 [Cancer Antigen 125] | Serum |
106 | CA 15-3 [Cancer Antigen 15-3] | Serum |
107 | CA 19-9 [Cancer Antigen 19-9] | Serum |
108 | CA 27-29 [Cancer Antigen 27-29] | Serum |
109 | Calcitonin | Serum |
110 | Calcium | 24 Hrs Urine |
111 | Calcium | Spot Urine |
112 | Calcium Total | Serum |
113 | Calcium, Ionised | Serum |
114 | Calcium/Creatinine | |
115 | Calprotectin | Stool |
116 | Catecholamines, Adrenaline [Epinephrine] | Plasma [EDTA] |
117 | Catecholamines, Adrenaline [Epinephrine] | 24 Hrs Urine |
118 | Catecholamines, Metanephrines | Plasma [EDTA] |
119 | Catecholamines, Metanephrines | 24 hrs Urine |
120 | Catecholamines, Noradrenaline [Norepinephrine] | Plasma [EDTA] |
121 | Catecholamines, Noradrenaline [Norepinephrine] | 24 Hrs Urine |
122 | Catecholamines, Normetanephrine | |
123 | Catecholamines, Normetanephrine | |
124 | Catecholamines, Total | 24 Hrs Urine |
126 | CBC [Complete Blood Count] | Whole Blood [EDTA] |
127 | CBP [Complete Blood Picture] | Whole Blood [EDTA] |
128 | CCP-Ab [Cyclic Citrullinated Peptide Antibodies] | Serum |
129 | CEA [Carcinoembryonic Antigen] | Serum |
131 | Cerebrospinal Fluid Analysis [Cell Count & Chemical] | CSF |
132 | Ceruloplasmin | Serum |
133 | CH50 [Complement Haemolytic Activity-50] | Serum |
134 | Chloride | Serum |
135 | Chloride | 24 Hrs Urine |
136 | Chloride | Spot Urine |
137 | Cholesterol, Total | Serum |
138 | Chromosomal analysis for Down syndrome | |
139 | Chromosomal Analysis for female abortion | |
140 | Chromosomal Karyotyping | Amniotic Fluid |
141 | Chromosomal Karyotyping | Chorrionic Villus Sample |
142 | Chromosomal Karyotyping, Fragile X Syndrome | Whole Blood [Heparin] |
143 | Chromosomal Karyotyping, Peripheral Blood | Whole Blood [Heparin] |
144 | Chromosomal Karyotyping, Products of Conception Abortus | |
145 | Citrate | 24 Hrs Urine |
146 | CK-MB [Creatine Kinase MB] | Serum |
147 | Clotting time | |
148 | CMV [Anti-Cytomegalovirus Antibody, IgG] | Serum |
149 | CMV [Anti-Cytomegalovirus Antibody, IgM] | Serum |
150 | CMV Qualitative, PCR | |
151 | CMV Quantitative, PCR | |
152 | Coombs Test, Direct [Anti-globulin] Test | Whole Blood [EDTA] |
153 | Coombs Test, Indirect (IAGT) | Serum |
154 | Copper | Serum |
155 | Copper | 24 Hrs Urine |
156 | Cortisol (Evening 4-8 pm) | Serum |
157 | Cortisol (Morning 7-10 am) | Serum |
158 | Cortisol, Free (24 Hour) | 24 Hrs Urine |
159 | Cortisol, Total | Spot Urine |
160 | Cortisol, Total (24 Hour) | 24 Hrs Urine |
161 | Cortisol, Total [Evening, Morning] | Serum |
162 | C-Peptide | Serum |
163 | CPK [Creatine Phosphokinase] | Serum |
164 | Creatine kinase | Serum |
165 | Creatinine | 24 Hrs Urine |
166 | Creatinine | Spot Urine |
167 | Creatinine | Serum |
168 | Creatinine clearance (CrCl) | 24 Hrs Urine & Serum |
169 | Cross Match | Whole Blood [EDTA] & Serum (Donor and Patient) |
170 | CRP [C-Reactive Protein] | Serum |
171 | CRP [C-Reactive Protein] Latex | Serum |
172 | CRP Ultrasensitive Latex | Serum |
173 | CSF for Culture and Sensitivity | CSF |
174 | Culture For Deep Wound | Swab |
175 | Cyclosporine (C0) | Whole Blood [EDTA] |
176 | Cyclosporine (C2) | Whole Blood [EDTA] |
177 | Cystic Fibrosis, PCR | Amniotic Fluid |
178 | Cystic Fibrosis, PCR | Whole Blood [EDTA] |
179 | Cystine, Qualitative | 24 Hrs Urine |
180 | Cytomegalovirus DNA , PCR Quantitative | Plasma [EDTA] |
181 | D-Dimer | Plasma [Sodium Citrate] |
182 | Dexamethasone Suppression test | Serum |
183 | DHEA-S [Dehydroepiandrosterone Sulphate] | Serum |
184 | DNA Analysis for TB (Tuberculosis), PCR | Urine |
185 | ds-DNA Abs, IgG (Anti-Double Strand DNA) | Serum |
186 | ds-DNA Abs, IgM (Anti-Double Strand DNA) | Serum |
187 | Ear Swab for Culture and Sensitivity | Swab |
188 | EBV [Epstein Barr Virus], PCR | Whole Blood [EDTA] |
189 | Echinococcus Antibody, IgG | Serum |
190 | Echovirus Antibody, IgG | Serum |
191 | EII [E2][Estradiol] | Serum |
192 | Electrolyte with Calcium (Ionized, Free) | |
193 | Electrolytes (Na, K, Cl) | Serum |
194 | Electrolytes (Na, K, Cl) | 24 hours Urine |
195 | Electrolytes (Na, K, Cl) | Spot Urine |
196 | ENA (Extractable Nuclear Antigens Antibodies, Full Panel) | Serum |
197 | EPO [Erythropoietin] | Serum |
198 | ESR [Erythrocyte Sedimentation Rate] | Sodium Citrate |
199 | Estriol, Free | Serum |
200 | Extended metabolic newborn screen | 4 Blood Drops on Card |
201 | Factor II | Plasma [Sodium Citrate] |
202 | Factor II or Prothrombine gene | Plasma [Sodium Citrate] |
203 | Factor II Prothrombin A Mutation, PCR | Whole Blood [EDTA] |
204 | Factor IX | |
205 | Factor IX | Plasma [Sodium Citrate] |
206 | Factor V | |
207 | Factor V | Plasma [Sodium Citrate] |
208 | Factor V Leiden | |
209 | Factor V R2 (H1299R) | |
210 | Factor VI | |
211 | Factor VII | |
212 | Factor VII | Plasma [Sodium Citrate] |
213 | Factor VIII | Plasma [Sodium Citrate] |
214 | Factor X | Plasma [Sodium Citrate] |
215 | Factor XI | Plasma [Sodium Citrate] |
216 | Factor XII | Plasma [Sodium Citrate] |
217 | Factor XIII | Plasma [Sodium Citrate] |
218 | Fasciola hepatice IgG | Serum |
219 | FDP [Fibrinogen Degradation Product] | Plasma [Sodium Citrate] |
220 | Ferritin | Serum |
221 | Fibrinogen | Plasma [Sodium Citrate] |
222 | Trisomy 13 | Whole Blood [EDTA] |
223 | Trisomy 13 | Amniotic Fluid |
224 | Trisomy 13, 18 | Whole Blood [EDTA] |
225 | Trisomy 13, 18 | Amniotic Fluid |
226 | Trisomy 13, 18 ,21 | Amniotic Fluid, Whole Blood [EDTA], Whole Blood [Heparin], CVS |
227 | Trisomy 18 | Whole Blood [EDTA] |
228 | Trisomy 18 | Amniotic Fluid |
229 | Trisomy 21 | Amniotic Fluid |
230 | Trisomy 21 | Whole Blood [EDTA] |
231 | Trisomy X, Y | Whole Blood [EDTA] |
232 | Trisomy X, Y | Amniotic Fluid |
233 | Trisomy X, Y, 21 | Whole Blood [EDTA] |
234 | Trisomy X, Y, 21 | Amniotic Fluid |
235 | Trisomy X, Y, 21, 13, 18 | Whole Blood [EDTA] |
236 | Trisomy X, Y, 21, 13, 18 | Amniotic Fluid |
238 | FMF Gene Mutation [Familial Mediterranean Fever], PCR | Whole Blood [EDTA] |
239 | FOB [Fecal Occult Blood] | Stool |
240 | Folate [Folic Acid] | Serum |
241 | Free PSA/Total PSA ratio | Serum |
242 | FSH [Follicle Stimulating Hormone] | Serum |
243 | F-T3 [Triiodothyronin, Free] | Serum |
244 | F-T4 [Thyroxine, Free] | Serum |
245 | G6PD [Glucose-6-Phosphate Dehydrogenase] | Whole Blood [EDTA] |
246 | GBM [Glomerular Basement Membrane Abs] | Serum |
247 | General Microscopy Examination | Sample Dependant |
248 | General Stool Examination | Stool |
249 | General Urine Examination | Urine |
250 | Gentamicin | Serum |
251 | GGT [Gamma Glutamyl Transferase] | Serum |
252 | GH [Growth Hormone], After Stimulation, Exercise | Serum |
253 | GH [Growth Hormone], Basal Level | Serum |
254 | Gliadin IgA | Serum |
255 | Gliadin IgG | Serum |
256 | Globulin | Serum |
257 | Glucose | Urine |
258 | Glucose | Body Fluid |
259 | Glucose | CSF |
260 | Glucose [Fasting] [Random] | Serum |
261 | Gram Stain | CSF or Swab |
262 | GTT [Glucose Tolerance Test] | Serum at Each Time Point |
263 | H.V.S for Culture and Sensitivities | Swab |
264 | Haemoglobin Electrophoresis, [HPLC] | Whole Blood [EDTA] |
265 | Hb [Haemoglobin] | Whole Blood [EDTA] |
266 | HbA1c [Haemoglobin A1c] [Glycosylated] | Whole Blood [EDTA] |
267 | HBe Ag [Hepatitis B Envelope Antigen] | Serum |
268 | HbH inclusion body | Whole Blood [EDTA] |
269 | HBs Ag [Hepatitis Bs Ag] | Serum |
270 | HBV [Hepatitis B Virus], PCR Quantitative | Serum |
271 | HCV Ab [Hepatitis C Virus Abs] | Serum |
274 | HDL [High Density Lipoprotein] | Serum |
275 | HDL [High Density Lipoprotein] | Serum |
276 | Helicobacter pylori Abs, IgA | Serum |
277 | Helicobacter pylori Abs, IgG | Serum |
278 | Helicobacter Pylori Ag | Stool |
279 | HAV [Hepatitis A Virus] Abs, IgM | Serum |
280 | HAV [Hepatitis A Virus] Abs, Total | Serum |
281 | HCV [Hepatitis C Virus] Genotyping, PCR | Serum |
282 | HCV [Hepatitis C Virus], PCR Quantitative | Serum |
283 | HSV I & II [Herpes Simplex Virus I & II] Abs, IgG | Serum |
284 | HSV I & II [Herpes Simplex Virus I & II] Abs, IgM | Serum |
285 | HEV [Hepatitis E virus], PCR | |
286 | H-FABP [Heart-fatty acid binding protein] | Serum |
287 | HIV I & II Abs | Serum |
288 | HLA 29 Typing | |
289 | HLA- ABC Tissue Typing | Whole Blood [EDTA] |
290 | HLA ABC-DR | Whole Blood [EDTA] |
291 | HLA ABDR (B7,B29,DR2,DR4) | Whole Blood [EDTA] |
292 | HLA B12 | Whole Blood [EDTA] |
293 | HLA- B27 | Whole Blood [EDTA] |
294 | HLA- B5 | Whole Blood [EDTA] |
295 | HLA B51,52 | Whole Blood [EDTA] |
296 | HLA class II DR | Whole Blood [EDTA] |
297 | HLA DQ2,8 | Whole Blood [EDTA] |
298 | HLA- DR Tissue Typing | Whole Blood [EDTA] |
299 | HLA lower level | Whole Blood [EDTA] |
300 | HLA Profiles (27-29-50-51-52-5-9-7-17-19) | Whole Blood [EDTA] |
301 | HLA Matching | Whole Blood [EDTA] |
302 | HLA ABC-DR,DQ | Whole Blood [EDTA] |
303 | HLA-DQ | Whole Blood [EDTA] |
304 | Homocysteine | Serum |
