CENTOGEN (Germany) & Intergenes (Turkey) Tests

CENTOGEN (Germany) & Intergenes (Turkey)
Tests

CENTOGEN - GERMANY

Oncology
Modal Title

Oncology

No.Description
11p/19q deletion analysis (FISH)
2Adenomatous polyposis coli (APC gene)
3Breast-ovarian cancer, familial, 1 (BRCA1 gene) (MLPA)
4ALK-Related Neuroblastoma Susceptibility (ALK Gene) (Exons 21-29)
5cKIT (Exon9,11,13,17)
6EGFR (FISH)
7Ewing sarcoma t(11:22) (FLI1/EWSR1) (FISH)
8HER2 Amplification (ERBB2 or NEU gene) (FISH)
9Hereditary Nonpolyposis Colorectal Cancer (MLH1 gene)
10IDH1 and IDH2 (IDH1 gene, codon 132 and IDH2 codon 172 mutations)
11Polyposis, juvenile intestinal (SMAD4 gene)
12Bladder cancer- UroVysion assay (FISH)
13Multiple endocrine neoplasia 1 (MEN1 gene)
14Neuroblastoma N-MYC (MYCN) (FISH)
15P53 Gene (TP53) (17p13.1) (FISH)
16Hypereosinophilic syndrome, (PDGFRA gene) (Exon12,18)
17RET protooncogene (Exon 10-11-13-14-15 and 16)
18Retinoblastoma (13q14) (FISH)
19ROS1 (FISH)
20TPMT polymorphisms (238 G>C, 460 G>A, 719 A>G) (Thioguanine Drug Metabolism)
21Von Hippel-Lindau syndrome (VHL gene)
22Acute myeloid leukemia, somatic, DNMT3A related
23DNMT3A
24Basal cell nevus syndrome
25PTCH1
26Basal cell nevus syndrome
27SUFU
28Basal cell nevus syndrome due to germline PTCH2 mutation
29PTCH2
30Beckwith-Wiedemann syndrome
31CDKN1C
32Beckwith-Wiedemann syndrome
33chr. 11p15
34Beckwith-Wiedemann syndrome
35H19
36Beckwith-Wiedemann syndrome
37KCNQ1OT1
38BRAF somatic Hotspot: c.1799T>A p.V600E
39BRAF, not available in the US
40BRAF, selective sequencing of exon 15
41BRAF
42Breast cancer, male, susceptibility to
43BRCA2
44Breast cancer, RINT1 related
45RINT1
46Breast cancer, susceptibility to
47BARD1
48Breast cancer, susceptibility to
49PALB2
50Breast cancer, susceptibility to
51RECQL
52Breast cancer, susceptibility to
53XRCC3
54Breast-ovarian cancer
55BRCA1
56Breast-ovarian cancer
57RAD51C
58Breast-ovarian cancer, familial, susceptibility to, type 4
59RAD51D
60Breast-ovarian cancer, familial, type 2
61BRCA2
62CALR, selective sequencing of exon 9
63CALR
64Carcinoid tumors, intestinal
65SDHD
66Carney complex type 1
67PRKAR1A
68Cell cycle disorder, CDC20 related
69CDC20
70Colorectal cancer, hereditary
71NRAS
72Colorectal cancer, hereditary nonpolyposis type 1
73MSH2
74Colorectal cancer, hereditary nonpolyposis type 2
75MLH1
76Colorectal cancer, hereditary nonpolyposis type 4
77PMS2
78Colorectal cancer, hereditary nonpolyposis type 5
79MSH6
80Colorectal cancer, hereditary nonpolyposis type 6
81TGFBR2
82Colorectal cancer, hereditary nonpolyposis type 7
83MLH3
84Colorectal cancer, hereditary nonpolyposis type 8
85EPCAM
86Colorectal cancer, hereditary, susceptibility to
87CCND1
88Cowden syndrome type 1
89PTEN
90Cowden syndrome type 3
91SDHD
92Cowden syndrome type 5
93PIK3CA
94Cowden syndrome type 6
95AKT1
96Cutaneous telangiectasia and cancer syndrome, familial
97ATR
98Cylindromatosis, familial
99CYLD
100Desmoid disease, hereditary
101APC
102EGFR somatic Hotspot: c.2573T>G, p.L858R
103EGFR, not available in the US
104EGFR, selective sequencing of exons 18-21
105EGFR
106Endometrial cancer, familial, MSH6 related
107MSH6
108Familial adenomatous polyposis coli
109APC
110Familial adenomatous polyposis type 2
111MUTYH
112Familial adenomatous polyposis type 3
113NTHL1
114Familial adenomatous polyposis type 4
115MSH3
116Gastric cancer, hereditary diffuse
117CDH1
118Gastrointestinal stromal tumor, familial
119KIT
120Glioblastoma type 3, susceptibility to, due to BRCA2 germline mutation
121BRCA2
122Granulomatous disease, chronic, autosomal recessive, cytochrome b- positive, type 1
123NCF1
124Hemangioma capillary infantile
125ANTXR1
126Hemangioma, capillary infantile, familial, susceptibility to
127KDR
128Hereditary breast and ovarian cancer syndrome, RAD50 related
129RAD50
130Hereditary Retinoblastoma
131RB1
132Hurthle cell thyroid carcinoma, due to germline NDUFA13 mutation
133NDUFA13
134IDH1, selective sequencing of exon 4
135IDH1
136IDH2, selective sequencing of exon 4
137IDH2
138JAK2, selective sequencing of exons 12, 14 and 16
139JAK2
140Juvenile myelomonocytic leukemia, due to CBL germline mutation
141CBL
142Juvenile polyposis syndrome
143BMPR1A
144Juvenile polyposis syndrome
145SMAD4
146Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
147SMAD4
148KIT, selective sequencing of exons 8, 9, 11, 13 and 17
149KIT
150KRAS somatic Hotspot: c.35G>A, p.G12D
151KRAS, not available in the US
152KRAS somatic Hotspot: c.35G>T p.G12V
153KRAS, not available in the US
154KRAS somatic Hotspot: c.38G>A, p.G13D
155KRAS, not available in the US
156KRAS, selective sequencing of exon 2 and 3
157KRAS
158Leukemia, acute lymphoblastic, susceptibility to, due to PAX5 germline mutation
159PAX5
160Leukemia, acute myelogenous
161JAK2
162Leukemia, acute myelogenous
163KRAS
164Leukemia, acute myeloid
165KIT
166Leukemia, acute myeloid
167RUNX1
168Leukemia, acute myeloid, somatic
169CEBPA
170Leukemia, acute promyelocytic, PL2F/RARA type
171ZBTB16
172Leukemia, juvenile myelomonocytic
173PTPN11
174Leukemia, lymphoblastic and myeloid, EZH2 related
175EZH2
176Leukemia, myeloid acute form, due to CEBPA germline mutation
177CEBPA
178Li-Fraumeni syndrome type 1
179TP53
180Li-Fraumeni syndrome type 2
181CHEK2
182Medulloblastoma, desmoplastic, familial
183SUFU
184Medulloblastoma, due to BRCA2 germline mutation
185BRCA2
186Melanoma and neural system tumor syndrome, familial
187CDKN2A
188Melanoma, cutaneous malignant
189MC1R
190Melanoma, cutaneous malignant
191MITF
192Melanoma, cutaneous malignant, familial
193CDKN2A
194Melanoma, cutaneous malignant, familial type 10, susceptibility to
195POT1
196Melanoma, cutaneous malignant, familial type 6, susceptibility to
197XRCC3
198Melanoma, cutaneous malignant, familial, CDK4 related
199CDK4
200Meningioma, familial, PDGFB related
201PDGFB
202Meningioma, familial, susceptibility to
203SMARCE1
204Meningioma, familial, susceptibility to
205SUFU
206Meningioma, MN1 deficiency related
207MN1
208Mismatch repair cancer syndrome
209MLH1
210Mismatch repair cancer syndrome
211MSH2
212Mismatch repair cancer syndrome
213MSH6
214Mismatch repair cancer syndrome
215PMS2
216MMR genes methylation analysis
217MMR genes
218MPL, selective sequencing of exon 10
219MPL
220Muir-Torre syndrome
221MLH1
222Muir-Torre syndrome
223MSH2
224Multiple endocrine neoplasia type 1, CDKN2B related
225CDKN2B
226Multiple endocrine neoplasia type 2A
227RET
228Multiple endocrine neoplasia type 2B
229RET
230Multiple endocrine neoplasia type 4
231CDKN1B
232Myelodysplastic syndrome, somatic
233TET2
234Myelofibrosis, somatic
235JAK2
236Myxoma, intracardiac
237PRKAR1A
238Neurofibromatosis type 1
239NF1
240Neurofibromatosis type 1 -like syndrome
241SPRED1
242Neurofibromatosis type 2
243NF2
244Nonpolyposis hereditary colon cancer, PMS1 related
245PMS1
246Nonsmall cell lung cancer, familial, susceptibility to
247EGFR
248NPM1, selective sequencing of exon 11
249NPM1
250NRAS somatic Hotspot: c.181C>A p.Q61K
251NRAS, not available in the US
252NRAS somatic Hotspot: c.182A>G, p.Q61R
253NRAS, not available in the US
254NRAS somatic Hotspot: c.34G>T, p.G12C
255NRAS, not available in the US
256NRAS somatic Hotspot: c.35G>A, p.G12D
257NRAS, not available in the US
258NRAS, selective sequencing of exons 2 and 3
259NRAS
260Pancreatic cancer type 2, susceptibility to
261BRCA2
262Pancreatic cancer type 3, susceptibility to
263PALB2
264Pancreatic cancer, susceptibility to, type 4
265BRCA1
266Pancreatic cancer/melanoma syndrome, familial
267CDKN2A
268Paraganglioma and gastric stromal sarcoma
269SDHD
270Paragangliomas type 1, with or without deafness
271SDHD
272Paragangliomas type 4
273SDHB
274Paragangliomas type 5
275SDHA
276PDGFRA, selective sequencing of exons 12, 14 and 18
277PDGFRA
278Peutz-Jeghers syndrome
279STK11
280Pheochromocytoma type 1
281SDHD
282Pheochromocytoma type 2
283SDHB
284Pheochromocytoma type 3
285SDHC
286Pheochromocytoma type 5
287SDHAF2
288Pheochromocytoma type 8
289TMEM127
290Pheochromocytoma type 9
291MAX
292Pituitary adenoma, ACTH-secreting, due to AIP germline mutation
293AIP
294Pituitary adenoma, growth hormone-secreting, due to AIP germline mutation
295AIP
296Pituitary adenoma, prolactin-secreting, due to AIP germline mutation
297AIP
298Pleuropulmonary blastoma
299DICER1
300Polycythemia vera, somatic
301JAK2
302Polyposis syndrome, hereditary mixed
303GREM1
304Polyposis syndrome, hereditary mixed type 2
305BMPR1A
306Prostate cancer
307BRCA2
308Prostate cancer
309STAG1
310Prostate cancer
311ZNF783
312Prostate cancer, familial, association with
313HOXB13
314Prostate cancer, hereditary type 1
315RNASEL
316Prostate cancer, hereditary type 2, susceptibility to
317ELAC2
318Renal cell carcinoma, due to HNF1A germline mutation
319HNF1A
320Renal cell carcinoma, papillary type 1, familial
321MET
322RET, selective sequencing of exons 5, 8, 10, 11 and 13-16
323RET
324Spiegler-Brooke syndrome
325CYLD
326Thrombocythemia type 3, somatic
327JAK2
328Thyroid cancer type 2, nonmedullary, susceptibility to
329SRGAP1
330Trichoepithelioma, multiple familial, type 1
331CYLD
332Tumor predisposition syndrome
333BAP1
334Tumor predisposition syndrome, ARL11 related
335ARL11
336Tylosis with esophageal cancer
337RHBDF2
338von Hippel-Lindau syndrome
339VHL
340Wilms tumor, familial, due to BRCA2 mutation
341BRCA2

Reproductive
Modal Title

Reproductive

No.Description
146,XX sex reversal type 1
2SRY
346,XY sex reversal type 8, modifier of
4AKR1C4
5Aromatase deficiency
6CYP19A1
7Azoospermia induced by Y chromosome microdeletions
8AZF region
9Congenital bilateral absence of vas deferens
10CFTR
11Cryptorchidism
12RXFP2
13Deafness and male infertility
14STRC
15Deafness and male infertility, CATSPER2 related
16CATSPER2
17Disorders of sex development with cleft palate
18FOXF2
19Follicle-stimulating hormone deficiency, isolated
20FSHB
21Guttmacher syndrome
22HOXA13
23Hand-foot-uterus syndrome
24HOXA13
25Hydatidiform mole
26NLRP7
27Hydatidiform mole, recurrent, type 2
28KHDC3L
29Hypogonadotropic hypogonadism
30KISS1
31Hypogonadotropic hypogonadism
32NSMF
33Hypogonadotropic hypogonadism type 6 with or without anosmia
34FGF8
35Hypogonadtropic hypogonadism type 14
36WDR11
37Hypospadias type 1, X-linked
38AR
39Hypospadias type 2, X-linked
40MAMLD1
41Leydig cell hypoplasia type 1
42LHCGR
43Oligo-astheno-teratozoospermia
44NANOS1
45Oocyte maturation defect
46ZP1
47Oogenesis dysfunction
48SOHLH1
49Ovarian dysgenesis type 1
50FSHR
51Ovarian dysgenesis type 2
52BMP15
53Persistent Mullerian duct syndrome type 1
54AMH
55Persistent Mullerian duct syndrome type 2
56AMHR2
57Preeclampsia/eclampsia type 5
58CORIN
59Pregnancy loss, recurrent, C4BPA related
60C4BPA
61Pseudohermaphroditism with gynecomastia
62HSD17B3
63SPGF4
64SYCP3
65SPGF5
66AURKC
67SPGF6
68SPATA16
69SPGF7
70CATSPER1
71SPGF8
72NR5A1
73SPGF9
74DPY19L2
75Testicular anomalies with or without congenital heart disease
76GATA4

Ophthalmology Single Gene
Modal Title

Ophthalmology Single Gene

No.Description
1matopsia type 2
2CNGA3
3Achromatopsia type 3
4CNGB3
5Achromatopsia type 4
6GNAT2
7Achromatopsia type 6
8PDE6H
9Aland Island eye disease
10CACNA1F
11Albinism, ocular type I, Nettleship-Falls type
12GPR143
13Albinism, oculocutaneous nonsyndromic
14SLC24A5
15Albinism, oculocutaneous type 1A
16TYR
17Albinism, oculocutaneous type 1B
18TYR
19Albinism, oculocutaneous type 2
20OCA2
21Albinism, oculocutaneous type 3
22TYRP1
23Albinism, oculocutaneous type 4
24SLC45A2
25Albinism, oculocutaneous type 5
26LRMDA
27Aniridia
28PAX6
29Anterior segment mesenchymal dysgenesis
30PITX3
31Bardet-Biedl syndrome type 14
32CEP290
33Bestrophinopathy
34BEST1
35Bietti crystalline corneoretinal dystrophy
36CYP4V2
37Blepharophimosis, epicanthus inversus, and ptosis
38FOXL2
39Blepharophimosis-ptosis-intellectual disability syndrome
40UBE3B
41Bothnia retinal dystrophy
42RLBP1
43Bradyopsia
44RGS9
45Bradyopsia
46RGS9BP
47Branchiootorenal syndrome type 1
48EYA1
49Branchiootorenal syndrome type 2
50SIX5
51Brittle cornea syndrome
52ZNF469
53Cataract 11, multiple types
54PITX3
55Cataract type 17, multiple types
56CRYBB1
57Cataract type 23
58CRYBA4
59Cataract type 41
60WFS1
61Cataract type 43
62UNC45B
63Cataract, autosomal dominant
64GCNT2
65Cataract, autosomal recessive congenital nuclear type 2
66CRYBB3
67Cataract, autosomal recessive congenital type 1
68CRYAA
69Cataract, autosomal recessive congenital type 2
70FYCO1
71Cataract, autosomal recessive congenital type 4
72TDRD7
73Cataract, autosomal recessive type 38
74AGK
75Cataract, congenital
76SORD
77Cataract, congenital, associated with Marinesco-Sjogren Syndrome
78SIL1
79Cataract, cortical pulverulent, late-onset
80LIM2
81Cataract, lamellar
82HSF4
83Cataract, posterior polar type 2
84CRYAB
85Cataract, pulverulent or cerulean, with or without microcornea
86MAF
87Cataract, X-linked
88NHS
89Cataract-microcornea syndrome
90GJA8
91Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
92IARS2
93Cerebellar-retinal degeneration, infantile
94ACO2
95Choroidal dystrophy, central areolar type 2
96PRPH2
97Coat plus syndrome
98CTC1
99Coloboma of optic nerve
100PAX6
101Coloboma, ocular, autosomal dominant
102PAX6
103Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
104YAP1
105Colobomatous microphthalmia
106TENM1
107Cone-rod dystrophy
108AIPL1
109Cone-rod dystrophy
110UNC119
111Cone-rod dystrophy type 11
112RAX2
113Cone-rod dystrophy type 12
114PROM1
115Cone-rod dystrophy type 13
116RPGRIP1
117Cone-rod dystrophy type 14
118GUCA1A
119Cone-rod dystrophy type 15
120CDHR1
121Cone-rod dystrophy type 17
122CD3G
123Cone-rod dystrophy type 2
124CRX
125Cone-rod dystrophy type 20
126POC1B
127Cone-rod dystrophy type 3
128ABCA4
129Cone-rod dystrophy type 4
130PDE6C
131Cone-rod dystrophy type 5
132PITPNM3
133Cone-rod dystrophy type 7
134RIMS1
135Cone-rod dystrophy type 9
136ADAM9
137Cone-rod dystrophy, C21orf2 related
138C21orf2
139Cone-rod dystrophy, X-linked type 3
140CACNA1F
141Corneal dystrophy, epithelial basement membrane
142TGFBI
143Corneal dystrophy, posterior polymorphous, type 1
144VSX1
145Corneal endothelial dystrophy type 2
146SLC4A11
147Corneal intraepithelial dyskeratosis and ectodermal dysplasia
148NLRP1
149Corneal opacification and other ocular anomalies
150PXDN
151Doyne honeycob retinal dystrophy
152EFEMP1
153Duane Retraction syndrome
154CHN1
155Duane Retraction syndrome
156SALL4
157Dyschromatosis symmetrica hereditaria
158ADAR
159Early onset glaucoma, phenotype modifier of, COL15A1 related
160COL15A1
161Ectopia lentis et pupillae
162ADAMTSL4
163Ectopia lentis, familial
164FBN1
165Ectopia lentis, isolated, autosomal recessive
166ADAMTSL4
167Exfoliation syndrome, susceptibility to
168LOXL1
169Exudative vitreoretinopathy
170FZD4
171Exudative vitreoretinopathy type 2
172NDP
173Exudative vitreoretinopathy type 5
174TSPAN12
175Fibrosis of extraocular muscles, congenital type 1
176KIF21A
177Fibrosis of extraocular muscles, congenital type 3a
178TUBB3
179Fleck retina, familial benign
180PLA2G5
181Foveal hypoplasia type 1
182PAX6
183Fundus albipunctatus
184PRPH2
185Fundus albipunctatus
186RDH5
187Gaze palsy, horizontal, with progressive scoliosis
188ROBO3
189Gillespie syndrome
190ITPR1
191Glaucoma, open angle type 1A
192MYOC
193Glaucoma, open angle type 1E
194OPTN
195Glaucoma, open angle type 1F
196ASB10
197Glaucoma, open angle type 1F
198NTF4
199Glaucoma, open angle type 1G
200WDR36
201Glaucoma, primary type 3A
202CYP1B1
203Glaucoma, primary type 3D
204LTBP2
205Gyrate atrophy of choroid and retina with or without ornithinemia
206OAT
207Hereditary Retinoblastoma
208RB1
209Hermansky Pudlak syndrome type 4
210HPS4
211Hermansky-Pudlak syndrome type 1
212HPS1
213Hermansky-Pudlak syndrome type 2
214AP3B1
215Hermansky-Pudlak syndrome type 3
216HPS3
217Hermansky-Pudlak syndrome type 5
218HPS5
219Hermansky-Pudlak syndrome type 6
220HPS6
221Hermansky-Pudlak syndrome type 7
222DTNBP1
223Hermansky-Pudlak syndrome type 8
224BLOC1S3
225Hyperferritinemia-cataract syndrome
226FTL
227Iridogoniodysgenesis type 1
228FOXC1
229Jalili syndrome
230CNNM4
231Keratoconus type 1
232VSX1
233Leber congenital amaurosis type 1
234GUCY2D
235Leber congenital amaurosis type 10
236CEP290
237Leber congenital amaurosis type 11
238IMPDH1
239Leber congenital amaurosis type 12
240RD3
241Leber congenital amaurosis type 16
242KCNJ13
243Leber congenital amaurosis type 17
244GDF6
245Leber congenital amaurosis type 3
246SPATA7
247Leber congenital amaurosis type 5
248LCA5
249Leber congenital amaurosis type 6
250RPGRIP1
251Leber congenital amaurosis type 7
252CRX
253Leber congenital amaurosis type 8
254CRB1
255Leber congenital amaurosis type 9
256NMNAT1
257Leber congenital amaurosis with myopathy
258DTHD1
259Leber optic atrophy
260MT-ATP6
261Leber optic atrophy
262MT-CO1
263Leber optic atrophy
264MT-CO3
265Leber optic atrophy
266MT-CYB
267Leber optic atrophy
268MT-ND1
269Leber optic atrophy
270MT-ND2
271Leber optic atrophy
272MT-ND4
273Leber optic atrophy
274MT-ND4L
275Leber optic atrophy
276MT-ND5
277Leber optic atrophy
278MT-ND6
279Macular degeneration, age-related type 11
280CST3
281Macular degeneration, age-related type 3
282FBLN5
283Macular degeneration, age-related type 6
284RAX2
285Macular degeneration, age-related type 8, association with
286ARMS2
287Macular degeneration, early-onset
288FBN2
289Macular dystrophy retinal type 2
290PROM1
291Macular dystrophy with central cone involvement
292MFSD8
293Macular dystrophy, BEST2-related
294BEST2
295Macular dystrophy, BEST3-related
296BEST3
297Macular dystrophy, BEST4-related
298BEST4
299Macular dystrophy, vitelliform
300BEST1