305 | HPV [Human Papillomavirus] Genotyping, PCR | Swab |
306 | HSV I & II [Herpes Simplex Virus I & II], PCR | |
307 | iFOB Test (FIT) | Stool |
308 | IGF-1 [Insulin-like Growth Factor-1] | Serum |
309 | IGF-PB3 (Insulin-like Growth Factor -1 Binding Protein 3) | Serum |
310 | IGRA for TB | Special Tube |
311 | IGRA for TB 1 IGRA for TB 2 | Special Tube |
312 | IL-6 [Interleukin-6] | Serum |
313 | Immunofexation Test | |
314 | IgA [Immunoglobulin A] | CSF |
315 | IgA [Immunoglobulin A] | Serum |
316 | IgE [Immunoglobulin E] | Serum |
317 | IgG [Immunoglobulin G] | Serum |
318 | IgG [Immunoglobulin G] | CSF |
319 | IgM [Immunoglobulin M] | Serum |
320 | IgM [Immunoglobulin M] | CSF |
321 | Inhibin A | Serum |
322 | Insulin | Serum |
323 | Insulin Tolerance Test, Per Sample | Serum at Each Time Point |
324 | Intrinsic Factor Blocking Abs | Serum |
325 | Iron | Serum |
327 | JAK2 Mutation ( V617F/G1849T ) | Whole Blood [EDTA] |
328 | Karyotype for sex chromosoms | |
329 | Lactate | Serum |
330 | Lactate | CSF |
331 | Lactose Tolerace Test | Serum at Each Time Point |
332 | Lambda Light Chain | 24 Hrs Urine |
333 | Lambda Light Chain | Serum |
334 | LDH [Lactate Dehydrogenase] | Serum |
335 | LDL [Low Density Lipoprotein] | Serum |
336 | Lead | Urine |
337 | LH [Luteinizing Hormone] | Serum |
338 | Lipase | Serum |
339 | Lithium | Serum |
340 | Liver Antigen Profile [LKM, SLA, M2, LC-1] | Serum |
341 | LKM Abs ( Liver Kidney Microsome ) | Serum |
342 | LP-PLA2 [Lipoprotein-Associated phospholipase A2] | Plasma [Sodium Citrate] |
343 | Lupus Anticoagulant | Plasma [Sodium Citrate] |
344 | Magnesium | Serum |
345 | Magnesium | 24 Hrs Urine |
347 | Microalbumin | 24 Hrs Urine |
Microalbumin | Spot Urine | |
348 | Microalbumin -Creatinine Ratio | 24 Hrs Urine |
349 | Mid Urine for Culture and Sensitivities | Urine |
350 | Milk for Culture and Sensitivities | Urine |
351 | Mitochondrial Abs (M2) | Serum |
352 | Monospot Test [Infectious Mononucleosis] | Serum |
353 | MTHFR (A1298C) | Whole Blood [EDTA] |
354 | MTHFR C677T Gene Mutation, PCR | Whole Blood [EDTA] |
355 | MTHFR Profile | Whole Blood [EDTA] |
356 | Mycobacterium Tuberculosis DNA, PCR | Body Fluids or Urine |
357 | MYO [Myoglobin] | Serum |
358 | Myoglobin, Quantitative | Spot Urine |
359 | Nasal Smear for Eosinophils | Nasal Fluid |
360 | NBT [Nitro Blue test] | Serum |
361 | Neonatal Screening Profile (1): TSH, G6PD, 17-OHP, IRT, Galactose, Haemoglobinopathies, Amino Acids, Fatty Acids, Organic Acids (45 Disorders ) | 4 Blood Drops on Card |
362 | NT-pro B-type Natriuretic Peptide [B-Type Natriuretic Peptide] [BNP] | Serum |
363 | Osmolality | Serum |
364 | Osmolality | Urine |
365 | Osmolality | 24 Hrs Urine Collection |
366 | Oxalate | 24 Hrs Urine Collection |
367 | Packed Cell Volume PCV | Whole Blood [EDTA] |
368 | PANCA/MPO | Serum |
369 | Pancreatic Langerhans Islet Cell Abs, IgG [Anti-Islet Cell Abs] | Serum |
370 | PAPP-a test (Pregnancy associated plasma protein-A) | Serum |
371 | Parvovirus (B-19) Abs, IgG | 1 ml Serum |
372 | PCT [Procalcitonin] | Serum |
373 | PCV% [Hematocrit](HCT) | Whole Blood [EDTA] |
374 | Periphral Blood Smear | Whole Blood [EDTA] |
375 | Philadelphia Chromosome, PCR | Whole Blood [EDTA] |
376 | Phospholipid Abs, IgG | Serum |
377 | Phospholipid Abs, IgM | Serum |
378 | Phosphorus | 24 Hrs Urine or Spot Urine |
379 | Phosphorus | Serum |
381 | Platelet Count | Whole Blood [EDTA] |
382 | PML-RarX | |
383 | Post Prandial Glucose [After 2 Hours] | Serum |
384 | Potassium | 24 Hrs Urine or Spot Urine |
385 | Potassium | Body Fluid |
386 | Potassium | Serum |
387 | Prenatal Interpretive (Down Syndrome) Open NTD & Trisomy 18 (First Trimester Screen) (PAPPA+FBHCG) | Serum |
388 | Progesterone | Serum |
389 | Pro-Insulin | Serum |
390 | Proinsulin (2 hr. Glucose admn.) | Serum |
391 | Proinsulin (30 min. Glucose admn.) | Serum |
392 | Prolactin | Serum |
393 | Protein C Assay | Plasma [Sodium Citrate] |
394 | Protein Electrophoresis | Serum |
395 | Protein Electrophoresis | Urine |
396 | Protein in body fluid | |
397 | Protein in C.S.F | |
398 | Protein S [Free] | Plasma [Sodium Citrate] |
399 | Protein S Assay | Plasma [Sodium Citrate] |
400 | Proteinase 3 Abs | Serum |
401 | Prothrombin G20210A Mutation, PCR | Whole Blood [EDTA] |
402 | Prothrombin gene mutation (Factor II) | |
403 | PSA [Prostatic-Specific Antigen], Free | Serum |
404 | PSA [Prostatic-Specific Antigen], Total | Serum |
405 | PT [Prothrombin Time][INR] | Plasma [Sodium Citrate] |
406 | PTH [Parathyroid Hormone] | Serum |
407 | PTT [Partial Thromboplastin Time] | Plasma [Sodium Citrate] |
408 | PUS for Culture and sensitivities | |
409 | Reducing substance | Urine or Stool |
410 | Renin ( Healthy donors supine position ) | Plasma [EDTA] |
411 | Renin ( Healthy donors up right position ) | Plasma [EDTA] |
412 | Renin Activity | Plasma [EDTA] |
413 | Reticulocyte Count | Whole Blood [EDTA] |
414 | Rheumatiod Factor Abs, IgA | Serum |
415 | Rheumatoid Factor | Synovial Fluid |
416 | Rheumatoid Factor Abs, IgG | Serum |
417 | Rheumatoid Factor Abs, IgM | Serum |
418 | Rose Bengal test | Serum |
420 | Rotavirus, Ag | Stool |
421 | RPR [Rapid Plasma Reagin] [Syphilis] | Serum |
422 | Rubella Abs, IgG | Serum |
423 | Rubella Abs, IgM | Serum |
424 | Semen fructose test | Seminal Fluid |
425 | Seminal Fluid Analysis | Seminal Fluid |
426 | Seminal for culture and Sensitivities | Seminal Fluid |
427 | SHBG [Sex Hormone Binding Globulin] | Serum |
428 | SLA [Soluble Liver Antigen] | Serum |
429 | Sodium | 24 Hrs Urine or Spot Urine |
430 | Sodium | Serum |
431 | Sodium | Body Fluids |
432 | Spot Urine Albumin | Spot Urine |
433 | Spot Urine Creatinine | Spot Urine |
434 | Spot Urine Protein | Spot Urine |
436 | Sputum for Culture and Sensitivities | Sputum |
437 | Sputum for TB | Sputum |
438 | ß-hCG | Urine |
439 | ß-hCG [Human Chorionic Gonadotropin, ß-Subunit] | Serum |
440 | Stone Analysis [Urinary Calculi analysis] | Renal Stone |
441 | Swab for Culture and Sensitivities | |
442 | Synovial Fluid Analysis | Synovial Fluid |
443 | T3-Free (Triiodothyronin, Free) | Serum |
444 | T4-Free (Thyroxine, Free) | Serum |
445 | Tacrolimus [Prograf] | Whole Blood [EDTA] |
446 | Testosterone, Free | Serum |
447 | Testosterone, Total | Serum |
448 | TG [Thyroglobulin] | Serum |
449 | Thrombin Abs | Plasma [Sodium Citrate] |
450 | Thrombin Time | Plasma [Sodium Citrate] |
451 | TIBC [Total Iron Binding Capacity] | Serum |
453 | Total Protein | Serum |
454 | Total Protein | Synovial Fluid |
455 | Total Protein | 24 Hrs Urine or Spot Urine |
456 | Total Protein | Body Fluid |
457 | Total Protein | CSF |
458 | Toxoplasma gondii Abs, IgG | Serum |
459 | Toxoplasma gondii Abs, IgM | Serum |
460 | TPHA (Treponema pallidum Hemagglutination)(Syphilis) | Serum |
461 | TRAB [Thyroid Stimulating Hormone Receptor Abs] | Serum |
462 | Transferrin | Serum |
463 | Transferrin Saturation ( TS% ) | Serum |
464 | Triglycerides | Serum |
465 | Troponin I | Serum |
466 | Troponin T | Whole Blood [Heparin] |
467 | TSB [Bilirubin, Total] | Serum |
468 | TSH [Thyroid Stimulating Hormone] | Serum |
469 | tTg Ab, IgA [Tissue Transglutaminase Ab, IgA] | Serum |
470 | tTg Ab, IgG [Tissue Transglutaminase Ab, IgG] | Serum |
471 | Tuberklin test | |
472 | Tyrosine | Plasma [EDTA] |
473 | UIBC | Serum |
474 | Urea | Serum |
475 | Urea | 24 Hrs Urine or Spot Urine |
476 | Urea Breath Test | |
477 | Urethral Discharge (Culture & Sensitivity) | Swab |
478 | Urethral Discharge (gram stain, GC ,microscopic examination) | Swab |
479 | Uric Acid | Serum |
480 | Uric Acid | 24 Hrs Urine or Spot Urine |
481 | Uric Acid | Synovial Fluid |
482 | Uric Acid | body fluid |
483 | Uric Acid | CSF |
484 | Urinary Albumin Excretion Rate | Urine |
485 | Urine Albumin (Direct) | Urine |
486 | Urine Albumin/Creatinine Ratio (ACR) | Urine |
487 | Urine Calcium (Direct) | Urine |
488 | Urine Chloride | Urine |
489 | Urine for AFB | Urine |
490 | Urine for Culture and Sensitivities | Urine |
491 | Urine for GC | Urine |
492 | Urine for TB-PCR | Urine |
493 | Urine Potassium | Urine |
494 | Urine Protein Creatinine ratio (PCR) | Urine |
495 | Urine Sodium | Urine |
496 | Vanilmandelic Acid (VMA) | 24 Hrs Urine |
497 | Varicella zoster Virus Abs, IgG VZV | Serum |
498 | Varicella zoster Virus Abs, IgM VZV | Serum |
499 | Vasopressin (Antidiuretic Hormone) | Plasma [EDTA] & Serum |
500 | VCA [EBV][Epstein Barr Virus Capsid Antigens Antibodies, IgG | Serum |
501 | VCA [EBV][Epstein Barr Virus Capsid Antigens Antibodies, IgM] | Serum |
502 | VDRL [Syphilis] | Serum |
503 | Vitamin B12 | Serum |
504 | Vitamin D (1,25-Dihydroxycholecalciferol) | Serum |
505 | Vitamin D3 (25-Hydroxycholecalciferol) | Serum |
506 | VLDL [Very Low Density Lipoprotein] | Serum |
507 | VMA [Vanilmandelic Acid] | 24 Hrs Urine |