301Macular dystrophy, vitelliform
302PRPH2
303Mainzer Saldino syndrome
304IFT140
305Marshall syndrome
306COL11A1
307Megalocornea, X-linked
308CHRDL1
309MELAS syndrome, MT-TL1 related
310MT-TL1
311Microphthalmia syndromic type 2
312BCOR
313Microphthalmia syndromic type 3
314SOX2
315Microphthalmia syndromic type 5
316OTX2
317Microphthalmia syndromic type 6
318BMP4
319Microphthalmia syndromic type 6
320SIX6
321Microphthalmia syndromic type 7
322HCCS
323Microphthalmia syndromic type 8
324ALDH1A3
325Microphthalmia syndromic type 9
326STRA6
327Microphthalmia, isolated type 2
328VSX2
329Microphthalmia, isolated type 3
330RAX
331Microphthalmia, isolated type 4
332GDF6
333Microphthalmia, isolated type 5
334MFRP
335Microphthalmia, isolated type 6
336PRSS56
337Microphthalmia, isolated type 9
338GDF3
339Microphthalmia, isolated with coloboma type 3
340VSX2
341Microphthalmia, isolated with coloboma type 6, digenic
342GDF3
343Microphthalmia, isolated with coloboma type 6, digenic
344GDF6
345Microphthalmia, isolated with coloboma type 9
346TENM3
347Microphthalmia, syndromic type 1
348NAA10
349Microphthalmia, syndromic type 11
350VAX1
351Microphthalmia, VAX2 related
352VAX2
353Microspherophakia and/or megalocornea
354LTBP2
355Nance-Horan syndrome
356NHS
357Nanophthalmia type 2
358MFRP
359Night blindness type 1, congenital stationary, autosomal dominant
360RHO
361Night blindness, congenital stationar type 1B
362GRM6
363Night blindness, congenital stationar type 1C
364TRPM1
365Night blindness, congenital stationary type 1A
366NYX
367Night blindness, congenital stationary type 2A
368CACNA1F
369Night blindness, congenital stationary type 2B
370CABP4
371Night blindness, congenital stationary type 3
372GNAT1
373Night blindness, congenital stationary, autosomal dominant type 2
374PDE6B
375Night blindness, congenital stationary, type 1E
376GPR179
377Nonarteritic anterior ischemic optic neuropathy
378GP1BA
379Nystagmus type 1
380FRMD7
381Nystagmus type 6
382GPR143
383Occult macular dystrophy
384RP1L1
385Oguchi disease
386GRK1
387Oguchi disease
388SAG
389Ophthalmoplegia, isolated, MT-TN related
390MT-TN
391Optic atrophy type 1
392OPA1
393Optic atrophy type 3
394OPA3
395Optic atrophy type 7
396TMEM126A
397Optic atrophy type 9
398ACO2
399Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
400OPA1
401Patterned dystrophy of retinal pigment epithelium
402PRPH2
403Peters Anomaly
404CYP1B1
405Peters anomaly
406PAX6
407Peters Anomaly
408PITX2
409Peters-Plus syndrome
410B3GLCT
411Pigmented paravenous chorioretinal atrophy
412CRB1
413Plasminogen deficiency type 1
414PLG
415Progressive external ophthalmoplegia with mitochondrial deletions type 1, autosomal dominant
416POLG
417Progressive external ophthalmoplegia with mitochondrial deletions type 1, autosomal recessive
418POLG
419Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal recessive
420RNASEH1
421Progressive external ophthalmoplegia with mitochondrial deletions type 3, autosomal dominant
422TWNK
423Progressive external ophthalmoplegia with mitochondrial deletions type 4, autosomal dominant
424POLG2
425Progressive external ophthalmoplegia with mitochondrial deletions type 6, autosomal dominant
426DNA2
427Retinal cone dystrophy type 3B
428KCNV2
429Retinal cone dystrophy type 4
430CACNA2D4
431Retinal degeneration, late-onset, autosomal dominant
432C1QTNF5
433Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities
434ITM2B
435Retinal dystrophy, juvenile cataracts, and short stature syndrome
436RDH11
437Retinal nonattachment nonsyndromic congenital
438ATOH7
439Retinitis pigmentosa juvenile
440LRAT
441Retinitis pigmentosa SEMA4C related
442SEMA4C
443Retinitis pigmentosa type 1, autosomal dominant
444RP1
445Retinitis pigmentosa type 10, autosomal dominant
446IMPDH1
447Retinitis pigmentosa type 11, autosomal dominant
448PRPF31
449Retinitis pigmentosa type 12, autosomal recessive
450CRB1
451Retinitis pigmentosa type 13, autosomal dominant
452PRPF8
453Retinitis pigmentosa type 14, autosomal recessive
454TULP1
455Retinitis pigmentosa type 17, autosomal dominant
456CA4
457Retinitis pigmentosa type 18, autosomal dominant
458PRPF3
459Retinitis pigmentosa type 19, autosomal recessive
460ABCA4
461Retinitis pigmentosa type 2 X-linked
462RP2
463Retinitis pigmentosa type 20, autosomal recessive
464RPE65
465Retinitis pigmentosa type 23 X-linked
466OFD1
467Retinitis pigmentosa type 25
468EYS
469Retinitis pigmentosa type 26, autosomal recessive
470CERKL
471Retinitis pigmentosa type 27, autosomal dominant
472NRL
473Retinitis pigmentosa type 28, autosomal recessive
474FAM161A
475Retinitis pigmentosa type 3 X-linked
476RPGR
477Retinitis pigmentosa type 30, autosomal dominant
478FSCN2
479Retinitis pigmentosa type 31, autosomal dominant
480TOPORS
481Retinitis pigmentosa type 33, autosomal dominant
482SNRNP200
483Retinitis pigmentosa type 35, autosomal dominant/recessive
484SEMA4A
485Retinitis pigmentosa type 36, autosomal recessive
486PRCD
487Retinitis pigmentosa type 38, autosomal recessive
488MERTK
489Retinitis pigmentosa type 39
490USH2A
491Retinitis pigmentosa type 4, autosomal dominant/recessive
492RHO
493Retinitis pigmentosa type 40, autosomal recessive
494PDE6B
495Retinitis pigmentosa type 41, autosomal recessive
496PROM1
497Retinitis pigmentosa type 42, autosomal dominant
498KLHL7
499Retinitis pigmentosa type 43, autosomal recessive
500PDE6A
501Retinitis pigmentosa type 44, autosomal dominant/recessive
502RGR
503Retinitis pigmentosa type 45, autosomal recessive
504CNGB1
505Retinitis pigmentosa type 46, autosomal recessive
506IDH3B
507Retinitis pigmentosa type 47, autosomal recessive
508SAG
509Retinitis pigmentosa type 48, autosomal dominant
510GUCA1B
511Retinitis pigmentosa type 49, autosomal recessive
512CNGA1
513Retinitis pigmentosa type 50, autosomal dominant
514BEST1
515Retinitis pigmentosa type 51, autosomal recessive
516TTC8
517Retinitis pigmentosa type 53, autosomal recessive
518RDH12
519Retinitis pigmentosa type 54, autosomal recessive
520PCARE
521Retinitis pigmentosa type 55, autosomal recessive
522ARL6
523Retinitis pigmentosa type 56, autosomal recessive
524IMPG2
525Retinitis pigmentosa type 57, autosomal recessive
526PDE6G
527Retinitis pigmentosa type 58, autosomal recessive
528ZNF513
529Retinitis pigmentosa type 59, autosomal recessive
530DHDDS
531Retinitis pigmentosa type 60
532PRPF6
533Retinitis pigmentosa type 61, autosomal recessive
534CLRN1
535Retinitis pigmentosa type 62, autosomal recessive
536MAK
537Retinitis pigmentosa type 64, autosomal recessive
538C8ORF37
539Retinitis pigmentosa type 66, autosomal recessive
540RBP3
541Retinitis pigmentosa type 7
542ROM1
543Retinitis pigmentosa type 7, autosomal dominant
544PRPH2
545Retinitis pigmentosa type 74, autosomal recessive
546BBS2
547Retinitis pigmentosa type 9, autosomal dominant
548RP9
549Retinitis pigmentosa, juvenile, autosomal recessive
550SPATA7
551Retinitis punctata albescens
552RHO
553Retinoschisis
554RS1
555Revesz syndrome
556TINF2
557Ring dermoid of cornea
558PITX2
559Senior-Loken syndrome type 5
560IQCB1
561Sorsby fundus dystrophy
562TIMP3
563Stargardt Disease type 1
564ABCA4
565Stargardt Disease type 1
566CNGB3
567Stargardt Disease type 3
568ELOVL4
569Stargardt Disease type 4
570PROM1
571Stickler syndrome type 1
572COL2A1
573Stickler syndrome type 1, nonsyndromic ocular
574COL2A1
575Stickler syndrome type 2
576COL11A1
577Stickler syndrome type 3
578COL11A2
579Stickler syndrome type 5
580COL9A2
581Stickler syndrome, autosomal recessive
582COL9A1
583Sveinsson choreoretinal atrophy
584TEAD1
585Usher syndrome type 1D
586CDH23
587Usher syndrome type 1D/F
588PCDH15
589Usher syndrome type 1G
590USH1G
591Usher syndrome type 1J
592CIB2
593Usher syndrome type 2C
594ADGRV1
595Usher syndrome type 2C
596PDZD7
597Usher syndrome type 2D
598WHRN
599Usher syndrome type 3A
600CLRN1
601Vitreoretinochoroidopathy
602BEST1
603Waardenburg syndrome/albinism
604MITF
605Waardenburg syndrome/albinism
606TYR
607Wagner syndrome
608VCAN
609Warburg micro syndrome 3
610RAB18
611Warburg micro syndrome type 1
612RAB3GAP1
613Weill-Marchesani syndrome - AR
614ADAMTS10
615Weill-Marchesani syndrome, dominant type 2
616FBN1
617Wolfram syndrome type 1
618WFS1
619Wolfram syndrome type 2
620CISD2
621Wolfram-like syndrome, autosomal dominant
622WFS1