508 | VWF [Von Willibrand][Factor VIII Related Ag] | Plasma [Sodium Citrate] |
509 | WBC Differential Count | Whole Blood [EDTA] |
510 | White Blood Cell Count (Leucocyte count ) | Whole Blood [EDTA] |
511 | Widal Test (Salmonella typhi IgG/IgM) | Serum |
512 | Wound for Culture and Sensitivities | Swab |
513 | Y- Chromosome Microdeletion, PCR | Whole Blood [EDTA] |
514 | Zinc | Serum |
515 | Zinc | 24 Hrs Urine |
NO. | TEST NAME | SAMPLE TYPE |
---|---|---|
1 | 17-Hydroxypregnenolone | 24 Hrs Urine |
2 | 17-OHP [17-Hydroxyprogesterone] | Serum |
3 | 5-HIAA [5-Hydroxyindole Acetic Acid] | 24 Hrs Urine |
4 | ACE [Angiotensin Converting Enzyme] Level | Serum |
5 | ACHR [Acetylcholine Receptor] Antibodies, Quantitative | Serum |
6 | ACTH [Adrenocorticotropic Hormone] | Serum |
7 | Activated Protein C Resistance, PCR | Plasma [Sodium Citrate] |
8 | Activated Protein C Resistance, PCR | Whole Blood [EDTA] |
9 | Adenovirus | |
10 | ADH [Anti-diuretic Hormone] [Vasopressin] | Plasma [EDTA] & Serum |
11 | AFB Smear | Body fluid |
12 | AFB Smear | Sputum |
13 | AFP [Alpha Fetoprotein] | Serum |
14 | Albumin | Serum |
15 | Aldolase | Serum |
16 | Aldosterone level | 24 Hrs Urine |
17 | Aldosterone level [Supine] | Serum |
18 | Aldosterone level [Up right] | Serum |
19 | Aldosterone/Renin Ratio (Supine) [ARR] | |
20 | Aldosterone/Renin Ratio (Up right) [ARR] | |
21 | Alkaline Phosphatase Iso-enzymes | Serum |
22 | Allergy, Food Panel [30 Allergens] | Serum |
23 | Allergy, Paediatric Panel [30 Allergens] | Serum |
24 | Allergy, Respiratory Panel [30 Allergens] | Serum |
25 | ALP [Alkaline Phosphatase] | Serum |
26 | Alpha Thalassemia Trait | Whole Blood [EDTA] |
27 | ALT [Alanine Aminotransferase] [GPT] | Serum |
28 | AMA [Anti Mitochondrial Antibody] | Serum |
29 | AMH [Anti Mullerian Hormone] | Serum |
30 | Amylase | 24 Hrs Urine |
31 | Amylase | Spot Urine |
32 | Amylase | Body Fluid |
33 | Amylase | Serum |
34 | ANA [Anti-Nuclear Antibody] | Serum |
35 | ANA Latex | Serum |
36 | ANA- Profile (All Profiles) | Serum |
37 | ANA- Profile: | Serum |
AIH [Autoimmune Hepatitis] [LKM1 Abs, LC1 Abs, SLA Abs, F-actin Abs] | ||
38 | ANA- Profile: | Serum |
Autoimmune Gastritis [IF (intrinsic factor), PCA (Parietal Cell Antibodies)] | ||
39 | ANA- Profile: | Serum |
Celiac Disease [Anti-gliadin Abs, Anti-tTG Abs] | ||
40 | ANA- Profile: | Serum |
Goodpasture syndrome [GBM (Glomerular Basement Membrane)] | ||
41 | ANA- Profile: | Serum |
Milk intolerance [ß-Lactoglobulin Abs] | ||
42 | ANA- Profile: | Serum |
PBC [Primary Biliary Cirrhosis] [M2 Abs, M2/PDC-E2, M2/BCO ADC-E2, M2/OGDC-E2, gp210, sp100] | ||
43 | ANA- Profile: | Serum |
Polymyositis/Dermatomyositis and Scleroderma [Jo-1 Abs, PL-7 & PL-12 Abs, EJ, OJ, KS, HA, ZO, SRP Abs, MDA-5 Abs, Anti-TIF1-l Abs, Mi-2 Abs, HMGCR Abs, SAE Abs, NXP-2 Abs, PM-Scl Abs, Ku Abs, Scl-70 Abs, RNA polymerase III Abs, Th/To, Anti-Fibrillarin Abs, NOR-90] | ||
44 | ANA- Profile: | Serum |
Sharp Syndrome [RNP Abs, Sm/RNP Abs] | ||
45 | ANA- Profile: | Serum |
Sjogrens Syndrome [Anti-SSA, TRIM21, SSB Abs] | ||
46 | ANA- Profile: | Serum |
SLE [Systemic Lupus Erythromatosus] [ds-DNA Abs, Histone Protein, Nucleosome Abs, Sm Abs, Ribosome P protein (RPP) Abs, PCNA, Centromere Abs] | ||
47 | ANA- Profile: | Serum |
Vasculitis syndrome [Proteinase 3 (RP3), Myeloperoxidase MPO, C-ANCA, P-ANCA] | ||
48 | ANCA/PR3 [Antineutrophil Cytoplasmic Antibodies] | Serum |
49 | Androgen | Serum |
50 | Androstenedione | Serum |
51 | Anti- Chlamydia Antibodies, IgA | Serum |
52 | Anti- Chlamydia Antibodies, IgG | Serum |
53 | Anti- Chlamydia Antibodies, IgM | Serum |
54 | Anti-Cardiolipin Antibodies, IgG | Serum |
55 | Anti-Cardiolipin Antibodies, IgM | Serum |
56 | Anti-Endomysial Antibodies, IgA | Serum |
57 | Anti-Endomysial Antibodies, IgG | Serum |
58 | Anti-GAD [Glutamic Acid Decarboxylase Abs] [GADA] | Serum |
59 | Anti-HBc Ab [Hepatitis B Core Antibodies, IgM] | Serum |
60 | Anti-HBc Ab [Hepatitis B Core Antibodies, Total] | Serum |
61 | Anti-HBe Ab [Hepatitis B Envelope Antibodies] | Serum |
62 | Anti-HBs Ab [Hepatitis B Surface Antibody] titer | Serum |
63 | Anti-Insulin Antibodies | Serum |
64 | Anti-Intrinsic factor | Serum |
65 | Anti-La [Anti-SS-B Antibody] | Serum |
66 | Anti-Ro [Anti-SS-A Antibody] | Serum |
67 | Anti-Sm [Anti-Smith Antibodies] | Serum |
68 | Anti-Sperm Antibody | Serum |
69 | Anti-TG [Anti Thyroglobulin Antibodies] | Serum |
70 | Anti-Thrombin III | Plasma [Sodium Citrate] |
71 | Anti-TPO [Anti Thyroid Peroxidase Antibodies] | Serum |
72 | APCA [Anti Parietal Cell Antibodies] | Serum |
73 | aPTT [Activated Partial Thromboplastin Time] | Plasma [Sodium Citrate] |
74 | ASMA [Anti Smooth Muscle Abs] | Serum |
75 | ASO [Anti-Streptolysin O] | Serum |
76 | ASO [Anti-Streptolysin O] titer | Serum |
77 | AST [Aspartate Aminotransferase] [GOT] | Serum |
78 | BCR/ABL Translocation [BCR-ABL fusion-Gene] | Whole Blood [EDTA] |
79 | BCR/ABL Translocation [BCR-ABL fusion-Gene] | Whole Blood [Heparin] |
80 | Bence-Jones Protein | 24 Hrs Urine |
81 | Bence-Jones Protein | Spot Urine |
82 | Beta- Globin Gene, Beta- Thalassemia, PCR | Amniotic Fluid |
83 | Beta- Globin Gene, Beta- Thalassemia, PCR | Whole Blood [EDTA] |
86 | Beta-2 Glycoprotein Antibodies, IgG | Serum |
87 | Beta-2 Glycoprotein Antibodies, IgM | Serum |
88 | BFFM [Blood Film for Malaria] | Whole Blood [EDTA] |
89 | Bilirubin, Direct | Serum |
90 | Bilirubin, Indirect | Spot Urine |
91 | Bilirubin, Indirect | Serum |
92 | BK Virus, PCR Quantitative | |
93 | Bleeding Time | |
94 | Blood Culture (Identification & Sensitivity) | Whole Blood in Specialized Bottle |
95 | Blood Film | Whole Blood [EDTA] |
96 | Blood Group and Rh Typing | Whole Blood [EDTA] |
97 | Blood PH | Fresh Blood |
98 | Body Fluid Analysis [Cell Count & Chemical] | Body Fluid |
99 | Brucella Abs Total [2-Mercaptoethanol] [2-ME] | Serum |
100 | Brucella Antibodies, IgG | Serum |
101 | Brucella Antibodies, IgM | Serum |
102 | BUN [Blood Urea Nitrogen] | Serum |
103 | C3 [Complement 3] | Serum |
104 | C4 [Complement 4] | 1 ml Serum |
105 | CA 125 [Cancer Antigen 125] | Serum |
106 | CA 15-3 [Cancer Antigen 15-3] | Serum |
107 | CA 19-9 [Cancer Antigen 19-9] | Serum |
108 | CA 27-29 [Cancer Antigen 27-29] | Serum |
109 | Calcitonin | Serum |
110 | Calcium | 24 Hrs Urine |
111 | Calcium | Spot Urine |
112 | Calcium Total | Serum |
113 | Calcium, Ionised | Serum |
114 | Calcium/Creatinine | |
115 | Calprotectin | Stool |
116 | Catecholamines, Adrenaline [Epinephrine] | Plasma [EDTA] |
117 | Catecholamines, Adrenaline [Epinephrine] | 24 Hrs Urine |
118 | Catecholamines, Metanephrines | Plasma [EDTA] |
119 | Catecholamines, Metanephrines | 24 hrs Urine |
120 | Catecholamines, Noradrenaline [Norepinephrine] | Plasma [EDTA] |
121 | Catecholamines, Noradrenaline [Norepinephrine] | 24 Hrs Urine |
122 | Catecholamines, Normetanephrine | |
123 | Catecholamines, Normetanephrine | |
124 | Catecholamines, Total | 24 Hrs Urine |
126 | CBC [Complete Blood Count] | Whole Blood [EDTA] |
127 | CBP [Complete Blood Picture] | Whole Blood [EDTA] |
128 | CCP-Ab [Cyclic Citrullinated Peptide Antibodies] | Serum |
129 | CEA [Carcinoembryonic Antigen] | Serum |
131 | Cerebrospinal Fluid Analysis [Cell Count & Chemical] | CSF |
132 | Ceruloplasmin | Serum |
133 | CH50 [Complement Haemolytic Activity-50] | Serum |
134 | Chloride | Serum |
135 | Chloride | 24 Hrs Urine |
136 | Chloride | Spot Urine |
137 | Cholesterol, Total | Serum |
138 | Chromosomal analysis for Down syndrome | |
139 | Chromosomal Analysis for female abortion | |
140 | Chromosomal Karyotyping | Amniotic Fluid |
141 | Chromosomal Karyotyping | Chorrionic Villus Sample |
142 | Chromosomal Karyotyping, Fragile X Syndrome | Whole Blood [Heparin] |
143 | Chromosomal Karyotyping, Peripheral Blood | Whole Blood [Heparin] |
144 | Chromosomal Karyotyping, Products of Conception Abortus | |
145 | Citrate | 24 Hrs Urine |
146 | CK-MB [Creatine Kinase MB] | Serum |
147 | Clotting time | |
148 | CMV [Anti-Cytomegalovirus Antibody, IgG] | Serum |
149 | CMV [Anti-Cytomegalovirus Antibody, IgM] | Serum |
150 | CMV Qualitative, PCR | |
151 | CMV Quantitative, PCR | |
152 | Coombs Test, Direct [Anti-globulin] Test | Whole Blood [EDTA] |
153 | Coombs Test, Indirect (IAGT) | Serum |
154 | Copper | Serum |
155 | Copper | 24 Hrs Urine |
156 | Cortisol (Evening 4-8 pm) | Serum |
157 | Cortisol (Morning 7-10 am) | Serum |
158 | Cortisol, Free (24 Hour) | 24 Hrs Urine |
159 | Cortisol, Total | Spot Urine |
160 | Cortisol, Total (24 Hour) | 24 Hrs Urine |
161 | Cortisol, Total [Evening, Morning] | Serum |
162 | C-Peptide | Serum |
163 | CPK [Creatine Phosphokinase] | Serum |
164 | Creatine kinase | Serum |
165 | Creatinine | 24 Hrs Urine |
166 | Creatinine | Spot Urine |
167 | Creatinine | Serum |
168 | Creatinine clearance (CrCl) | 24 Hrs Urine & Serum |
169 | Cross Match | Whole Blood [EDTA] & Serum (Donor and Patient) |
170 | CRP [C-Reactive Protein] | Serum |
171 | CRP [C-Reactive Protein] Latex | Serum |
172 | CRP Ultrasensitive Latex | Serum |
173 | CSF for Culture and Sensitivity | CSF |
174 | Culture For Deep Wound | Swab |
175 | Cyclosporine (C0) | Whole Blood [EDTA] |
176 | Cyclosporine (C2) | Whole Blood [EDTA] |
177 | Cystic Fibrosis, PCR | Amniotic Fluid |
178 | Cystic Fibrosis, PCR | Whole Blood [EDTA] |
179 | Cystine, Qualitative | 24 Hrs Urine |
180 | Cytomegalovirus DNA , PCR Quantitative | Plasma [EDTA] |
181 | D-Dimer | Plasma [Sodium Citrate] |
182 | Dexamethasone Suppression test | Serum |
183 | DHEA-S [Dehydroepiandrosterone Sulphate] | Serum |
184 | DNA Analysis for TB (Tuberculosis), PCR | Urine |
185 | ds-DNA Abs, IgG (Anti-Double Strand DNA) | Serum |
186 | ds-DNA Abs, IgM (Anti-Double Strand DNA) | Serum |
187 | Ear Swab for Culture and Sensitivity | Swab |
188 | EBV [Epstein Barr Virus], PCR | Whole Blood [EDTA] |
189 | Echinococcus Antibody, IgG | Serum |
190 | Echovirus Antibody, IgG | Serum |
191 | EII [E2][Estradiol] | Serum |
192 | Electrolyte with Calcium (Ionized, Free) | |
193 | Electrolytes (Na, K, Cl) | Serum |
194 | Electrolytes (Na, K, Cl) | 24 hours Urine |
195 | Electrolytes (Na, K, Cl) | Spot Urine |
196 | ENA (Extractable Nuclear Antigens Antibodies, Full Panel) | Serum |
197 | EPO [Erythropoietin] | Serum |
198 | ESR [Erythrocyte Sedimentation Rate] | Sodium Citrate |
199 | Estriol, Free | Serum |
200 | Extended metabolic newborn screen | 4 Blood Drops on Card |
201 | Factor II | Plasma [Sodium Citrate] |
202 | Factor II or Prothrombine gene | Plasma [Sodium Citrate] |
203 | Factor II Prothrombin A Mutation, PCR | Whole Blood [EDTA] |
204 | Factor IX | |
205 | Factor IX | Plasma [Sodium Citrate] |
206 | Factor V | |
207 | Factor V | Plasma [Sodium Citrate] |
208 | Factor V Leiden | |
209 | Factor V R2 (H1299R) | |
210 | Factor VI | |
211 | Factor VII | |
212 | Factor VII | Plasma [Sodium Citrate] |
213 | Factor VIII | Plasma [Sodium Citrate] |
214 | Factor X | Plasma [Sodium Citrate] |
215 | Factor XI | Plasma [Sodium Citrate] |
216 | Factor XII | Plasma [Sodium Citrate] |
217 | Factor XIII | Plasma [Sodium Citrate] |
218 | Fasciola hepatice IgG | Serum |
219 | FDP [Fibrinogen Degradation Product] | Plasma [Sodium Citrate] |
220 | Ferritin | Serum |
221 | Fibrinogen | Plasma [Sodium Citrate] |
222 | Trisomy 13 | Whole Blood [EDTA] |
223 | Trisomy 13 | Amniotic Fluid |
224 | Trisomy 13, 18 | Whole Blood [EDTA] |
225 | Trisomy 13, 18 | Amniotic Fluid |
226 | Trisomy 13, 18 ,21 | Amniotic Fluid, Whole Blood [EDTA], Whole Blood [Heparin], CVS |
227 | Trisomy 18 | Whole Blood [EDTA] |
228 | Trisomy 18 | Amniotic Fluid |
229 | Trisomy 21 | Amniotic Fluid |
230 | Trisomy 21 | Whole Blood [EDTA] |
231 | Trisomy X, Y | Whole Blood [EDTA] |
232 | Trisomy X, Y | Amniotic Fluid |
233 | Trisomy X, Y, 21 | Whole Blood [EDTA] |
234 | Trisomy X, Y, 21 | Amniotic Fluid |
235 | Trisomy X, Y, 21, 13, 18 | Whole Blood [EDTA] |
236 | Trisomy X, Y, 21, 13, 18 | Amniotic Fluid |
238 | FMF Gene Mutation [Familial Mediterranean Fever], PCR | Whole Blood [EDTA] |
239 | FOB [Fecal Occult Blood] | Stool |
240 | Folate [Folic Acid] | Serum |
241 | Free PSA/Total PSA ratio | Serum |
242 | FSH [Follicle Stimulating Hormone] | Serum |
243 | F-T3 [Triiodothyronin, Free] | Serum |
244 | F-T4 [Thyroxine, Free] | Serum |
245 | G6PD [Glucose-6-Phosphate Dehydrogenase] | Whole Blood [EDTA] |
246 | GBM [Glomerular Basement Membrane Abs] | Serum |
247 | General Microscopy Examination | Sample Dependant |
248 | General Stool Examination | Stool |
249 | General Urine Examination | Urine |
250 | Gentamicin | Serum |
251 | GGT [Gamma Glutamyl Transferase] | Serum |
252 | GH [Growth Hormone], After Stimulation, Exercise | Serum |
253 | GH [Growth Hormone], Basal Level | Serum |
254 | Gliadin IgA | Serum |
255 | Gliadin IgG | Serum |
256 | Globulin | Serum |
257 | Glucose | Urine |
258 | Glucose | Body Fluid |
259 | Glucose | CSF |
260 | Glucose [Fasting] [Random] | Serum |
261 | Gram Stain | CSF or Swab |
262 | GTT [Glucose Tolerance Test] | Serum at Each Time Point |
263 | H.V.S for Culture and Sensitivities | Swab |
264 | Haemoglobin Electrophoresis, [HPLC] | Whole Blood [EDTA] |
265 | Hb [Haemoglobin] | Whole Blood [EDTA] |
266 | HbA1c [Haemoglobin A1c] [Glycosylated] | Whole Blood [EDTA] |
267 | HBe Ag [Hepatitis B Envelope Antigen] | Serum |
268 | HbH inclusion body | Whole Blood [EDTA] |
269 | HBs Ag [Hepatitis Bs Ag] | Serum |
270 | HBV [Hepatitis B Virus], PCR Quantitative | Serum |
271 | HCV Ab [Hepatitis C Virus Abs] | Serum |
274 | HDL [High Density Lipoprotein] | Serum |
275 | HDL [High Density Lipoprotein] | Serum |
276 | Helicobacter pylori Abs, IgA | Serum |
277 | Helicobacter pylori Abs, IgG | Serum |
278 | Helicobacter Pylori Ag | Stool |
279 | HAV [Hepatitis A Virus] Abs, IgM | Serum |
280 | HAV [Hepatitis A Virus] Abs, Total | Serum |
281 | HCV [Hepatitis C Virus] Genotyping, PCR | Serum |
282 | HCV [Hepatitis C Virus], PCR Quantitative | Serum |
283 | HSV I & II [Herpes Simplex Virus I & II] Abs, IgG | Serum |
284 | HSV I & II [Herpes Simplex Virus I & II] Abs, IgM | Serum |
285 | HEV [Hepatitis E virus], PCR | |
286 | H-FABP [Heart-fatty acid binding protein] | Serum |
287 | HIV I & II Abs | Serum |
288 | HLA 29 Typing | |
289 | HLA- ABC Tissue Typing | Whole Blood [EDTA] |
290 | HLA ABC-DR | Whole Blood [EDTA] |
291 | HLA ABDR (B7,B29,DR2,DR4) | Whole Blood [EDTA] |
292 | HLA B12 | Whole Blood [EDTA] |
293 | HLA- B27 | Whole Blood [EDTA] |
294 | HLA- B5 | Whole Blood [EDTA] |
295 | HLA B51,52 | Whole Blood [EDTA] |
296 | HLA class II DR | Whole Blood [EDTA] |
297 | HLA DQ2,8 | Whole Blood [EDTA] |
298 | HLA- DR Tissue Typing | Whole Blood [EDTA] |
299 | HLA lower level | Whole Blood [EDTA] |
300 | HLA Profiles (27-29-50-51-52-5-9-7-17-19) | Whole Blood [EDTA] |
301 | HLA Matching | Whole Blood [EDTA] |
302 | HLA ABC-DR,DQ | Whole Blood [EDTA] |
303 | HLA-DQ | Whole Blood [EDTA] |
304 | Homocysteine | Serum |
305 | HPV [Human Papillomavirus] Genotyping, PCR | Swab |
306 | HSV I & II [Herpes Simplex Virus I & II], PCR | |
307 | iFOB Test (FIT) | Stool |
308 | IGF-1 [Insulin-like Growth Factor-1] | Serum |
309 | IGF-PB3 (Insulin-like Growth Factor -1 Binding Protein 3) | Serum |
310 | IGRA for TB | Special Tube |
311 | IGRA for TB 1 IGRA for TB 2 | Special Tube |
312 | IL-6 [Interleukin-6] | Serum |
313 | Immunofexation Test | |
314 | IgA [Immunoglobulin A] | CSF |
315 | IgA [Immunoglobulin A] | Serum |
316 | IgE [Immunoglobulin E] | Serum |
317 | IgG [Immunoglobulin G] | Serum |
318 | IgG [Immunoglobulin G] | CSF |
319 | IgM [Immunoglobulin M] | Serum |
320 | IgM [Immunoglobulin M] | CSF |
321 | Inhibin A | Serum |
322 | Insulin | Serum |
323 | Insulin Tolerance Test, Per Sample | Serum at Each Time Point |
324 | Intrinsic Factor Blocking Abs | Serum |
325 | Iron | Serum |
327 | JAK2 Mutation ( V617F/G1849T ) | Whole Blood [EDTA] |
328 | Karyotype for sex chromosoms | |
329 | Lactate | Serum |
330 | Lactate | CSF |
331 | Lactose Tolerace Test | Serum at Each Time Point |
332 | Lambda Light Chain | 24 Hrs Urine |
333 | Lambda Light Chain | Serum |
334 | LDH [Lactate Dehydrogenase] | Serum |
335 | LDL [Low Density Lipoprotein] | Serum |
336 | Lead | Urine |
337 | LH [Luteinizing Hormone] | Serum |
338 | Lipase | Serum |
339 | Lithium | Serum |
340 | Liver Antigen Profile [LKM, SLA, M2, LC-1] | Serum |
341 | LKM Abs ( Liver Kidney Microsome ) | Serum |
342 | LP-PLA2 [Lipoprotein-Associated phospholipase A2] | Plasma [Sodium Citrate] |
343 | Lupus Anticoagulant | Plasma [Sodium Citrate] |
344 | Magnesium | Serum |
345 | Magnesium | 24 Hrs Urine |
347 | Microalbumin | 24 Hrs Urine |
Microalbumin | Spot Urine | |
348 | Microalbumin -Creatinine Ratio | 24 Hrs Urine |
349 | Mid Urine for Culture and Sensitivities | Urine |
350 | Milk for Culture and Sensitivities | Urine |
351 | Mitochondrial Abs (M2) | Serum |
352 | Monospot Test [Infectious Mononucleosis] | Serum |
353 | MTHFR (A1298C) | Whole Blood [EDTA] |
354 | MTHFR C677T Gene Mutation, PCR | Whole Blood [EDTA] |
355 | MTHFR Profile | Whole Blood [EDTA] |
356 | Mycobacterium Tuberculosis DNA, PCR | Body Fluids or Urine |
357 | MYO [Myoglobin] | Serum |
358 | Myoglobin, Quantitative | Spot Urine |
359 | Nasal Smear for Eosinophils | Nasal Fluid |
360 | NBT [Nitro Blue test] | Serum |
361 | Neonatal Screening Profile (1): TSH, G6PD, 17-OHP, IRT, Galactose, Haemoglobinopathies, Amino Acids, Fatty Acids, Organic Acids (45 Disorders ) | 4 Blood Drops on Card |
362 | NT-pro B-type Natriuretic Peptide [B-Type Natriuretic Peptide] [BNP] | Serum |
363 | Osmolality | Serum |
364 | Osmolality | Urine |
365 | Osmolality | 24 Hrs Urine Collection |
366 | Oxalate | 24 Hrs Urine Collection |
367 | Packed Cell Volume PCV | Whole Blood [EDTA] |