Neurology Panel
Modal Title

Neurology Panel

No.Sdescription
1Amyotrophic lateral sclerosis (ALS) panel
2Ataxia comprehensive panel
3Ataxia panel
4Ataxia repeat expansion panel
5Dementia panel
6Dystonia panel
7Epilepsy panel
8Intellectual disability panel
9Neuromuscular panel
10Parkinson disease panel
11Spastic paraplegia panel

ENT single gene
Modal Title

ENT Single Gene

No.Description
1Alport syndrome, autosomal recessive
2COL4A3
3Alport syndrome, autosomal recessive
4COL4A4
5Alport syndrome, X-Linked
6COL4A5
7Auditory neuropathy, autosomal dominant
8DIAPH3
9Auriculocondylar syndrome type 2
10PLCB4
11Branchiootic syndrome type 1
12EYA1
13Brown-Vialetto-Van Laere syndrome 1
14SLC52A3
15Brown-Vialetto-Van Laere syndrome type 2
16SLC52A2
17Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
18IARS2
19Ciliogenesis related disorder
20PTPN23
21Deafness and male infertility, CATSPER2 related
22CATSPER2
23Deafness with keratopachydermia and constrictions of fingers and toes
24GJB2
25Deafness, autosomal dominant type 1
26DIAPH1
27Deafness, autosomal dominant type 10
28EYA4
29Deafness, autosomal dominant type 11
30MYO7A
31Deafness, autosomal dominant type 12
32TECTA
33Deafness, autosomal dominant type 13
34COL11A2
35Deafness, autosomal dominant type 15
36POU4F3
37Deafness, autosomal dominant type 17
38MYH9
39Deafness, autosomal dominant type 20
40ACTG1
41Deafness, autosomal dominant type 22
42MYO6
43Deafness, autosomal dominant type 23
44SIX1
45Deafness, autosomal dominant type 25
46SLC17A8
47Deafness, autosomal dominant type 28
48GRHL2
49Deafness, autosomal dominant type 2A
50KCNQ4
51Deafness, autosomal dominant type 2B
52GJB3
53Deafness, autosomal dominant type 36
54TMC1
55Deafness, autosomal dominant type 39, with dentinogenesis type 1
56DSPP
57Deafness, autosomal dominant type 3A
58GJB2
59Deafness, autosomal dominant type 3B
60GJB6
61Deafness, autosomal dominant type 4
62MYH14
63Deafness, autosomal dominant type 40
64CRYM
65Deafness, autosomal dominant type 44
66CCDC50
67Deafness, autosomal dominant type 48
68MYO1A
69Deafness, autosomal dominant type 4B
70CEACAM16
71Deafness, autosomal dominant type 5
72GSDME
73Deafness, autosomal dominant type 52
74POU4F3
75Deafness, autosomal dominant type 6
76WFS1
77Deafness, autosomal dominant type 64
78DIABLO
79Deafness, autosomal dominant type 65
80TBC1D24
81Deafness, autosomal dominant type 9
82COCH
83Deafness, autosomal recessive
84GJB3
85Deafness, autosomal recessive
86SUN1
87Deafness, autosomal recessive type 12
88CDH23
89Deafness, autosomal recessive type 15
90GIPC3
91Deafness, autosomal recessive type 16
92STRC
93Deafness, autosomal recessive type 18
94USH1C
95Deafness, autosomal recessive type 1A
96GJB2
97Deafness, autosomal recessive type 1B
98GJB6
99Deafness, autosomal recessive type 2
100MYO7A
101Deafness, autosomal recessive type 22
102OTOA
103Deafness, autosomal recessive type 23
104PCDH15
105Deafness, autosomal recessive type 24
106RDX
107Deafness, autosomal recessive type 25
108GRXCR1
109Deafness, autosomal recessive type 28
110TRIOBP
111Deafness, autosomal recessive type 29
112CLDN14
113Deafness, autosomal recessive type 3
114MYO15A
115Deafness, autosomal recessive type 30
116MYO3A
117Deafness, autosomal recessive type 31
118WHRN
119Deafness, autosomal recessive type 35
120ESRRB
121Deafness, autosomal recessive type 36
122ESPN
123Deafness, autosomal recessive type 39
124HGF
125Deafness, autosomal recessive type 4
126FOXI1
127Deafness, autosomal recessive type 42
128ILDR1
129Deafness, autosomal recessive type 48
130CIB2
131Deafness, autosomal recessive type 49
132MARVELD2
133Deafness, autosomal recessive type 53
134COL11A2
135Deafness, autosomal recessive type 59
136PJVK
137Deafness, autosomal recessive type 6
138TMIE
139Deafness, autosomal recessive type 61
140SLC26A5
141Deafness, autosomal recessive type 63
142LRTOMT
143Deafness, autosomal recessive type 66
144DCDC2
145Deafness, autosomal recessive type 67
146LHFPL5
147Deafness, autosomal recessive type 7
148TMC1
149Deafness, autosomal recessive type 70
150PNPT1
151Deafness, autosomal recessive type 74
152MSRB3
153Deafness, autosomal recessive type 76
154SYNE4
155Deafness, autosomal recessive type 77
156LOXHD1
157Deafness, autosomal recessive type 79
158TPRN
159Deafness, autosomal recessive type 8/10
160TMPRSS3
161Deafness, autosomal recessive type 86
162TBC1D24
163Deafness, autosomal recessive type 89
164KARS1
165Deafness, autosomal recessive type 9
166OTOF
167Deafness, autosomal recessive type 91
168SERPINB6
169Deafness, autosomal recessive type 93
170CABP2
171Deafness, congenital with inner ear agenesis, microtia, and microdontia
172FGF3
173Deafness, dystonia, and cerebral hypomyelination, X-linked
174BCAP31
175Deafness, nonsyndromic, sensorineural, mitochondrial
176MT-RNR1
177Deafness, X-linked type 1
178PRPS1
179Deafness, X-linked type 2
180POU3F4
181Deafness, X-linked type 4
182SMPX
183Deafness, X-linked type 5
184AIFM1
185Deafness, X-linked type 6
186COL4A6
187Fazio-Londe disease
188SLC52A3
189Hearing loss, MAP1A related
190MAP1A
191Hearing loss, MYH7B related
192MYH7B
193Heimler syndrome type 1
194PEX1
195Keratitis ichthyosis deafness syndrome autosomal dominant
196GJB2
197Keratoderma, palmoplantar, with deafness
198GJB2
199Knuckle pads and leukonychia sensorineural deafness
200GJB2
201Marshall syndrome
202COL11A1
203Mitochondrial modifier of deafness
204TRMU
205Opticoacoustic nerve atrophy with dementia
206TIMM8A
207Otopaladigital syndrome type 1
208FLNA
209Otopaladigital syndrome type 2
210FLNA
211Pendred syndrome
212SLC26A4
213Pneumothorax, primary spontaneous
214FLCN
215Primary ciliary dyskinesia type 1
216DNAI1
217Primary ciliary dyskinesia type 10
218DNAAF2
219Primary ciliary dyskinesia type 11
220RSPH4A
221Primary ciliary dyskinesia type 12
222RSPH9
223Primary ciliary dyskinesia type 13
224DNAAF1
225Primary ciliary dyskinesia type 14
226CCDC39
227Primary ciliary dyskinesia type 15
228CCDC40
229Primary ciliary dyskinesia type 16
230DNAL1
231Primary ciliary dyskinesia type 17
232CCDC103
233Primary ciliary dyskinesia type 18
234DNAAF5
235Primary ciliary dyskinesia type 19
236LRRC6
237Primary ciliary dyskinesia type 2
238DNAAF3
239Primary ciliary dyskinesia type 20
240CCDC114
241Primary ciliary dyskinesia type 23
242ARMC4
243Primary ciliary dyskinesia type 24
244RSPH1
245Primary ciliary dyskinesia type 25
246DYX1C1
247Primary ciliary dyskinesia type 26
248CFAP298
249Primary ciliary dyskinesia type 27
250CCDC65
251Primary ciliary dyskinesia type 28
252SPAG1
253Primary ciliary dyskinesia type 29
254CCNO
255Primary ciliary dyskinesia type 3
256DNAH5
257Primary ciliary dyskinesia type 5
258HYDIN
259Primary ciliary dyskinesia type 6
260NME8
261Primary ciliary dyskinesia type 7
262DNAH11
263Primary ciliary dyskinesia type 9
264DNAI2
265Primary ciliary dyskinesia, DNAH9 related
266DNAH9
267Progressive hearing loss
268P2RX2
269Pulmonary fibrosis, idiopathic
270SFTPA2
271Sinoatrial node dysfunction and deafness
272CACNA1D
273Tietz albinism-deafness syndrome
274MITF
275Wolfram syndrome type 1
276WFS1
277Wolfram syndrome type 2
278CISD2
279Wolfram-like syndrome, autosomal dominant
280WFS1

Cardiology, Penumology
Modal Title

Cardiology, Pneumology

No.Description
1Alveolar capillary dysplasia with misalignment of pulmonary veins
2FOXF1
3Arrhythmogenic right ventricular cardiomyopathy type 1
4TGFB3
5Arrhythmogenic right ventricular cardiomyopathy type 10
6DSG2
7Arrhythmogenic right ventricular cardiomyopathy type 11
8DSC2
9Arrhythmogenic right ventricular cardiomyopathy type 12
10JUP
11Arrhythmogenic right ventricular cardiomyopathy type 5
12TMEM43
13Arrhythmogenic right ventricular cardiomyopathy type 8
14DSP
15Arrhythmogenic right ventricular cardiomyopathy type 9
16PKP2
17Arrhythmogenic right ventricular dysplasia type 2
18RYR2
19Atrial fibrillation type 10
20SCN5A
21Atrial fibrillation type 11
22GJA5
23Atrial fibrillation type 12
24ABCC9
25Atrial fibrillation type 3
26KCNQ1
27Atrial fibrillation type 4
28KCNE2
29Atrial fibrillation type 6
30NPPA
31Atrial fibrillation type 7
32KCNA5
33Atrial septal defect type 3
34MYH6
35Atrial septal defect type 4
36TBX20
37Atrial septal defect type 5
38ACTC1
39Atrial septal defect type 6
40TLL1
41Atrial septal defect type 8
42CITED2
43Atrial septal defect type 9
44GATA6
45Atrioventricular septal defect type 4
46GATA4
47Atrioventricular septal defect type 5
48GATA6
49Barth syndrome
50TAZ
51Bicuspid aortic valve
52TIMP1
53Brugada syndrome type 1
54SCN5A
55Brugada syndrome type 2
56GPD1L
57Brugada syndrome type 3
58CACNA1C
59Brugada syndrome type 4
60CACNB2
61Brugada syndrome type 5
62SCN1B
63Brugada syndrome type 6
64KCNE3
65Brugada syndrome type 7
66SCN3B
67Brugada syndrome type 8
68HCN4
69Brugada syndrome type 9
70SLMAP
71Cardiac defects, CNOT3 related
72CNOT3
73Cardiac defects, PPP1R8 related
74PPP1R8
75Cardiac valvular dysplesia, X-linked
76FLNA
77Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
78SCO2
79Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 2
80COX15
81Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 3
82COA5
83Cardiofaciocutaneous syndrome
84BRAF
85Cardiofaciocutaneous syndrome
86KRAS
87Cardiofaciocutaneous syndrome type 3
88MAP2K1
89Cardiofaciocutaneous syndrome type 4
90MAP2K2
91Cardiomyopathy, apical hypertrophic, and neuropathy, MT-ATP8 related
92MT-ATP8
93Cardiomyopathy, dilated
94MYBPC3
95Cardiomyopathy, dilated type 1
96CRYAB
97Cardiomyopathy, dilated type 1A
98LMNA
99Cardiomyopathy, dilated type 1AA
100ACTN2
101Cardiomyopathy, dilated type 1BB
102DSG2
103Cardiomyopathy, dilated type 1C
104LDB3
105Cardiomyopathy, dilated type 1CC
106NEXN
107Cardiomyopathy, dilated type 1D
108TNNT2
109Cardiomyopathy, dilated type 1DD
110RBM20
111Cardiomyopathy, dilated type 1E
112SCN5A
113Cardiomyopathy, dilated type 1EE
114MYH6
115Cardiomyopathy, dilated type 1G
116TTN
117Cardiomyopathy, dilated type 1GG
118SDHA
119Cardiomyopathy, dilated type 1HH
120BAG3
121Cardiomyopathy, dilated type 1I
122DES
123Cardiomyopathy, dilated type 1J
124EYA4
125Cardiomyopathy, dilated type 1KK
126MYPN
127Cardiomyopathy, dilated type 1L
128SGCD
129Cardiomyopathy, dilated type 1LL
130PRDM16
131Cardiomyopathy, dilated type 1M
132CSRP3
133Cardiomyopathy, dilated type 1N
134TCAP
135Cardiomyopathy, dilated type 1O
136ABCC9
137Cardiomyopathy, dilated type 1P
138PLN
139Cardiomyopathy, dilated type 1R
140ACTC1
141Cardiomyopathy, dilated type 1S
142MYH7
143Cardiomyopathy, dilated type 1T
144TMPO
145Cardiomyopathy, dilated type 1U
146PSEN1
147Cardiomyopathy, dilated type 1V
148PSEN2
149Cardiomyopathy, dilated type 1W
150VCL
151Cardiomyopathy, dilated type 1X
152FKTN
153Cardiomyopathy, dilated type 1Y
154TPM1
155Cardiomyopathy, dilated type 1Z
156TNNC1
157Cardiomyopathy, dilated type 2A
158TNNI3
159Cardiomyopathy, dilated type 2B
160GATAD1
161Cardiomyopathy, dilated type 3B
162DMD
163Cardiomyopathy, dilated with ataxia
164DNAJC19
165Cardiomyopathy, dilated with hypergonadotropic hypogonadism
166LMNA
167Cardiomyopathy, dilated with woolly hair and keratoderma
168DSP
169Cardiomyopathy, familial hypertrophic
170CAV3
171Cardiomyopathy, familial hypertrophic type 1
172MYH7
173Cardiomyopathy, familial hypertrophic type 10
174MYL2
175Cardiomyopathy, familial hypertrophic type 11
176ACTC1
177Cardiomyopathy, familial hypertrophic type 12
178CSRP3
179Cardiomyopathy, familial hypertrophic type 16
180MYOZ2
181Cardiomyopathy, familial hypertrophic type 17
182JPH2
183Cardiomyopathy, familial hypertrophic type 19
184CALR3
185Cardiomyopathy, familial hypertrophic type 2
186TNNT2
187Cardiomyopathy, familial hypertrophic type 3
188TPM1
189Cardiomyopathy, familial hypertrophic type 4
190MYBPC3
191Cardiomyopathy, familial hypertrophic type 6
192PRKAG2
193Cardiomyopathy, familial hypertrophic type 7
194TNNI3
195Cardiomyopathy, familial hypertrophic type 8
196MYL3
197Cardiomyopathy, familial hypertrophic type 9
198TTN
199Cardiomyopathy, familial restrictive type 1
200TNNI3
201Cardiomyopathy, fatal, MT-TI related
202MT-TI
203Cardiomyopathy, hypertrophic, midventricular, digenic
204MYLK2
205Cardiomyopathy, hypertrophic, MT-TG related
206MT-TG
207Cardiomyopathy, hypertrophic, type 18
208PLN
209Cardiomyopathy, idiopathic dilated, mitochondrial, MT-TH related
210MT-TH
211Cardiomyopathy, infantile hypertrophic, MT-ATP8 related
212MT-ATP8
213Cardiomyopathy, left ventricular noncompaction, MYH7B related
214MYH7B
215Central hypoventilation syndrome with or without Hirschsprung disease
216PHOX2B
217Central hypoventilation syndrome, congenital
218ASCL1
219Congenital heart defects and ectodermal dysplasia
220PRKD1
221Congenital heart defects multiple types
222GATA5
223Congenital heart defects multiple types
224TAB2
225Coronary heart disease, susceptibility to, type 6
226MMP3
227CR1 deficiency
228CR1
229Danon disease
230LAMP2
231Diaphragmatic hernia type 3
232ZFPM2
233Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis
234DSP
235Dopamine beta-hydroxylase (DBH) deficiency
236DBH
237Familial atrial fibrillation type 13
238SCN1B
239Heart block, progressive, familial, type 1A
240SCN5A
241Heart-hand syndrome, Slovenian type
242LMNA
243Jervell and Lange-Nielsen syndrome type 1
244KCNQ1
245Jervell and Lange-Nielsen syndrome type 2
246KCNE1
247Left ventricular noncompaction 1, with or without congenital heart defects
248DTNA
249Left ventricular noncompaction 7
250MIB1
251Legionnaire disease, susceptibility to
252TLR5
253Long QT syndrome type 1
254KCNQ1
255Long QT syndrome type 10
256SCN4B
257Long QT syndrome type 11
258AKAP9
259Long QT syndrome type 12
260SNTA1
261Long QT syndrome type 13
262KCNJ5
263Long QT syndrome type 15
264CALM2
265Long QT syndrome type 2
266KCNH2
267Long QT syndrome type 3
268SCN5A
269Long QT syndrome type 4
270ANK2
271Long QT syndrome type 5
272KCNE1
273Long QT syndrome type 6
274KCNE2
275Long QT syndrome type 8
276CACNA1C
277Long QT syndrome type 9
278CAV3
279Marfan syndrome
280FBN1
281MASS syndrome
282FBN1
283McKusick-Kaufman syndrome
284MKKS
285MELAS syndrome
286MT-TC
287MELAS syndrome
288MT-TF
289MELAS syndrome, MT-TL1 related
290MT-TL1
291MERRF/MELAS overlap syndrome, MT-TS1 related
292MT-TS1
293MERRF/MELAS overlap syndrome, MT-TS2 related
294MT-TS2
295Mitochondrial myopathy and sideroblastic anemia type 1
296PUS1
297Mitochondrial myopathy, infantile, transient, MT-TE related
298MT-TE
299Mitochondrial myopathy, isolated
300MT-TD
301Mitochondrial myopathy, MT-TA related
302MT-TA
303Mitochondrial myopathy, MT-TM related
304MT-TM
305Mitochondrial phosphate carrier deficiency
306SLC25A3
307Moyamoya disease type 5
308ACTA2
309Multisystemic smooth muscle dysfunction syndrome
310ACTA2
311Myopathy, MT-TQ related
312MT-TQ
313Pancreatic agenesis and congenital heart defects
314GATA6
315Progressive familial heart block
316TRPM4
317Pulmonary fibrosis, idiopathic
318SFTPA1
319Pulmonary newborn hypertension
320CRHR1
321Pulmonary venoocclusive disease type 2
322EIF2AK4
323Sengers syndrome
324AGK
325Short QT syndrome type 1
326KCNH2
327Short QT syndrome type 2
328KCNQ1
329Short QT syndrome type 3
330KCNJ2
331Sick sinus syndrome type 1
332SCN5A
333Sick sinus syndrome type 3
334MYH6
335Sinoatrial node dysfunction and deafness
336CACNA1D
337Sudden infant death syndrome, susceptibility to
338SCN5A
339Sudden infant death with dysgenesis of the testes syndrome
340TSPYL1
341Testicular anomalies with or without congenital heart disease
342GATA4
343Tetralogy of Fallot
344ALDH1A2
345Tetralogy of Fallot
346GATA4
347Tetralogy of Fallot
348GATA6
349Tetralogy of Fallot
350ZFPM2
351Thoracic aortic aneurysm dissection
352SMAD2
353Transposition of the great arteries, dextro-looped 1
354MED13L
355Ventricular fibrillation, paroxysmal familial type 1
356SCN5A
357Ventricular septal defect type 1
358GATA4
359Ventricular septal defect type 2
360CITED2
361Ventricular tachycardia, catecholaminergic polymorphic type 1
362RYR2
363Ventricular tachycardia, catecholaminergic polymorphic type 2
364CASQ2
365Ventricular tachycardia, catecholaminergic polymorphic type 4
366CALM1
367Ventricular tachycardia, catecholaminergic polymorphic type 5
368TRDN
369Wolff -Parkinson-White syndrome
370PRKAG2