368 | PANCA/MPO | Serum |
369 | Pancreatic Langerhans Islet Cell Abs, IgG [Anti-Islet Cell Abs] | Serum |
370 | PAPP-a test (Pregnancy associated plasma protein-A) | Serum |
371 | Parvovirus (B-19) Abs, IgG | 1 ml Serum |
372 | PCT [Procalcitonin] | Serum |
373 | PCV% [Hematocrit](HCT) | Whole Blood [EDTA] |
374 | Periphral Blood Smear | Whole Blood [EDTA] |
375 | Philadelphia Chromosome, PCR | Whole Blood [EDTA] |
376 | Phospholipid Abs, IgG | Serum |
377 | Phospholipid Abs, IgM | Serum |
378 | Phosphorus | 24 Hrs Urine or Spot Urine |
379 | Phosphorus | Serum |
381 | Platelet Count | Whole Blood [EDTA] |
382 | PML-RarX | |
383 | Post Prandial Glucose [After 2 Hours] | Serum |
384 | Potassium | 24 Hrs Urine or Spot Urine |
385 | Potassium | Body Fluid |
386 | Potassium | Serum |
387 | Prenatal Interpretive (Down Syndrome) Open NTD & Trisomy 18 (First Trimester Screen) (PAPPA+FBHCG) | Serum |
388 | Progesterone | Serum |
389 | Pro-Insulin | Serum |
390 | Proinsulin (2 hr. Glucose admn.) | Serum |
391 | Proinsulin (30 min. Glucose admn.) | Serum |
392 | Prolactin | Serum |
393 | Protein C Assay | Plasma [Sodium Citrate] |
394 | Protein Electrophoresis | Serum |
395 | Protein Electrophoresis | Urine |
396 | Protein in body fluid | |
397 | Protein in C.S.F | |
398 | Protein S [Free] | Plasma [Sodium Citrate] |
399 | Protein S Assay | Plasma [Sodium Citrate] |
400 | Proteinase 3 Abs | Serum |
401 | Prothrombin G20210A Mutation, PCR | Whole Blood [EDTA] |
402 | Prothrombin gene mutation (Factor II) | |
403 | PSA [Prostatic-Specific Antigen], Free | Serum |
404 | PSA [Prostatic-Specific Antigen], Total | Serum |
405 | PT [Prothrombin Time][INR] | Plasma [Sodium Citrate] |
406 | PTH [Parathyroid Hormone] | Serum |
407 | PTT [Partial Thromboplastin Time] | Plasma [Sodium Citrate] |
408 | PUS for Culture and sensitivities | |
409 | Reducing substance | Urine or Stool |
410 | Renin ( Healthy donors supine position ) | Plasma [EDTA] |
411 | Renin ( Healthy donors up right position ) | Plasma [EDTA] |
412 | Renin Activity | Plasma [EDTA] |
413 | Reticulocyte Count | Whole Blood [EDTA] |
414 | Rheumatiod Factor Abs, IgA | Serum |
415 | Rheumatoid Factor | Synovial Fluid |
416 | Rheumatoid Factor Abs, IgG | Serum |
417 | Rheumatoid Factor Abs, IgM | Serum |
418 | Rose Bengal test | Serum |
420 | Rotavirus, Ag | Stool |
421 | RPR [Rapid Plasma Reagin] [Syphilis] | Serum |
422 | Rubella Abs, IgG | Serum |
423 | Rubella Abs, IgM | Serum |
424 | Semen fructose test | Seminal Fluid |
425 | Seminal Fluid Analysis | Seminal Fluid |
426 | Seminal for culture and Sensitivities | Seminal Fluid |
427 | SHBG [Sex Hormone Binding Globulin] | Serum |
428 | SLA [Soluble Liver Antigen] | Serum |
429 | Sodium | 24 Hrs Urine or Spot Urine |
430 | Sodium | Serum |
431 | Sodium | Body Fluids |
432 | Spot Urine Albumin | Spot Urine |
433 | Spot Urine Creatinine | Spot Urine |
434 | Spot Urine Protein | Spot Urine |
436 | Sputum for Culture and Sensitivities | Sputum |
437 | Sputum for TB | Sputum |
438 | ß-hCG | Urine |
439 | ß-hCG [Human Chorionic Gonadotropin, ß-Subunit] | Serum |
440 | Stone Analysis [Urinary Calculi analysis] | Renal Stone |
441 | Swab for Culture and Sensitivities | |
442 | Synovial Fluid Analysis | Synovial Fluid |
443 | T3-Free (Triiodothyronin, Free) | Serum |
444 | T4-Free (Thyroxine, Free) | Serum |
445 | Tacrolimus [Prograf] | Whole Blood [EDTA] |
446 | Testosterone, Free | Serum |
447 | Testosterone, Total | Serum |
448 | TG [Thyroglobulin] | Serum |
449 | Thrombin Abs | Plasma [Sodium Citrate] |
450 | Thrombin Time | Plasma [Sodium Citrate] |
451 | TIBC [Total Iron Binding Capacity] | Serum |
453 | Total Protein | Serum |
454 | Total Protein | Synovial Fluid |
455 | Total Protein | 24 Hrs Urine or Spot Urine |
456 | Total Protein | Body Fluid |
457 | Total Protein | CSF |
458 | Toxoplasma gondii Abs, IgG | Serum |
459 | Toxoplasma gondii Abs, IgM | Serum |
460 | TPHA (Treponema pallidum Hemagglutination)(Syphilis) | Serum |
461 | TRAB [Thyroid Stimulating Hormone Receptor Abs] | Serum |
462 | Transferrin | Serum |
463 | Transferrin Saturation ( TS% ) | Serum |
464 | Triglycerides | Serum |
465 | Troponin I | Serum |
466 | Troponin T | Whole Blood [Heparin] |
467 | TSB [Bilirubin, Total] | Serum |
468 | TSH [Thyroid Stimulating Hormone] | Serum |
469 | tTg Ab, IgA [Tissue Transglutaminase Ab, IgA] | Serum |
470 | tTg Ab, IgG [Tissue Transglutaminase Ab, IgG] | Serum |
471 | Tuberklin test | |
472 | Tyrosine | Plasma [EDTA] |
473 | UIBC | Serum |
474 | Urea | Serum |
475 | Urea | 24 Hrs Urine or Spot Urine |
476 | Urea Breath Test | |
477 | Urethral Discharge (Culture & Sensitivity) | Swab |
478 | Urethral Discharge (gram stain, GC ,microscopic examination) | Swab |
479 | Uric Acid | Serum |
480 | Uric Acid | 24 Hrs Urine or Spot Urine |
481 | Uric Acid | Synovial Fluid |
482 | Uric Acid | body fluid |
483 | Uric Acid | CSF |
484 | Urinary Albumin Excretion Rate | Urine |
485 | Urine Albumin (Direct) | Urine |
486 | Urine Albumin/Creatinine Ratio (ACR) | Urine |
487 | Urine Calcium (Direct) | Urine |
488 | Urine Chloride | Urine |
489 | Urine for AFB | Urine |
490 | Urine for Culture and Sensitivities | Urine |
491 | Urine for GC | Urine |
492 | Urine for TB-PCR | Urine |
493 | Urine Potassium | Urine |
494 | Urine Protein Creatinine ratio (PCR) | Urine |
495 | Urine Sodium | Urine |
496 | Vanilmandelic Acid (VMA) | 24 Hrs Urine |
497 | Varicella zoster Virus Abs, IgG VZV | Serum |
498 | Varicella zoster Virus Abs, IgM VZV | Serum |
499 | Vasopressin (Antidiuretic Hormone) | Plasma [EDTA] & Serum |
500 | VCA [EBV][Epstein Barr Virus Capsid Antigens Antibodies, IgG | Serum |
501 | VCA [EBV][Epstein Barr Virus Capsid Antigens Antibodies, IgM] | Serum |
502 | VDRL [Syphilis] | Serum |
503 | Vitamin B12 | Serum |
504 | Vitamin D (1,25-Dihydroxycholecalciferol) | Serum |
505 | Vitamin D3 (25-Hydroxycholecalciferol) | Serum |
506 | VLDL [Very Low Density Lipoprotein] | Serum |
507 | VMA [Vanilmandelic Acid] | 24 Hrs Urine |
508 | VWF [Von Willibrand][Factor VIII Related Ag] | Plasma [Sodium Citrate] |
509 | WBC Differential Count | Whole Blood [EDTA] |
510 | White Blood Cell Count (Leucocyte count ) | Whole Blood [EDTA] |
511 | Widal Test (Salmonella typhi IgG/IgM) | Serum |
512 | Wound for Culture and Sensitivities | Swab |
513 | Y- Chromosome Microdeletion, PCR | Whole Blood [EDTA] |
514 | Zinc | Serum |
515 | Zinc | 24 Hrs Urine |
No. | Description |
---|---|
1 | ADULT syndrome (TP63 gene) |
2 | Lipodystrophy, familial partial, 2 (LMNA gene) |
3 | Achalasia-addisonianism-alacrimia syndrome (AAAS gene) |
4 | Acrodermatitis enteropathica (SLC39A4 gene) |
5 | Al-Awadi /Raas-Rothschild Syndrome, Ulna and fibula, absence of, with sever limb deficiency (WNT7A Gene) |
6 | Alacrima, achalasia, and mental retardation syndrome (GMPPA gene) |
7 | Alstrom syndrome (ALMS1 gene) |
8 | ANOPHTHALMIA (ANOP3) (SOX2 gene) |
9 | Beckwith-Wiedemann syndrome (CDKN1C Gene) |
10 | Bjornstad syndrome (BCS1L gene) |
11 | Branchiooculofacial syndrome (TFAP2A gene) |
12 | Cockayne syndrome, type B (ERCC6 gene) |
13 | Coffin Siris syndrome (ARID1A gene) |
14 | Cornelia de Lange syndrome 1 (NIPBL gene) |
15 | Tooth agenesis/ Oligodontia/ Hypodontia (MSX1 gene) |
16 | Epstein syndrome, Fechtner syndrome (MYH9 gene) |
17 | Escobar syndrome (CHRNG gene) |
18 | Floating-Harbor syndrome (SRCAP gene) (31,32,33,34. Exons) |
19 | GRISCELLI SYNDROME, TYPE 1, 2, 3 (MYO5A, MLPH, RAB27A genes) |
20 | Hennekam lymphangiectasia-lymphedema syndrome (CCBE1 gene) |
21 | Telangiectasia, hereditary hemorrhagic, type 1 (ENG gene) |
22 | Hypoparathyroidism-retardation-dysmorphism syndrome (TBCE gene) |
23 | Holt-Oram syndrome (TBX5 gene) |
24 | Hutchinson-Gilford Progeria Syndrome (LMNA gene) |
25 | Kabuki syndrome (Kabuki Make-up syndrome) (MLL2 gene) |
26 | Heart-hand syndrome, Slovenian type (LMNA gene) |
27 | Cardiofaciocutaneous syndrome (BRAF gene) |
28 | Caudal regression syndrome - Sacral agenesis (VANGL1 gene) |
29 | KBG Syndrome (ANKRD11 gene) |
30 | Coenzyme Q10 deficiency (COQ9 gene) |
31 | Lymphedema-distichiasis syndrome (FOXC2 gene) |
32 | LEOPARD syndrome 1, Multiple lentigines syndrome (PTPN11 gene) |
33 | Malouf syndrome,cardiomyopathy, dilated, with hypergonadotropic hypogonadism (LMNA gene) |
34 | Mandibuloacral Dysplasia with type A lipodystrophy (LMNA gene) |
35 | Melnick-Needles syndrome (FLNA gene) (22. exon sequence analysis) |
36 | Microdeletion Syndrome probe mix (2p16 Microdeletion Syndrome, Langer Giedion Syndrome - 8q24, 9q22 Microdeletion Syndrome, WAGR Syndrome - 11p13, 15q24 Microdeletion Syndrome, 17q21 Microdeletion Syndrome) |
37 | Noonan syndrome (BRAF gene) |
38 | 3MC syndrome 2, Oculo-skletal-abdominal syndrome (COLEC11 gene) |
39 | Orofaciodigital syndrome 1 (OFD1 gene) |
40 | Perrault syndrome (HSD17B4 gene) |
41 | Peters-plus syndrome (B3GALTL gene) |
42 | Roberts syndrome (SC phocomelia syndrome) (ESCO2 gene) |
43 | Rubinstein Taybi syndrome (CREBBP gene) (MLPA) |
44 | Short syndrome (PIK3R1 gene) |
45 | Simpson-Golabi-Behmel syndrome, type 1 (GPC3 gene) |
46 | Treacher Collins syndrome 1 (TCOF1 gene) |
47 | Trichorhinophalangeal syndrome, type I (TRPS1 gene) |
48 | VACTERL Association with Hydrocephalus (VACTERL-H syndrome (PTEN gene) |
49 | Vici syndrome (EPG5 gene) |
50 | Waardenburg syndrome, type 1 (PAX3 gene) |
51 | WAGR Syndrome (PAX6 Geni) (MLPA) |
52 | Weill-Marchesani syndrome (ADAMTS10 gene) |
53 | Atypical Werner syndrome (LMNA gene) |
54 | Woodhouse - Sakati Syndrome (DCAF17 gene) |
55 | Xeroderma pigmentosum, type G (ERCC5 gene) |
56 | Cleft lip/ Cleft Palate (MSX1 gene) |
No | Description |
---|---|
1 | beta-hydroxylase deficiency/ Congenital adrenal hyperplasia (CYP11B1 Gene). |
2 | alpha-hydroxylase/17,20-lyase deficiency (CYP17A1 Gene) |
3 | beta-hydroxysteroid dehydrogenase 3 deficiency (HSD17B3 gene) |
4 | hydroxylase deficiency/ Congenital Adrenal Hyperplasia (CYP21A2 Gene) (MLPA gene) |
5 | DAX1 Gene |
6 | Familial Hyperinsulinemic Hypoglycemia |
7 | Hypophosphatemic rickets, autosomal dominant (FGF23) |
8 | Hypophosphatemic rickets, autosomal ressesive (DMP1) |
9 | Short stature (GHR gene) |
10 | Growth hormone deficiency (GH1) |
11 | De Morsier syndrome (HESX1 gene) |
12 | Denys-Drash syndrome (WT1 Gene) |
13 | DIABETES INSIPIDUS AND MELLITUS WITH OPTIC ATROPHY AND DEAFNESS; DIDMOAD (WFS1 Gene) |
14 | Adult Hypophosphatasia (ALPL Gene) |
15 | Phosphoetanolaminuria (ALPL Gene) |
16 | Transient neonatal diabetes mellitus (KCNJ11 Gene) |
17 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (POR gene)(MLPA) |
18 | Glucocorticoid resistance (NR3C1 Gene) |
19 | Glucocorticoid deficiency 1, due to ACTH unresponsiveness (MC2R Gene) |
20 | Glucocorticoid deficiency 2, (MRAP gene) |
21 | Growth Hormone deficiency 1a, 1b, 2 (GH1) |
22 | Hypercalcemia, infantile (CYP24A1 Gene) |
23 | Hypoaldesteronism (CYP11B2 Gene) |
24 | Adult Hypophosphatasia (ALPL Gene) |
25 | Hypophosphatemic rickets, autosomal dominant (FGF23 gene) |
26 | Hypocalcemia, autosomal dominant (CASR gene) |
27 | IPEX syndrome (Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (FOXP3 gene) |
28 | Idiopathic familial short stature (OMIM-300582) (SHOX gene) |
29 | Permanent neonatal diabetes mellitus |
30 | Campomelic dysplasia (SOX9 Gene) |
31 | Leprechaunism (Donohue syndrome) (INSR Gene) |
32 | Leptin receptor deficiency (LEPR gene) |
33 | Liddle syndrome (SCNN1B gene) |
34 | Liddle syndrome (SCNN1B, SCNN1G gene) |
35 | Lipoid adrenal hyperplasia (STAR gene) |
36 | Hypoglycemia of infancy, leucine-sensitive (ABCC8 (SUR1) Gene) |
37 | Luteinizing hormone/choriogonadotropin receptor (LHCGR Gene) |
38 | McCune-Albright syndrome (GNAS Gene) (MOSAICISM SCREENING) |
39 | Mental retardation, X-linked, with isolated growth hormone deficiency (SOX3 gene... |
40 | MODY panel (11 genes) (HNF4A, GCK, HNF1A, PDx 1, HNF1B, NEUROD1, KLF11, CEL, PAx 4, INS, BLK Genes) |
41 | Pituitary hormone deficiency, combined, 3 (LHX3 gene) |
42 | Diabetes insipidus, nephrogenic (AQP2 gene) |
43 | Odontohypophosphatasia (ALPL Gene) |
44 | Autoimmune polyendocrinopathy syndrome , type 1, with or without reversible metaphyseal dysplasia (AIRE gene) |
45 | Obesity, autosomal dominant (MC4R gene) |
46 | Ovarian dysgenesis 1 (FSHR gene) |
47 | Panhypopituitarism, X-linked (SOX3 gene) |
48 | Proopiomelanocortin Deficiency - Obesity, Early-Onset, Adrenal Insufficiency, and Red Hair (POMC Gene) |
49 | Proprotein convertase 1 / 3 deficiency (PCSK1 Gene) |
50 | Pseudovitamine D deficient rickets (CYP27B1 Gene) |
51 | Rabson-Mendenhall syndrome (INSR Gene) |
52 | Russel-Silver syndrome (IC1 region-H19 metilation analysis/ Uniparental disomy) |
53 | Septooptic dysplasia (HESX1 gene) |
54 | Disordered steroidogenesis due to cytochrome P450 oxidoreductase (POR gene) |
55 | SRY gene |
56 | Rickets, vitamin D-resistant, type 2A (VDR Gene) |
57 | X-linked dominant hypophosphatemic rickets (PHEX Gene) |
No. | Description |
---|---|
1 | Adrenoleukodystrophy (ALD) (ABCD1 Gene) |
2 | Adrenomyeloneuropathy (ABCD1 Gene) |
3 | Aicardi-Goutieres syndrome 1, dominant and recessive (TREX1 gene) |
4 | Insomnia, familial fatal (PRNP gene) |
5 | Familial Hemiplegic Migraine, type 1 (CACNA1A gene) |
6 | Encephalopathy, acute, infection-induced, 3 (RANBP2 gene) |
7 | Alexander disease (GFAP Gene) |
8 | Alternating hemiplegia of childhood 1 (ATP1A2 gene) |
9 | Amyotrophic lateral sclerosis (SOD1 Gene) |
10 | Ataxia oculomotor apraxia (APTX gene) |
11 | Ataxia-telangiectasia (ATM gene |
12 | Atypical Rett syndrome (CDKL5 gene) (MLPA) |
13 | Seizures, benign neonatal, 1 (KCNQ2 gene) |
14 | Brain Malformation, WDR62-Related (WDR62 Gene) |
15 | Brown-Vialetto-Van Laere Syndrome type 1 (SLC52A3 gene) |
16 | Cadasil syndrome (NOTCH3 Gene) |
17 | Charcot-Marie-Tooth disease type 1A (PMP22 Gene) Duplication test(MLPA) |
18 | CLN-neuronal ceroid lipofuscinosis (KCTD7 gene) |
19 | Creutzfeldt Jacob Disease (PRNP gene) |
20 | Cold-induced sweating syndrome 1 (CRLF1 gene) |
21 | Currarino syndrome (MNX1 gene) |
22 | Giant axonal neuropathy-1 (GAN gene) |
23 | Dystonia-1, torsion (TOR1A gene) |
24 | Dravet syndrome (SCN1A gene) (All coding exons - Sequence analysis) |
25 | Infantile Spasms, epilepsy (CDKL5 Gene) |
26 | Epileptic encephalopathy, early infantile, 7 (KCNQ2 gene) |
27 | Episodic ataxia, type 2 (CACNA1A gene) |
28 | Episodic kinesigenic dyskinesia 1 (PRRT2 gene) |
29 | Epileptic encephalopathy, early infantile (ARX, CDKL5, KCNQ1, SCN1A, STXBP1, SLC25A22, PCDH19 genes |
30 | Early Infantile Epileptic Encephalopathy type 1 (ARX gene) |
31 | Gerstmann-Straussler Disease (PRNP gene) |
32 | Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) (PMP22 gene) Deletion/duplication |
33 | Hereditary hyperekplexia (ARHGEF9 gene) |
34 | Leukodystrophy, hypomyelinating, 6 (TUBB4A gene) |
35 | Holoprosencephaly-3 (SHH gene) |
36 | Holoprosencephaly duplication deletion panel (PTCH, SHH, ZIC2, SIX3, TGIF TMEM1, FBXW11 |
37 | Huntington disease-like 1 (PRNP gene) |
38 | SCN1A-Related Intractable Infantile Partial Seizures (SCN1A gene) |
39 | Infantile Neuroaxonal Dystrophy/Hallervorden-Spatz Syndrome (PLA2G6 /PANK2 genes |
40 | Infantile spasms, X-Linked (ARX gene) |
41 | SCN1B-Related Generalized Epilepsy with Febrile Seizures Plus (SCN1B gene) |
42 | Karak syndrome (PLA2G6 gene) |
43 | Insensitivity to pain, congenital, with anhidrosis, CIPA (NTRK1 gene) |
44 | Congenital disorder of glycosylation, type Ia (PMM2 gene) |
45 | Central hypoventilation syndrome (PHOX2B gene) |
46 | Craniofacial dysmorphism - skeletal anomalies - mental retardation syndrome (TMCO 1 gene) |
47 | Leigh syndrome (BCS1L gene) |
48 | Lesch-Nyhan syndrome (HPRT gene) |
49 | Leukoencephalopathy with vanishing white matter (EIF2B1 gene) |
50 | X-Linked Lissencephaly with Ambiguous Genitalia (ARX gene) |
51 | Lowe syndrome (OCRL1 gene) |
52 | Macrocephaly/Autism Syndrome (PTEN gen) |
53 | Marinesco-Sjogren Syndrome (SIL1 gene) |
54 | MEF2C- Related Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations |
55 | Megalencephalic leukoencephalopathy with subcortical cysts (MLC1 gene) |
56 | MELAS syndrome (M?tochondrial myopaty, encephalopathy, lactic acidosis and stroke like episodes |
57 | Mitochondrial Respiratory Chain Complex I Deficiency (NDUFV1 gene) |
58 | Mitochondrial neurogastrointestinal encephalopathy syndrome (TYMP gene) |
59 | Myotonia Congenita - Autosomal Recessive and Autosomal Dominant (CLCN1 gene) |
60 | Mental retardation, X-linked (ARX gene) ( |
61 | Neuroblastoma with Hirschsprung disease (PHOX2B gene) |
62 | Neurofibromatosis, type 1 (NF1 gene) (MLPA) |
63 | Oculocerebrorenal Syndrome, Lowe syndrome (OCRL1 gene) |
64 | Partington X-Linked Mental Retardation Syndrome (ARX gene) |
65 | Hypokalemic periodic paralysis, type 1 (CACNA1S gene) |
66 | Porencephaly 1 (COL4A1 Gene) |
67 | Pyridoxine-Dependent Epilepsy (ALDH7A1 gene) |
68 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformation |
69 | Prion disease with protracted course (Spongiform Encephalopathy with Neuropsychiatric features |
70 | Progressive external ophthalmoplegia, autosomal dominant, autosomal recessive, (POLG gene) |
71 | Myoclonic epilepsy of Unverricht and Lundborg (EPM1 gene) |
72 | Pseudo - TORCH syndrome (OCLN gene) |
73 | Segawa syndrome, recessive (TH gene) |
74 | Sepiapterin Reductase Deficiency (SPR Gene) |
75 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) |
76 | Infantile Spasm Syndrome, X-Linked (CDKL5 gene) |
77 | Myoglobinuria, acute recurrent (LPIN1 gene) |
78 | Bethlem myopathy/ Ullrich congenital muscular dystrophy (COL6A3 genes) |
79 | CAP myopathy (TPM3 gene) |
80 | Duchenne Muscular Dystrophy (Dystrophin gene) (Deletion/duplication analysis) |