Neurology Single Gene
Modal Title

Neurology Single Gene

No.Description
1genesis, partial, with minifascicular neuropathy
2DHH
3Achalasia addisonianism alacrimia syndrome
4AAAS
5Acrocallosal syndrome
6KIF7
7Acyl-CoA peroxisomal oxidase deficiency
8ACOX1
9Adrenoleukodystrophy, x-linked
10ABCD1
11Adrenoleukodystrophy, x-linked
12PLXNB3
13Adrenoleukodystrophy/Adrenomyeloneuropathy
14ABCD1
15Agenesis of the corpus callosum with peripheral neuropathy
16SLC12A6
17Aicardi-Goutieres syndrome type 1
18TREX1
19Aicardi-Goutieres syndrome type 2
20RNASEH2B
21Aicardi-Goutieres syndrome type 3
22RNASEH2C
23Aicardi-Goutieres syndrome type 4
24RNASEH2A
25Aicardi-Goutieres syndrome type 5
26SAMHD1
27Aicardi-Goutieres syndrome type 6
28ADAR
29Aicardi-Goutieres syndrome type 7
30IFIH1
31Al-Raqad syndrome
32DCPS
33Alexander disease
34GFAP
35Allan-Herndon-Dudley syndrome
36SLC16A2
37Alpha-thalassemia/mental retardation syndrome
38ATRX
39Alternating hemiplegia of childhood type 1
40ATP1A2
41Alternating hemiplegia of childhood type 2
42ATP1A3
43Alzheimer disease type 1
44APP
45Alzheimer disease type 1
46NOS3
47Alzheimer disease type 18, susceptibility to
48ADAM10
49Alzheimer disease type 2
50APOE
51Alzheimer disease type 3
52PSEN1
53Alzheimer disease type 4
54PSEN2
55Alzheimers disease, early onset, autosomal dominant
56SORL1
57Alzheimers disease, RTN3 related
58RTN3
59Amish infantile epilepsy syndrome
60ST3GAL5
61Amyloidosis
62TTR
63Amyloidosis, finnish type
64GSN
65Amyotrophic lateral sclerosis risk factor
66CHGB
67Amyotrophic lateral sclerosis type 1
68SOD1
69Amyotrophic lateral sclerosis type 10
70TARDBP
71Amyotrophic lateral sclerosis type 11
72FIG4
73Amyotrophic lateral sclerosis type 12
74OPTN
75Amyotrophic lateral sclerosis type 14
76VCP
77Amyotrophic lateral sclerosis type 16
78SIGMAR1
79Amyotrophic lateral sclerosis type 17
80CHMP2B
81Amyotrophic lateral sclerosis type 18
82PFN1
83Amyotrophic lateral sclerosis type 2, juvenile
84ALS2
85Amyotrophic lateral sclerosis type 21
86MATR3
87Amyotrophic lateral sclerosis type 4
88SETX
89Amyotrophic lateral sclerosis type 6
90FUS
91Amyotrophic lateral sclerosis type 8
92VAPB
93Amyotrophic lateral sclerosis type 9
94ANG
95Amyotrophic lateral sclerosis with frontotemporal dementia
96C9orf72
97Amyotrophic lateral sclerosis, CREST related
98SS18L1
99Amyotrophic lateral sclerosis, susceptibility to
100NEFH
101Amyotrophic lateral sclerosis, VPS54 related
102VPS54
103Amyotrophic lateral sclerosis, x-linked juvenile and adult-onset ALS
104UBQLN2
105Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to
106TRPM7
107Amyotrophy hereditary neuralgic
1089-Sep
109Angelman syndrome
110chr. 15q11
111Angelman syndrome
112UBE3A
113Angelman-like syndrome
114CDKL5
115Angelman-like syndrome
116MECP2
117Arts syndrome
118PRPS1
119Asperger syndrome susceptibility X-linked type 2
120NLGN3
121Ataxia and muscle hypotonia
122COX20
123Ataxia telangiectasia like disorder
124MRE11
125Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
126DNAJC3
127Ataxia, posterior column, with retinitis pigmentosa
128FLVCR1
129Ataxia, progressive seizures, mental deterioration, and hearing loss, MT-TV related
130MT-TV
131Ataxia, sensory type 1, autosomal dominant
132RNF170
133Ataxia-oculomotor apraxia type 1
134APTX
135Ataxia-oculomotor apraxia type 2
136SETX
137Ataxia-oculomotor apraxia type 3
138PIK3R5
139Ataxia-oculomotor apraxia type 4
140PNKP
141Ataxia-telangiectasia
142ATM
143Attention deficit-hyperactivity disorder
144DRD4
145Attention deficit-hyperactivity disorder
146DRD5
147Autism spectrum disorder
148AHNAK2
149Autism spectrum disorder
150ANKS3
151Autism spectrum disorder
152BPIFA3
153Autism spectrum disorder
154EN2
155Autism spectrum disorder
156RABGGTA
157Autism spectrum disorder, MYO16 related
158MYO16
159Autism spectrum, MXRA5 related
160MXRA5
161Autism spectrum/ hyperactivity/ bipolar disorder, GRM7 related
162GRM7
163Autism susceptibility, type 16
164SLC9A9
165Autism susceptibility, type 18
166CHD8
167Autism susceptibility, type 19
168EIF4E
169Autism susceptibility, X-linked type 1
170NLGN3
171Autism susceptibility, X-linked type 17
172SHANK2
173Autism susceptibility, X-linked type 2
174NLGN4X
175Autism susceptibility, X-linked type 3
176MECP2
177Autism susceptibility, X-linked type 4
178PTCHD1
179Autism susceptibility, X-linked type 5
180RPL10
181Autism susceptibility, X-linked type 6
182TMLHE
183Autism, ATP1B4 related
184ATP1B4
185Autism, AVPR1A related
186AVPR1A
187Autism, C7orf43 related
188C7orf43
189Autism, CELF6 related
190CELF6
191Autism, EFCAB13 related
192EFCAB13
193Autism, FAAH2 related
194FAAH2
195Autism, FCRL6 related
196FCRL6
197Autism, GYG2 related
198GYG2
199Autism, IQCE related
200IQCE
201Autism, MBD1 related
202MBD1
203Autism, NTNG1 related
204NTNG1
205Autism, OR13H1 related
206OR13H1
207Autism, OXTR related
208OXTR
209Autism, PKHD1L1 related
210PKHD1L1
211Autism, RNF128 related
212RNF128
213Autism, RRM1 related
214RRM1
215Autism, SETD2 related
216SETD2
217Autism, SLC22A9 related
218SLC22A9
219Autism, UNC13B related
220UNC13B
221Autism, ZNF778 related
222ZNF778
223Autism/Mental retardation/Angelman syndrome, susceptibility to, ATP10A related
224ATP10A
225Bethlem myopathy
226COL6A1
227Bethlem myopathy
228COL6A2
229Bethlem myopathy type 1
230COL6A3
231Bethlem myopathy type 2
232COL12A1
233Borjeson-Forssman-Lehmann syndrome
234PHF6
235Brody myopathy
236ATP2A1
237Brunner syndrome
238MAOA
239Budd-Chiari syndrome
240F5
241Canavan disease
242ASPA
243CAPOS syndrome
244ATP1A3
245Cardiomyopathy, hypertrophic, type 24
246LDB3
247Cataracts with facial dysmorphism and neuropathy
248CTDP1
249Central core disease
250RYR1
251Central hypoventilation syndrome with or without Hirschsprung disease
252PHOX2B
253Central hypoventilation syndrome, congenital
254ASCL1
255Centronuclear myopathy type 1
256DNM2
257Centronuclear myopathy type 1
258MTMR14
259Centronuclear myopathy type 2
260BIN1
261Centronuclear myopathy type 3
262MYF6
263Centronuclear myopathy type 4
264CCDC78
265Centronuclear myopathy type 5
266SPEG
267Cerebellar ataxia
268CP
269Cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 3
270CA8
271Cerebellar ataxia with deafness and narcolepsy, autosomal recessive
272DNMT1
273Cerebellar ataxia with mental retardation and dysequilibrium syndrome type 2
274WDR81
275Cerebellar ataxia with spasticity
276GBA2
277Cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4
278ATP8A2
279Cerebellar ataxia, nonprogressive, with mental retardation
280CAMTA1
281Cerebellar ataxia, SNX14 related
282SNX14
283Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion type 1
284VLDLR
285Cerebral amyloid angiopathy
286CST3
287Cerebral amyloid angiopathy, APP related
288APP
289Cerebral infarction, susceptibility to
290PRKCH
291Cerebral palsy type 1, spastic quadriplegic
292GAD1
293Cerebral palsy type 2, spastic quadriplegic
294KANK1
295Cerebrotendinous xanthomatosis
296CYP27A1
297Cervical dystonia
298CIZ1
299Charcot-Marie-Tooth disease, axonal type 20
300DYNC1H1
301CHILD syndrome
302NSDHL
303Chorea, hereditary benign
304NKX2-1
305Choreoacanthocytosis
306VPS13A
307CK syndrome
308NSDHL
309CMT1A
310PMP22
311CMT1B
312MPZ
313CMT1C
314LITAF
315CMT1D
316EGR2
317CMT1E
318PMP22
319CMT2A1
320KIF1B
321CMT2A2
322MFN2
323CMT2B
324RAB7A
325CMT2B1
326LMNA
327CMT2B2
328MED25
329CMT2C
330TRPV4
331CMT2D
332GARS1
333CMT2F
334HSPB1
335CMT2I
336MPZ
337CMT2J
338MPZ
339CMT2K
340GDAP1
341CMT2L
342HSPB8
343CMT2N
344AARS1
345CMT2P
346LRSAM1
347CMT4, CTDP1 related
348CTDP1
349CMT4A
350GDAP1
351CMT4B1
352MTMR2
353CMT4B2
354SBF2
355CMT4C
356SH3TC2
357CMT4D
358NDRG1
359CMT4E
360EGR2
361CMT4E
362MPZ
363CMT4F
364PRX
365CMT4H
366FGD4
367CMT4J
368FIG4
369CMTDIF
370GNB4
371CMTRIB
372KARS1
373CMTRID
374COX6A1
375CMTX1
376GJB1
377CMTX4
378AIFM1
379CMTX5
380PRPS1
381COACH syndrome
382CC2D2A
383COACH syndrome
384RPGRIP1L
385COACH syndrome
386TMEM67
387Coenzyme Q10 deficiency type 1
388COQ2
389Coenzyme Q10 deficiency type 2
390PDSS1
391Coenzyme Q10 deficiency type 3
392PDSS2
393Coenzyme Q10 deficiency type 5
394COQ9
395Coffin-Lowry syndrome
396RPS6KA3
397Cohen syndrome
398VPS13B
399Compton-North congenital myopathy
400CNTN1
401Congenital muscular dystrophy and hypoglycosylation of ?-dystroglycan
402B3GALNT2
403Convulsions, benign familial infantile, 3
404SCN2A
405Convulsions, familial infantile, with paroxysmal choreoathetosis
406PRRT2
407Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia
408IGBP1
409Cortical dysplasia, complex, with other brain malformations, type 1
410TUBB3
411Cortical dysplasia, complex, with other brain malformations, type 5
412TUBB2A
413Cortical dysplasia-focal epilepsy syndrome
414CNTNAP2
415Corticobasal Degeneration, CFL1 related
416CFL1
417CR1 deficiency
418CR1
419Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
420TMCO1
421Creatine deficiency syndrome X-linked
422SLC6A8
423Creatine phosphokinase, elevated serum
424CAV3
425Creutzfeldt-Jakob disease
426PRNP
427Cytochrome c oxidase 1 deficiency
428MT-CO1
429Cytochrome c oxidase 2 deficiency
430MT-CO2
431Cytochrome c oxidase 3 deficiency
432MT-CO3
433Danon disease
434LAMP2
435Dejerine-Sottas disease
436EGR2
437Dejerine-Sottas disease
438GJB1
439Dejerine-Sottas disease
440MPZ
441Dejerine-Sottas disease
442PMP22
443Dejerine-Sottas disease
444PRX
445Dementia, familial, British type
446ITM2B