81 | Emery-Dreifuss Muscular Dystrophy 2, AD (LMNA gene) |
82 | Myasthenic syndrome, slow-channel congenital (CHRNA1 gene) |
83 | Myasthenia gravis, neonatal transient (CHRNG gene) |
84 | Myotubular myopathy, X-linked (MTM1 gene) |
85 | Myotonic dystrophy type 1 (DMPK gene) (CTG Repeat Analysis) |
86 | Nonaka myopathy (GNE gene) |
87 | Oculopharyngeal muscular dystrophy (PABPN1gene) |
88 | Rippling muscle disease (CAV3 genie) |
89 | Spinal Muscular Atrophy (SMN1 and SMN2 genes) (Deletion analysis) |
90 | Myopathy, distal, Tateyama type (CAV3 gene) |
91 | All Mitochoondrial Deletion Duplication (Kearns-Sayre Syndrome (KSS), Leigh Syndro, Pearson Syndrome, Progressive External Ophthalmoplegia (PEO)) (MLPA) |
No. | Description |
---|---|
1 | Familial Hybernian(periodic) Fever (TRAPS: Tumor necrosis factor pathway related periodic syndrome) (TNFRSF1A Gene) |
2 | Familial Cold Autoinflammatory Syndrome 1 (NLRP3 gene) |
3 | Familial cold autoinflammatory syndrome 2 (NLRP12 gene) |
4 | Angioedema, hereditary type 1 and type 2 (SERPING1 gene) (SERPING1 gene) (MLPA) |
5 | Angioedema, hereditary type 1 and type 2 (SERPING1 gene) |
6 | Angioedema, hereditary, type 3 (F12 gene) |
7 | CIAS1 (Familial Cold Autoinflammatory Syndrome 1, MWS: Muckle-Wells syndrome, CINCA: Chronic Infantile Neurological Cutaneous and Articular Syndrome) (NLRP3 gene) |
8 | Factor X12 deficiency (F12 gene) |
9 | FMF (Familial Mediterranean Fever) (12 frequent mutations) |
10 | FMF (Familial Mediterranean Fever) (MEFV Gene) |
11 | Hyper-IgD syndrome (MVK Gene) |
12 | Crioprin associated periodic fever syndrome (NLRP3 gene) |
13 | Chronic Infantile Neurological Cutaneous and Articular Syndrome (CINCA) (NLRP3 gene) |
14 | Muckle-Wells syndrome, CINCA (NLRP3 gene) |
15 | Autoinflamatory disease panel (FMF-MEFV, NLRP3, SERPING1, TNFRSF1A, MVK, PSTPIP1 genes) (PANEL) |
16 | PAPA: Pyogenic Sterile Artritis, Pyoderma gangrenosum, Acne related syndrome (PSTPIP1 Gene) |
17 | Pyogenic Sterile Artritis, Pyoderma gangrenosum, Acne related syndrome (PAPA) (PSTPIP1 Gene) |
18 | PSTPIP1 (PAPA: Pyogenic Sterile Artritis, Pyoderma gangrenosum, Acne related syndrome) |
19 | TNFRSF1A (TRAPS: Tumor necrosis factor pathway related periodic syndrome) (TNFRSF1A Gene) |
20 | TRAPS: Tumor necrosis factor pathway related periodic syndrome (TNFRSF1A Gene) |
21 | Blau syndrome (NOD2 gene) |
22 | Arthropathy, progressive pseudorheumatoid, of childhood (WISP3 gene) |
23 | HLA B27,HLA B5,HLA B51 |
24 | Sarcoidosis, early-onset (NOD2 gene) |
No. | Description |
---|---|
1 | Ectopia lentis, familial (FBN1 gene) |
2 | Ehlers-Danlos syndrome, type 4 (COL3A1 gene) |
3 | Contractural arachnodactyly, congenital (Beals syndrome) (FBN2 gene) |
4 | Loeys-Dietz syndrome, type 1A and 2A (TGFBR1 gene) |
5 | Marfan syndrome (FBN1 gene) |
6 | MASS syndrome (FBN1 gene) |
No. | Description |
---|---|
1 | 3-hydroxyacyl-CoA dehydrogenase deficiency (HADH Gene |
2 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency (3-methylcrotonylglycinuria type 1 |
3 | Abetalipoproteinemia (MTTP gene) |
4 | Adenylosuccinase deficiency (ADSL gene) |
5 | Adenine phosphoribosyltransferase deficiency (APRT geni) |
6 | Hypercholesterolemia, familial (LDLR gene) |
7 | Familial hypercholesterolemia with hyperlipemia, included (APOE gene) |
8 | Maple syrup urine disease (MSUD) (BCKDHA, BCKDHB, DBT Genes) |
9 | Acute Intermittant Porphyria (HMBS Gene) |
10 | Aldolase B deficiency/ ALDOB deficiency (ALDOB Gene) |
11 | Alpha-methylacetoacetic aciduria (Beta-ketothiolase deficiency) (ACAT1 gene). |
12 | Alpha-ketoglutarate dehydrogenase deficiency (OGDH gene) |
13 | Alkaptonuria (HGD gene) |
14 | Argininemia (ARG1 gene) |
15 | Argininosuccinate synthetase deficiency (ASS1 Gene) |
16 | Argininosuccinic aciduria (ASL gene) |
17 | Arylsulphatase A deficiency (Metachromatic Leukodystrophy) (ARSA Gene) |
18 | Arylsulphatase B deficiency (MPS6) (ARSB Gene) |
19 | Acid Beta glucosidase deficiency (Gaucher disease- Glucocerebrosidase deficiency (GBA gene) |
20 | Aspartoacethylase deficiency (Canavan disease) (ASPA Gene) |
21 | Biotinidase Defect (BTD Gene) |
22 | D-2-hydroxyglutaric aciduria 1 (D2HGDH Gene) |
23 | Dihydrolipoamide dehydrogenase deficiency (E3) (Pyruvate dehydrogenase E3 deficency) (DLD gene) |
24 | Porphyria, congenital erythropoietic (UROS gene) |
25 | Fabry disease- deletion/ duplication analysis (GLA Gene) (MLPA) |
26 | Fanconi-Bickel syndrome (SLC2A2 gene) |
27 | Farber disease/ lipogranulomatosis (Ceramidase deficiency/ Acid ceramidase deficiency) (ASAH1 gene) |
28 | Fazio-Londe disease (SLC52A3 geni) |
29 | Phenylketonuria (PAH Gene) |
30 | Sialuria-Finnish type, Salla disease (Infantile sialuria-Nana storage disorder-Sialic acid storage disorder) (SLC17A5 Gene) |
31 | Fish-eye disease (LCAT gene) |
32 | Phosphoglycerate dehydrogenase deficiency (PHGDH gene) |
33 | Fructose 1-6 Biphosphatase deficiency (FBP1 Gene) |
34 | Fucosidosis (FUCA1 Gene) |
35 | Fumarase deficiency (FH Gene) |
36 | Galactokinase deficiency (GALK1 Gene) |
37 | Krabbe disease, galactocerebrosidase deficiency (GALC gene) |
38 | Galactosialidosis (CTSA gene) |
39 | Galactose-1- phosphate uridil transpherase deficiency (Galactosemia GALT deficiency) (GALT Gene) |
40 | Galaktose epimerase deficiency (GALE gene) |
41 | Galactosemia type 2 (GALK1 Gene) |
42 | Glycogen storage disease (GAA, SLC37A4, G6PC, GYS2, AGL, GBE1, PHKA2, PHKB, PHKG2, PHKA1, PYGM, PYGL, PFKM, PGAM2, LDHA, ENO3, PGM1 genes) |
43 | Glycerol kinase deficiency (GK gene) |
44 | Glycine encephalopathy, nonketotic hyperglycinemia (AMT Gene) |
45 | Glut1 deficiency syndrome type 1 ve 2 (SLC2A1 Gene) (MLPA) |
46 | Glutaricaciduria - Glutaricacidemia type 2 (ETFA Gene) |
47 | GM1 Gangliosidosis type 1, 2 and 3 (GLB1 Gene) |
48 | GM2 Gangliosidosis type 1 Hexosaminidase A deficiency (HEXA Gene) |
49 | Gracile syndrome (BCS1L gene) |
50 | Holocarboxylase synthetase deficiency (HLCS gene) |
51 | Hawkinsinuria (HPD gene) |
52 | Hereditary hemochromatosis (HFE Gene) |
53 | Hyperalphalipoproteinemia (CETP gene) |
54 | Hyperhomocysteinemia/ homocystinuria cblE type (MTRR gene) |
55 | Hyperoxaluria, primary, type 1 (AGXT Gene) |
56 | Hyperprolinemia, type 2 (ALDH4A1 gene) |
57 | Hypertriglyceridemia (LIPI gene) |
58 | Hypoxanthine-Guanine Phosphoribosyl transferase Deficiency (HPRT gene) |
59 | HMG-CoA lyase deficiency (HMGCL Gene) |
60 | HMG-CoA synthase-2 deficiency (HMGCS2 Gene) |
61 | Homocystinuria, B6-responsive and nonresponsive types, cystathionine beta-synthase defect related (CBS Gene) |
62 | Isovaleric acidemia (IVD Gene) |
63 | Carbamoylphosphate synthetase I deficiency (CPS1 gene) |
64 | CPT deficiency, hepatic, type 2 (CPT2 gene) |
65 | Short-Chain Acyl-Coa dehydrogenase deficiency (ACADS Gene) |
66 | Cholesteryl ester storage disease (Wolman disease) (LIPA gene) |
67 | Combined oxidative phosphorylation deficiency 12 (EARS2 gene) |
68 | Congenital Generalized Lipodystrophy type 1 (of Berardinell-Seip syndrome type 1) (AGPAT2 gene) |
69 | Creatine deficiency syndrome, X-linked (SLC6A8 Gene) |
70 | L-2-hydroxyglutaric aciduria (L2HGDH Gene) |
71 | Lewy body dementia, susceptibility to (GBA Gene) |
72 | Lysinuric protein intolerance (SLC7A7 Gene) |
73 | Malonyl-CoA decarboxylase deficiency (MLYCD gene) |
74 | Menkes disease (ATP7A gene) |
75 | Metachromatic Leukodystrophy (Arylsulphatase A deficiency) (ARSA Gene) |
76 | Methylmalonic acidemia, (MMAA, MMAB, MUT Genes) |
77 | Mevalonic aciduria (MVK Gene) |
78 | Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 2 (TMEM70 gene) |
79 | Molybdenum cofactor deficiency type A (MOCS1 Gene) |
80 | Mucolipidosis type 1 (Neuroaminidase deficiency) (Sialidosis type 1 and 2) (NEU1 Gene) |
81 | Mucopolysaccharidosis Panel (IDUA, IDS, SGSH, NAGLU, HGSNAT, GNS, GALNS, GLB1, GUSB, HYAL1, ARSB) |
82 | Multiple carboxylase deficiency (BTD Gene) |
83 | Multiple sulfatase deficiency (SUMF1 Gene) |
84 | N-acetylglutamate synthase deficiency (NAGS Gene) |
85 | Neonatal intrahepatic cholestasis, Citrullinemia type 2 (Citrin deficiency) (SLC25A13 Gene) |
86 | Niemann Pick type A ve B (Sfingomiyenaz deficiency) (SMPD1 Gene) |
87 | Norum disease (LCAT gene) |
88 | Neutral lipid storage disease (ABHD5 gene) |
89 | Ornithine aminotransferase deficiency (OAT Gene) |
90 | Ornithine transcarbamylase deficiency -OTC deficiency (OTC Gene) |
91 | Medium-Chain Acyl-Coa dehydrogenase deficiency (ACADM Gene) |
92 | Pyroglutamic Aciduria (Glutathione synthetase deficiency) (GSS gene) |
93 | Pyruvate dehydrogenase E1-alpha deficiency (PDHA1 gene) |
94 | Pyruvate carboxylase deficiency (PCgene) |
95 | Pompe disease (GAA Gene) |
96 | Systemic primary carnitine deficiency (CDSP) (SLC22A5 Gene) |
97 | Propionic acidemia (PCCA gene) |
98 | QDPR deficiency (QDPR Gene) |
99 | Rhizomelic chondrodysplasia punctata, type 1 (PEX7 gene) |