447Dementia, familial, Danish type
448ITM2B
449Dementia, frontotemporal
450GRN
451Dementia, frontotemporal
452MAPT
453Dementia, frontotemporal
454PSEN1
455Dementia, frontotemporal
456TARDBP
457Dementia, Lewy body
458SNCA
459Dent disease type 2
460OCRL
461Dentatorubral-pallidoluysian atrophy
462ATN1
463Developmental delay and microcephaly, SLC1A4 related
464SLC1A4
465Developmental delay, GNAQ related
466GNAQ
467Developmental delay, KMT2C related
468KMT2C
469DI-CMTB
470DNM2
471DI-CMTC
472YARS1
473DI-CMTD
474MPZ
475Dravet syndrome
476GABRG2
477Dravet syndrome
478SCN2A
479Dravet syndrome, modifier of
480SCN9A
481Dysautonomia, FRRS1L-related
482FRRS1L
483Dyskinesia, familial, with facial myokymia
484ADCY5
485Dyskinesia, limb and orofacial, infantile-onset
486PDE10A
487Dyslexia
488PCDH11X
489Dyssegmental dysplasia, Silverman-Handmaker type
490HSPG2
491Dystonia juvenile-onset
492ACTB
493Dystonia, DOPA-responsive, autosomanl recessive
494SPR
495Dystonia-deafness syndrome
496TIMM8A
497DYT1
498TOR1A
499DYT10
500PRRT2
501DYT11
502SGCE
503DYT11, DRD2 related
504DRD2
505DYT12
506ATP1A3
507DYT16
508PRKRA
509DYT18
510SLC2A1
511DYT2
512HPCA
513DYT23
514CACNA1B
515DYT24
516ANO3
517DYT25
518GNAL
519DYT26, myoclonic
520KCTD17
521DYT27
522COL6A3
523DYT3
524TAF1
525DYT4
526TUBB4A
527DYT5A
528GCH1
529DYT6
530THAP1
531DYT8
532SLC2A1
533Early infantile epileptic encephalopathy type 1
534ARX
535Early infantile epileptic encephalopathy type 10
536PNKP
537Early infantile epileptic encephalopathy type 11
538SCN2A
539Early infantile epileptic encephalopathy type 12
540PLCB1
541Early infantile epileptic encephalopathy type 13
542SCN8A
543Early infantile epileptic encephalopathy type 14
544KCNT1
545Early infantile epileptic encephalopathy type 15
546ST3GAL3
547Early infantile epileptic encephalopathy type 16
548TBC1D24
549Early infantile epileptic encephalopathy type 17
550GNAO1
551Early infantile epileptic encephalopathy type 19
552GABRA1
553Early infantile epileptic encephalopathy type 2
554CDKL5
555Early infantile epileptic encephalopathy type 20
556PIGA
557Early infantile epileptic encephalopathy type 21
558NECAP1
559Early infantile epileptic encephalopathy type 23
560DOCK7
561Early infantile epileptic encephalopathy type 24
562HCN1
563Early infantile epileptic encephalopathy type 25
564SLC13A5
565Early infantile epileptic encephalopathy type 26
566KCNB1
567Early infantile epileptic encephalopathy type 27
568GRIN2B
569Early infantile epileptic encephalopathy type 28
570WWOX
571Early infantile epileptic encephalopathy type 29
572AARS1
573Early infantile epileptic encephalopathy type 3
574SLC25A22
575Early infantile epileptic encephalopathy type 30
576SIK1
577Early infantile epileptic encephalopathy type 31
578DNM1
579Early infantile epileptic encephalopathy type 32
580KCNA2
581Early infantile epileptic encephalopathy type 33
582EEF1A2
583Early infantile epileptic encephalopathy type 4
584STXBP1
585Early infantile epileptic encephalopathy type 40
586GUF1
587Early infantile epileptic encephalopathy type 45
588GABRB1
589Early infantile epileptic encephalopathy type 46
590GRIN2D
591Early infantile epileptic encephalopathy type 47
592FGF12
593Early infantile epileptic encephalopathy type 5
594SPTAN1
595Early infantile epileptic encephalopathy type 6
596SCN1A
597Early infantile epileptic encephalopathy type 67
598CUX2
599Early infantile epileptic encephalopathy type 7
600KCNQ2
601Early infantile epileptic encephalopathy type 8
602ARHGEF9
603Early infantile epileptic encephalopathy type 9
604PCDH19
605Emery-Dreifuss muscular dystrophy type 1
606EMD
607Emery-Dreifuss muscular dystrophy type 2
608LMNA
609Emery-Dreifuss muscular dystrophy type 4
610SYNE1
611Emery-Dreifuss muscular dystrophy type 5
612SYNE2
613Emery-Dreifuss muscular dystrophy type 6
614FHL1
615Encephalomyopathy, mitochondrial, MT-TL2 related
616MT-TL2
617Encephalomyopathy, mitochondrial, MT-TR related
618MT-TR
619Encephalopathy lethal, due to defective mitochondrial peroxisomal fission
620DNM1L
621Encephalopathy mitochondrial
622VDAC1
623Encephalopathy mitochondrial with proximal renal tubulopathy due to cytochrome c oxidase deficiency
624COX10
625Encephalopathy mitochondrial, MT-TW related
626MT-TW
627Encephalopathy neonatal severe
628MECP2
629Encephalopathy thiamine-responsive
630SLC19A3
631Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 5
632TRAF3
633Encephalopathy, acute, necrotizing, type 1
634RANBP2
635Encephalopathy, familial, with neuroserpin inclusion bodies
636SERPINI1
637Encephalopathy, progressive, with or without lipodystrophy
638BSCL2
639Endplate acetylcholinesterase deficiency
640COLQ
641Epidermolysis bullosa simplex with muscular dystrophy
642PLEC
643Epidermolysis bullosa simplex, autosomal recessive type 2
644DST
645Epilepsy with neurodevelopmental defects
646GRIN2A
647Epilepsy, childhood absence type 2
648GABRG2
649Epilepsy, childhood absence type 4, susceptibility to
650GABRA1
651Epilepsy, childhood absence type 5
652GABRB3
653Epilepsy, childhood absence type 6, susceptibility to
654CACNA1H
655Epilepsy, familial focal with variable foci
656DEPDC5
657Epilepsy, familial temporal lobe type 1
658LGI1
659Epilepsy, familial temporal lobe type 5
660CPA6
661Epilepsy, familial temporal lobe type 7
662RELN
663Epilepsy, focal, SCN3A related
664SCN3A
665Epilepsy, HCN2 related
666HCN2
667Epilepsy, hearing loss, and mental retardation syndrome
668SPATA5
669Epilepsy, idiopathic generalized type 10
670GABRD
671Epilepsy, idiopathic generalized type 11
672CLCN2
673Epilepsy, idiopathic generalized type 12
674SLC2A1
675Epilepsy, juvenile absence type 1
676EFHC1
677Epilepsy, nocturnal frontal lobe
678KCNT1
679Epilepsy, nocturnal frontal lobe type 1
680CHRNA4
681Epilepsy, nocturnal frontal lobe type 3
682CHRNB2
683Epilepsy, nocturnal frontal lobe type 4
684CHRNA2
685Epilepsy, progressive myoclonic type 4, with or without renal failure
686SCARB2
687Epilepsy, progressive myoclonic type 5
688PRICKLE2
689Epilepsy, progressive myoclonic type 7
690KCNC1
691Epilepsy, X-linked, with learning disabilities and behavior disorders
692SYN1
693Epileptic encephalopathy, childhood-onset
694CHD2
695Epileptic encephalopathy, Lennox-Gastaut type
696MAPK10
697Episodic ataxia type 1
698KCNA1
699Episodic ataxia type 2
700CACNA1A
No.Description
701Episodic ataxia type 5
702CACNB4
703Episodic ataxia type 6
704SLC1A3
705Episodic pain syndrome type 2, familial
706SCN10A
707Episodic pain syndrome type 3, familial
708SCN11A
709Erythermalgia, primary
710SCN9A
711Ethylmalonic encephalopathy
712ETHE1
713Facial paresis type 3
714HOXB1
715Facioscapulohumeral dystrophy-like phenotype, FAT1 related
716FAT1
717Familial hemiplegic migraine type 1
718CACNA1A
719Familial hemiplegic migraine type 2
720ATP1A2
721Familial hemiplegic migraine type 3
722SCN1A
723Familial infantile myoclonic epilepsy
724TBC1D24
725Fatal familial imsomnia
726PRNP
727Febrile seizures, familial, type 4
728ADGRV1
729FG syndrome type 1
730MED12
731FG syndrome type 2
732FLNA
733FG syndrome type 4
734CASK
735Filaminopathy
736FLNC
737Fragile X syndrome
738FMR1
739Fragile X tremor/ataxia syndrome
740FMR1
741Friedreich ataxia
742FXN
743Frontometaphyseal dysplasia
744FLNA
745Fucosidosis
746FUCA1
747Fukuyama congenital muscular dystrophy
748FKTN
749Gaze palsy, horizontal, with progressive scoliosis
750ROBO3
751Generalized epilepsy and paroxysmal dyskinesia
752KCNMA1
753Generalized epilepsy with febrile seizures plus type 1
754SCN1B
755Generalized epilepsy with febrile seizures plus type 2
756SCN1A
757Generalized epilepsy with febrile seizures plus type 3
758GABRG2
759Generalized epilepsy with febrile seizures plus type 7
760SCN9A
761Generalized epilepsy with febrile seizures plus type 9
762STX1B
763Gerstmann-Straussler disease
764PRNP
765Giant axonal neuropathy type 1
766GAN
767Gillespie syndrome
768ITPR1
769GLUT1 deficiency syndrome type 1
770SLC2A1
771Glycine encephalopathy
772AMT
773Glycine encephalopathy
774GCSH
775Glycosylation disorde type 2A
776MGAT2
777Glycosylation disorde type 2C
778SLC35C1
779Glycosylation disorder type 1C
780ALG6
781Glycosylation disorder type 1E
782DPM1
783Glycosylation disorder type 1J
784DPAGT1
785Glycosylation disorder type 1M
786DOLK
787Glycosylation disorder type 2D
788B4GALT1
789Glycosylation disorder type 2E
790COG7
791Glycosylation disorder type 2F
792SLC35A1
793Glycosylation disorder type 2G
794COG1
795Glycosylation disorder type 2H
796COG8
797GM1-gangliosidosis
798GLB1
799Gordon Holmes Syndrome
800RNF216
801Griscelli syndrome type 2
802RAB27A
803Hereditary motor and sensory neuropathy, Okinawa type
804TFG
805Hereditary myopathy with early respiratory failure
806TTN
807Heterotopia, periventricular, ED variant
808FLNA
809Heterotopia, periventricular, X-linked dominant
810FLNA
811Hippocampal longterm potentiation, RFN39 related
812RNF39
813Hoyeraal-Hreidarsson syndrome
814DKC1
815HSAN1
816SPTLC1
817HSAN2A
818WNK1
819HSAN2B
820RETREG1
821HSAN3
822ELP1
823HSAN4
824NTRK1
825HSAN5
826NGF
827HSAN8
828PRDM12
829HSN2C
830KIF1A
831Huntington disease
832HTT
833Huntington disease, ZDHHC17 related
834ZDHHC17
835Huntington disease-like type 1
836PRNP
837Huntington disease-like type 2
838JPH3
839Hydranencephaly with abnormal genitalia/Lissencephaly X-linked 2
840ARX
841Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstraction
842L1CAM
843Hydrocephalus, nonsyndromic, autosomal recessive type 1
844CCDC88C
845Hydrocephalus, nonsyndromic, autosomal recessive type 2
846MPDZ
847Hyperekplexia
848GLRA1
849Hyperekplexia
850GLRB
851Hyperekplexia
852SLC6A5
853Hyperekplexia, EIEE8 related
854ARHGEF9
855Hyperkalemic periodic paralysis
856SCN4A
857Hyperphenylalaninemia, BH4-deficient, B
858GCH1
859Hypokalemic periodic paralysis type 1
860CACNA1S
861Hypomyelination with brainstem and spinal cord involvement and leg spasticity
862DARS
863Inclusion body myopathy
864GNE
865Inclusion body myopathy
866MYH2
867Infantile neuroaxonal dystrophy type 1
868PLA2G6
869Insensitivity to pain, channelopathy-associated
870SCN9A
871Intellectual disability nonsyndromic, CIC related
872CIC
873Intellectual disability nonsyndromic, CNKSR2 related
874CNKSR2
875Intellectual disability, TBR1 related
876TBR1
877Intestinal pseudoobstraction, neuronal
878FLNA
879Jensen syndrome
880TIMM8A
881Joubert syndrome type 1
882INPP5E
883Joubert syndrome type 10
884OFD1
885Joubert syndrome type 13
886TCTN1
887Joubert syndrome type 14
888TMEM237
889Joubert syndrome type 15
890CEP41
891Joubert syndrome type 16
892TMEM138
893Joubert syndrome type 17
894CPLANE1
895Joubert syndrome type 18
896TCTN3
897Joubert syndrome type 2
898TMEM216
899Joubert syndrome type 20
900TMEM231
901Joubert syndrome type 21
902CSPP1
903Joubert syndrome type 22
904PDE6D
905Joubert syndrome type 23
906KIAA0586
907Joubert syndrome type 24
908TCTN2
909Joubert syndrome type 3
910AHI1
911Joubert syndrome type 4
912NPHP1
913Joubert syndrome type 5
914CEP290
915Joubert syndrome type 6
916TMEM67
917Joubert syndrome type 7
918RPGRIP1L
919Joubert syndrome type 8
920ARL13B
921Joubert syndrome type 9
922CC2D2A
923Joubert syndrome, EXOC8 related
924EXOC8
925Joubert syndrome, EXOSC8 related
926EXOSC8
927Kabuki syndrome type 2
928KDM6A
929Kenny-Caffey syndrome type 2
930FAM111A
931King-Denborough syndrome
932RYR1
933Kohlschutter Tonz syndrome
934ROGDI
935Krabbe disease
936GALC
937Leigh syndrome
938BCS1L
939Leigh syndrome
940COX15
941Leigh syndrome
942FOXRED1
943Leigh syndrome
944NDUFA10
945Leigh syndrome
946NDUFA2
947Leigh syndrome
948NDUFA9
949Leigh syndrome
950NDUFAF1
951Leigh syndrome
952NDUFAF2
953Leigh syndrome
954NDUFAF3
955Leigh syndrome
956NDUFAF6
957Leigh syndrome
958NDUFS3
959Leigh syndrome
960NDUFS4
961Leigh syndrome
962NDUFS7
963Leigh syndrome
964NDUFS8
965Leigh syndrome
966NUBPL
967Leigh syndrome
968SDHA
969Leigh syndrome and mitochondrial encephalopathy
970ACAD9
971Leigh syndrome due to COX deficiency
972SURF1
973Leigh syndrome due to mitochondrial complex I deficiency
974MT-ND3
975Leigh syndrome due to mitochondrial complex I deficiency
976MT-ND5
977Leigh syndrome due to mitochondrial complex I deficiency
978MT-ND6
979Leigh syndrome due to mitochondrial complex I deficiency
980NDUFA12
981Leigh syndrome due to pyruvate and alpha-ketoglutarate dehydrogenase deficiencies, LIPT1 related
982LIPT1
983Leigh syndrome due to pyruvate carboxylase deficiency
984PC
985Leigh syndrome due to the mitochondrial complex IV deficiency
986TACO1
987Leigh syndrome, French-Canadian type
988LRPPRC
989Leigh syndrome, X-linked
990PDHA1
991Lesch-Nyham syndrome
992HPRT1
993Leukodystrophy demyelinating adult-onset, autosomal dominant
994LMNB1
995Leukodystrophy hypomyelinating
996GJC2
997Leukodystrophy hypomyelinating type 3
998AIMP1
999Leukodystrophy hypomyelinating type 4
1000HSPD1
1001Leukodystrophy hypomyelinating type 5
1002FAM126A
1003Leukodystrophy hypomyelinating type 6
1004TUBB4A
1005Leukodystrophy hypomyelinating type 7
1006POLR3A
1007Leukodystrophy hypomyelinating type 8
1008POLR3B
1009Leukodystrophy hypomyelinating type 9
1010RARS
1011Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
1012DARS2
1013Leukoencephalopathy with dystonia and motor neuropathy
1014SCP2
1015Leukoencephalopathy with vanishing white matter
1016EIF2B1
1017Leukoencephalopathy with vanishing white matter
1018EIF2B2
1019Leukoencephalopathy with vanishing white matter
1020EIF2B3
1021Leukoencephalopathy with vanishing white matter
1022EIF2B4
1023Leukoencephalopathy with vanishing white matter
1024EIF2B5
1025Leukoencephalopathy, cystic without megalencephaly
1026RNASET2
1027Leukoencephalopathy, diffuse hereditary, with spheroids
1028CSF1R
1029Leukoencephalopathy, progressive, with ovarian failure
1030AARS2
1031Lewy body dementia, susceptibility to
1032GBA
1033Limb-girdle muscular dystrophy, autosomal dominant type 1A
1034MYOT
1035Limb-girdle muscular dystrophy, autosomal dominant type 1B
1036LMNA
1037Limb-girdle muscular dystrophy, autosomal dominant type 1C
1038CAV3
1039Limb-girdle muscular dystrophy, autosomal dominant type 1E
1040DNAJB6
1041Limb-girdle muscular dystrophy, autosomal recessice type 2F
1042SGCD
1043Limb-girdle muscular dystrophy, autosomal recessive type 12C
1044POMK
1045Limb-girdle muscular dystrophy, autosomal recessive type 2A
1046CAPN3
1047Limb-girdle muscular dystrophy, autosomal recessive type 2B
1048DYSF
1049Limb-girdle muscular dystrophy, autosomal recessive type 2C
1050SGCG
1051Limb-girdle muscular dystrophy, autosomal recessive type 2D
1052SGCA
1053Limb-girdle muscular dystrophy, autosomal recessive type 2E
1054SGCB
1055Limb-Girdle Muscular Dystrophy, autosomal recessive type 2G
1056TCAP
1057Limb-girdle muscular dystrophy, autosomal recessive type 2H
1058TRIM32
1059Limb-girdle muscular dystrophy, autosomal recessive type 2I
1060FKRP
1061Limb-girdle muscular dystrophy, autosomal recessive type 2J
1062TTN
1063Limb-girdle muscular dystrophy, autosomal recessive type 2K
1064POMT1
1065Limb-girdle muscular dystrophy, autosomal recessive type 2L
1066ANO5
1067Limb-girdle muscular dystrophy, autosomal recessive type 2M
1068FKTN
1069Limb-girdle muscular dystrophy, autosomal recessive type 2N
1070POMT1
1071Limb-girdle muscular dystrophy, autosomal recessive type 2S
1072TRAPPC11
1073Lissencephaly type 4 with microcephaly
1074NDE1
1075Lissencephaly/Subcortical laminal heteropia, X-linked
1076DCX
1077Lowe oculocerebrorenal syndrome
1078OCRL
1079Major affective disorder 7
1080XBP1
1081Malignant hyperthermia type 5
1082CACNA1S
1083Mandibulofacial dysostosis with microcephaly
1084EFTUD2
1085Marden-Walker syndrome
1086PIEZO2
1087MASA syndrome
1088L1CAM
1089McLeod syndrome with or without chronic granulomatous disease
1090XK
1091Megalencephalic leukoencephalopathy with subcortical cysts
1092MLC1
1093Megalencephalic leukoencephalopathy with subcortical cysts 2A
1094HEPACAM
1095MELAS syndrome, MT-TL1 related
1096MT-TL1
1097Melnick-Needles syndrome
1098FLNA
1099Mental retardation and microcephaly with pontine and cerebellar hypoplasia
1100CASK
1101Mental retardation non-syndromic
1102ELK1
1103Mental retardation non-syndromic
1104KLF8
1105Mental retardation non-syndromic
1106NXF5
1107Mental retardation non-syndromic
1108ZCCHC12
1109Mental retardation with Cerebellar ataxia and dysequilibrium syndrome type 2
1110WDR81
1111Mental retardation with hypotonic facies syndrome, X-linked
1112ATRX
1113Mental retardation with language impairment and autistic features
1114FOXP1
1115Mental retardation X-linked, SMARCA1 related
1116SMARCA1
1117Mental retardation X-linked, syndromic, Claes-Jensen type
1118KDM5C
1119Mental retardation X-linked, syndromic, Lubs type
1120MECP2
1121Mental retardation, anterior maxillary protrusion, and strabismus
1122SOBP
1123Mental retardation, autosomal dominant type 1
1124MBD5
1125Mental retardation, autosomal dominant type 11
1126EPB41L1
1127Mental retardation, autosomal dominant type 12
1128ARID1B
1129Mental retardation, autosomal dominant type 13
1130DYNC1H1
1131Mental retardation, autosomal dominant type 13
1132TRAPPC9
1133Mental retardation, autosomal dominant type 14
1134ARID1A
1135Mental retardation, autosomal dominant type 15
1136SMARCB1
1137Mental retardation, autosomal dominant type 16
1138SMARCA4
1139Mental retardation, autosomal dominant type 17
1140PACS1
1141Mental retardation, autosomal dominant type 18
1142GATAD2B
1143Mental retardation, autosomal dominant type 19
1144CTNNB1
1145Mental retardation, autosomal dominant type 2
1146DOCK8
1147Mental retardation, autosomal dominant type 20
1148MEF2C
1149Mental retardation, autosomal dominant type 23
1150SETD5
1151Mental retardation, autosomal dominant type 24
1152DEAF1
1153Mental retardation, autosomal dominant type 25
1154AHDC1
1155Mental retardation, autosomal dominant type 27
1156SOX11
1157Mental retardation, autosomal dominant type 28
1158ADNP
1159Mental retardation, autosomal dominant type 3
1160CDH15
1161Mental retardation, autosomal dominant type 31
1162PURA
1163Mental retardation, autosomal dominant type 32
1164KAT6A
1165Mental retardation, autosomal dominant type 37
1166POGZ
1167Mental retardation, autosomal dominant type 38
1168EEF1A2
1169Mental retardation, autosomal dominant type 5
1170SYNGAP1
1171Mental retardation, autosomal dominant type 6
1172GRIN2B
1173Mental retardation, autosomal dominant type 7
1174DYRK1A
1175Mental retardation, autosomal dominant type 8
1176GRIN1
1177Mental retardation, autosomal dominant type 9
1178KIF1A
1179Mental retardation, autosomal recessive type 1
1180PRSS12
1181Mental retardation, autosomal recessive type 12
1182ST3GAL3
1183Mental retardation, autosomal recessive type 14
1184TECR
1185Mental retardation, autosomal recessive type 15