100 | Rhizomelic chondrodysplasia punctata, type 1 (PEX7 gene) |
101 | Cerebral creatine deficiency syndrome 2 (GAMT Gene) |
102 | Cerebrotendinous xanthomatosis (CYP27A1 gene) |
103 | Cystinosis (CTNS Gene) |
104 | Cystinuria (SLC3A1 gene) |
105 | Citrullinemia type 1- Classic Citrullinemia (ASS1 Gene) |
106 | Smith-Lemli-Opitz syndrome (DHCR7 Gene) |
107 | Sorbitol Dehydrogenase deficiency (SORD Gene) |
108 | Succinyl CoA:3-oxoacid CoA transferase deficiency (OXCT1 gene) |
109 | Succinic semialdehyde dehydrogenase deficiency (ALDH5A1 Gene) |
110 | Sulfite oxidase deficiency (SUOX gene) |
111 | Tay Sachs disease (HEXA Gene) |
112 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) (SLC19A3 gene) |
113 | Tyrosinemia, type 1 (FAH Gene) |
114 | Transaldolase deficiency (TALDO1 gene) |
115 | Trimethylaminuria (FMO3 Gene)) |
116 | Long-chain acyl-CoA dehydrogenase deficiency (ACADL Gene) |
117 | Valproate Sensitivity (OTC Gene) |
118 | Von Gierke disease, Glycogen storage disease Ia (G6PC Gene) |
119 | Wilson disease (ATP7B Gene) |
120 | Zellweger syndrome, Peroxisome biogenesis disorder (HSD17B4 gene) |
Phenylketonuria, Gaucher Disease, Hurler Syndrome, Niemann-Pick Disease, Glucose-Galactose Malabsorption, Tay-Sachs Disease, Fabry Disease, Krabbe Disease, Galactosemia, Maple Syrup Urine Disease, Glycogen Storage Disease, Zellweger Syndrome, Adrenoleukodystrophy, Wilson Disease, Ornithine Transcarbamylase Deficiency, Hemochromatosis |
Exome Sequencing - Primary Immunodeficiency- Covering 576 genes Combined immunodeficiency, Dyskeratosis congenita, Pulmonary alveolar proteinosis, WHIM syndrome, Monogenic congential diarrhea, Monogenic autoinflammatory syndromes, Monogenic autoimmunity, Hyper IgM syndrome, Major histocompatibility complex class I and II deficiencies, Chronic mucocutaneous candidiasis, Familial cold autoinflammatory syndromes, Familial Mediterranean fever, Congenital neutropenia, Chronic granulomatous disease, Leukocyte adhesion deficiency, Agammaglobulinemia and hypogammaglobulinemia, Monogenic common variable immune deficiency, Hermansky-Pudlak syndrome, Herpes simplex encephalitis |
Exome Sequencing- Covering 207 genes for diseases that may manifest psychiatric symptoms X-linked adrenoleukodystrophy, Early-Onset Autosomal Dominant Alzheimer Disease, Alzheimer Disease, Amyotrophic Lateral Sclerosis 1, Frontotemporal Dementia, Motor Neuron Disease, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, Basal Ganglia Calcification, Cerebrotendinous xanthomatosis, Lujan-Fryns syndrome |
ExoSeq® Dev Phenylketonuria, Gaucher Disease, Hurler Syndrome, Niemann-Pick Disease, Glucose-Galactose Malabsorption, Tay-Sachs Disease, Fabry Disease, Krabbe Disease, Galactosemia, Maple Syrup Urine Disease, Glycogen Storage Disease, Zellweger Syndrome, Adrenoleukodystrophy, Wilson Disease, Ornithine Transcarbamylase Deficiency, Hemochromatosis Androgen insensitivity syndrome (AIS), Persistent Mullerian duct syndrome (PMDS), Congenital adrenal hyperplasia (CAH), 46,XY Disorders of Sex Development (46,XY DSD), 46,XX Disorders of Sex Development (46,XX DSD), 46,XY Complete Gonadal Dysgenesis (46,XY CGD), 46,XY Sex Reversal syndrome (46,XY SRS), Congenital adrenal hyperplasia (CAH), Combined pituitary hormone deficiency (CPHD), Kallmann syndrome, Peters-plus syndrome, STAR syndrome, Filippi syndrome, CHARGE syndrome, Methemoglobinemia and ambiguous genitalia, Fraser syndrome, Johanson-Blizzard syndrome Charcot-Marie-Tooth Disease (CMT), Hereditary Motor Neuropathy, Hereditary Sensory and Autonomic Neuropathy, Andermann Syndrome, Small Fiber Neuropathy, Riboflavin Transporter Deficiency Neuronopathy, Hereditary Transthyretin-Mediated Amyloidosis, Spinal Muscular Atrophy (SMA), Cowchock Syndrome, Familial Dysautonomia, Giant Axonal Neuropathy, Spinocerebellar Ataxia, Huntington's disease, Neurofibromatosis, Tourette's syndrome, Wilsons’s disease, Marfan Syndrome |
ExoSeq® NeuroMyo Duchenne Muscular Dystrophy, Beckers Muscular Dystrophy, Limb-Girdle Muscular Dystrophy, Spinal Muscular Atrophy, Charcot-Marie-Tooth Disorder, Facioscapulohumeral Dystrophy, Myotonic Dystrophy, Emery-Dreifuss Dystrophy, Congenital Dystrophies, Congenital Myopathies, Arthrogryposis Multiplex Congenita, Mitochondrial Myopathies, Hereditary Spastic Paraplegia, Amyotrophic Lateral Sclerosis, Myasthenia Gravis Charcot-Marie-Tooth Disease (CMT), Hereditary Motor Neuropathy, Hereditary Sensory and Autonomic Neuropathy, Andermann Syndrome, Small Fiber Neuropathy, Riboflavin Transporter Deficiency Neuronopathy, Hereditary Transthyretin-Mediated Amyloidosis, Spinal Muscular Atrophy (SMA), Cowchock Syndrome, Familial Dysautonomia, Giant Axonal Neuropathy, Spinocerebellar Ataxia, Huntington's disease, Neurofibromatosis, Tourette's syndrome, Wilsons’s disease |
ExoSeq® Ophthalmo 1. Microphthalmia, anophthalmia and coloboma 2. Complex strabismus 3. Cataract and lens associated disease 4. Retinal dystrophies 5. Optic atrophy 6. Albinism 7. Anterior segment dysgenesis including glaucoma 8. Retinitis Pigmentosa 9. Congenital Stationary Night Blindness 10. Achromatopsia |
Exome Sequencing - Cancer Predisposition - Covering 161 genes Hereditary Breast and Ovarian Cancer Syndrome, Lynch Syndrome, Familial Adenomatous Polyposis, Gardner Syndrome, Muir-Torre Syndrome, MYH-Associated Polyposis (MAP), Juvenile Polyposis Syndrome, Peutz-Jeghers Syndrome, Hereditary Diffuse Gastric Cancer Syndrome, Li-Fraumeni Syndrome, Cowden (PTEN) Hamartomas Syndrome, Von Hippel Lindau, Multiple Endocrine Neoplasia, Hereditary Pheochromocytoma and Paraganglioma Syndrome, Turcot Syndrome, Hereditary non-polyposis colorectal cancer and prostate cancer |
Exome Sequencing- Sudden Death - Covering 68 genes Long QT syndrome, Short QT syndrome, Familial atrial fibrillation, Brugada syndrome, Romano-Ward syndrome, Familial dilated cardiomyopathy, Familial hypertrophic cardiomyopathy, Familial thoracic aortic aneurysm and dissection, Hutchinson-Gilford syndrome, Sudden cardiac death syndrome, Tibial muscular dystrophy, Wolff-Parkinson-White pattern, Marfan Syndrome |
Exome Sequencing- Dermatological conditions- Covering 252 genes Ichthyosis and related disorders, Albinism, Xeroderma Pigmentosum, Hereditary Melanoma and Skin Cancer, Cutis Laxa, Neurofibromatosis, Palmoplantar Keratoderma, Ehlers-Danlo Syndrome, Ectodermal Dysplasia, Epidermolysis Bullosa, Progeria and Progeroid Syndromes, Dyskeratosis Congenita, Hereditary Acrodermatitis Enteropathica, Tuberous Sclerosis, Waardenburg Syndrome, Hermansky-Pudlack Syndrome, Pachyonychia Congenita, Adams-Oliver Syndrome, Marfan Syndrome |
ExoSeq® MNH Testicular Cancer Prostate Cancer Erectile dysfunction Hemophilia A Diabete |
ExoSeq® Fertility F Pituitary hormone deficiency, combined Premature ovarian failure Mullerian aplasia and hyperandrogenism Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete Oocyte maturation defect Ovarian dysgenesis Hypogonadotropic hypogonadism with or without anosmia Hand-foot-uterus syndrome Campomelic dysplasia with autosomal sex reversal 46,XY sex revers |
ExoSeq® Endo 1. Monogenic Diabetes (Comprehensive coverage) 2. Kallman Syndrome 3. Hypoglycemia and Hyperinsulinism 4. Premature Ovarian Failure 5. Maturity onset diabetes of the young (MODY) 6. Abnormal Genitalia/ Disorders of Sex Development 7. Congenital Adrenal Hyperplasia 8. Hyperlipidemia 9. Congenital Hypothyroidism and Thyroid Hormone Resistance 10. Glucocorticoid Deficiency 11. Hyperparathyroidism 12. Hypomagnesemi |
Exome Sequencing- Comprehensive Cardiac Disease- Covering 784 genes Hypertrophic Cardiomyopathy (HCM), Dilated Cardiomyopathy (DCM), Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), Restrictive Cardiomyopathy, Left Ventricular Non-Compaction Syndrome (LVNC), Long QT Syndrome (LQTS), Brugada Syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Short QT Syndrome (SQTS), Sudden Arrhythmic Death Syndrome (SADS), Jervell Lange-Nielsen syndrome, Marfan Syndrome |
Exome Sequencing- comprehensive inherited kidney diseases panel- Covering 327 genes Alport syndrome, Nephrotic Syndrome, Nephronophthisis, Polycystic kidney disease, Autosomal dominant polycystic kidney disease, Cystinosis, nephropathic, Denys-Drash syndrome, Glomerulopathy with fibronection deposits, Nail-Patella syndrome, Pierson syndrome |
Breast, Endometrial and other Gynaecological cancers Premature Ovarian Failure and Early Menopause Polycystic Ovary Syndrome (PCOS) Hypothalamic amenorrhea Higher risk of pregnancy loss Osteoporos |
ExoSeq® Fertility M Persistent Mullerian duct syndrome, type I Congenital bilateral absence of vas deferens, X-linked Waardenburg Syndrome Hypogonadotropic hypogonadism with or without anosmia Spermatogenic failure Wilms Tumor Spermatogenic failure, Y-linked, 2 46, XX sex reversal Cryptorchidism Androgen insensitivit |
ExoSeq® Autism |