1186MAN1B1
1187Mental retardation, autosomal recessive type 18
1188MED23
1189Mental retardation, autosomal recessive type 2
1190CRBN
1191Mental retardation, autosomal recessive type 27
1192LINS1
1193Mental retardation, autosomal recessive type 3
1194CC2D1A
1195Mental retardation, autosomal recessive type 36
1196ADAT3
1197Mental retardation, autosomal recessive type 37
1198ANK3
1199Mental retardation, autosomal recessive type 38
1200HERC2
1201Mental retardation, autosomal recessive type 39
1202TTI2
1203Mental retardation, autosomal recessive type 40
1204TAF2
1205Mental retardation, autosomal recessive type 41
1206KPTN
1207Mental retardation, autosomal recessive type 42
1208PGAP1
1209Mental retardation, autosomal recessive type 46
1210NDST1
1211Mental retardation, autosomal recessive type 49
1212GPT2
1213Mental retardation, autosomal recessive type 5
1214NSUN2
1215Mental retardation, autosomal recessive type 55
1216PUS3
1217Mental retardation, autosomal recessive type 7
1218TUSC3
1219Mental retardation, X-linked
1220RAB40AL
1221Mental retardation, X-linked syndromic, Christianson type
1222SLC9A6
1223Mental retardation, X-linked syndromic, Nascimento-type
1224UBE2A
1225Mental retardation, X-linked syndromic, Raymond type
1226ZDHHC9
1227Mental retardation, X-linked syndromic, Turner type
1228HUWE1
1229Mental retardation, X-linked type 1
1230IQSEC2
1231Mental retardation, X-linked type 101
1232MID2
1233Mental retardation, X-linked type 102
1234DDX3X
1235Mental retardation, X-Linked type 13
1236MECP2
1237Mental retardation, X-linked type 14
1238UPF3B
1239Mental retardation, X-linked type 15
1240CUL4B
1241Mental retardation, X-linked type 16
1242FGD1
1243Mental retardation, X-linked type 17
1244HSD17B10
1245Mental retardation, X-linked type 19
1246RPS6KA3
1247Mental retardation, X-linked type 21
1248IL1RAPL1
1249Mental retardation, X-linked type 29
1250ARX
1251Mental retardation, X-linked type 3
1252HCFC1
1253Mental retardation, X-linked type 30
1254PAK3
1255Mental retardation, X-linked type 32
1256CLIC2
1257Mental retardation, X-linked type 41
1258GDI1
1259Mental retardation, X-linked type 44
1260FTSJ1
1261Mental retardation, X-linked type 45
1262ZNF81
1263Mental retardation, X-linked type 46
1264ARHGEF6
1265Mental retardation, X-linked type 58
1266TSPAN7
1267Mental retardation, X-linked type 59
1268AP1S2
1269Mental retardation, X-linked type 63
1270ACSL4
1271Mental retardation, X-linked type 72
1272RAB39B
1273Mental retardation, X-linked type 88, AGTR2 related
1274AGTR2
1275Mental retardation, X-linked type 89
1276ZNF41
1277Mental retardation, X-linked type 90
1278DLG3
1279Mental retardation, X-linked type 91
1280ZDHHC15
1281Mental retardation, X-linked type 92
1282ZNF674
1283Mental retardation, X-linked type 93
1284BRWD3
1285Mental retardation, X-linked type 94
1286GRIA3
1287Mental retardation, X-linked type 95
1288MAGT1
1289Mental retardation, X-linked type 96
1290SYP
1291Mental retardation, X-linked type 97
1292ZNF711
1293Mental retardation, X-linked type 99
1294USP9X
1295Mental retardation, X-linked with epilepsy
1296ATP6AP2
1297Mental retardation, X-linked, associated with fragile site FRAXE
1298AFF2
1299Mental retardation, x-linked, EFHC2 related
1300EFHC2
No.Description
1301Mental retardation, X-linked, nonsyndromic
1302NEXMIF
1303Mental retardation, X-linked, Siderius type
1304PHF8
1305Mental retardation, X-linked, Snyder-Robinson type
1306SMS
1307Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
1308OPHN1
1309Mental retardation, X-linked, with isolated growth hormone deficiency
1310SOX3
1311MERRF syndrome, MT-TK related
1312MT-TK
1313MERRF syndrome, MT-TP related
1314MT-TP
1315MERRF/MELAS overlap syndrome, MT-TS1 related
1316MT-TS1
1317MERRF/MELAS overlap syndrome, MT-TS2 related
1318MT-TS2
1319Metachromatic leukodystrophy due to Saposin B deficiency
1320PSAP
1321Methionine adenosyltransferase deficiency, autosomal recessive
1322MAT1A
1323Microcephaly-capillary malformation syndrome
1324STAMBP
1325Minicore myopathy with external ophthalmoplegia
1326RYR1
1327Mirror movements type 1
1328DCC
1329Mirror movements type 2
1330RAD51
1331Mirror movements type 3
1332DNAL4
1333Mitochondrial complex I deficiency
1334FOXRED1
1335Mitochondrial complex I deficiency
1336MT-ND1
1337Mitochondrial complex I deficiency
1338MT-ND2
1339Mitochondrial complex I deficiency
1340MT-ND3
1341Mitochondrial complex I deficiency
1342MT-ND4
1343Mitochondrial complex I deficiency
1344MT-ND4L
1345Mitochondrial complex I deficiency
1346MT-ND5
1347Mitochondrial complex I deficiency
1348MT-ND6
1349Mitochondrial complex I deficiency
1350NDUFA1
1351Mitochondrial complex I deficiency
1352NDUFA11
1353Mitochondrial complex I deficiency
1354NDUFAF1
1355Mitochondrial complex I deficiency
1356NDUFAF3
1357Mitochondrial complex I deficiency
1358NDUFAF4
1359Mitochondrial complex I deficiency
1360NDUFAF5
1361Mitochondrial complex I deficiency
1362NDUFB3
1363Mitochondrial complex I deficiency
1364NDUFS1
1365Mitochondrial complex I deficiency
1366NDUFS2
1367Mitochondrial complex I deficiency
1368NDUFS4
1369Mitochondrial complex I deficiency
1370NDUFS6
1371Mitochondrial complex I deficiency
1372NDUFV1
1373Mitochondrial complex I deficiency
1374NDUFV2
1375Mitochondrial complex I deficiency, MT-TN related
1376MT-TN
1377Mitochondrial complex II deficiency
1378SDHAF1
1379Mitochondrial complex II deficiency
1380SDHD
1381Mitochondrial complex III deficiency
1382BCS1L
1383Mitochondrial complex III deficiency
1384UQCRB
1385Mitochondrial complex III deficiency
1386UQCRC2
1387Mitochondrial complex III deficiency
1388UQCRQ
1389Mitochondrial complex III deficiency, nuclear type 2
1390TTC19
1391Mitochondrial complex III deficiency, nuclear type 7
1392UQCC2
1393Mitochondrial complex IV deficiency
1394COA8
1395Mitochondrial complex IV deficiency
1396COX6B1
1397Mitochondrial complex IV deficiency
1398FASTKD2
1399Mitochondrial complex IV deficiency
1400MT-CO3
1401Mitochondrial complex IV deficiency
1402PET100
1403Mitochondrial complex V (ATP synthase) deficiency
1404MT-ATP6
1405Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
1406ATPAF2
1407Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
1408TMEM70
1409Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3
1410ATP5F1E
1411Mitochondrial complex V deficiency, nuclear type 4
1412ATP5F1A
1413Mitochondrial Disorders, AKAP1 related
1414AKAP1
1415Mitochondrial DNA depletion syndrome
1416DGUOK
1417Mitochondrial DNA depletion syndrome
1418SUCLA2
1419Mitochondrial DNA depletion syndrome
1420TK2
1421Mitochondrial DNA depletion syndrome 8B, MNGIE type
1422RRM2B
1423Mitochondrial DNA depletion syndrome type 11
1424MGME1
1425Mitochondrial DNA depletion syndrome type 13
1426FBXL4
1427Mitochondrial DNA depletion syndrome type 4A
1428POLG
1429Mitochondrial DNA depletion syndrome type 4B
1430POLG
1431Mitochondrial DNA depletion syndrome type 6
1432MPV17
1433Mitochondrial DNA depletion syndrome type 7
1434TWNK
1435Mitochondrial DNA depletion syndrome, encephalomyopathic type with methylmalonic aciduria
1436SUCLG1
1437Mitochondrial encephalomyopathy
1438MFF
1439Mitochondrial encephalomyopathy
1440MT-CYB
1441Mitochondrial myopathy and sideroblastic anemia type 1
1442PUS1
1443Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy
1444POLG
1445Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy
1446TYMP
1447Mitochondrial respiratory chain complex II deficiency
1448SDHA
1449Mitochondrial respiratory chain disease, TIMM21 related
1450TIMM21
1451Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
1452ECHS1
1453Miyoshi muscular dystrophy type 3
1454ANO5
1455Miyoshi myopathy
1456DYSF
1457Multiple congenital anomalies-hypotonia-seizures syndrome type 3
1458PIGT
1459Multiple mitochondrial dysfunctions syndrome type 1
1460NFU1
1461Multiple mitochondrial dysfunctions syndrome type 2
1462BOLA3
1463Multiple mitochondrial dysfunctions syndrome type 3
1464IBA57
1465Multiple mitochondrial dysfunctions syndrome type 4
1466ISCA2
1467Multisystemic smooth muscle dysfunction syndrome
1468ACTA2
1469Muscle hypertrophy
1470MSTN
1471Muscle-eye-brain disease, POMK related
1472POMK
1473Muscular dystrophy type 1A
1474LAMA2
1475Muscular dystrophy type 1C
1476FKRP
1477Muscular dystrophy type 1D
1478LARGE1
1479Muscular dystrophy, Becker type
1480DMD
1481Muscular dystrophy, congenital, LMNA related
1482LMNA
1483Muscular dystrophy, congenital, megaconial type
1484CHKB
1485Muscular dystrophy, Duchenne type
1486DMD
1487Muscular dystrophy, limb-girdle type 2A
1488CAPN3
1489Muscular dystrophy, limb-girdle, type 2Q
1490PLEC
1491Muscular dystrophy, oculopharyngeal
1492PABPN1
1493Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A10
1494RXYLT1
1495Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
1496B4GAT1
1497Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
1498POMT2
1499Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
1500POMGNT1
1501Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8
1502POMGNT2
1503Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1
1504POMT1
1505Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B2
1506POMT2
1507Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3
1508POMGNT1
1509Muscular dystrophy-dystroglycanopathy (limb-girdle), type C2
1510POMT2
1511Muscular dystrophy-dystroglycanopathy (limb-girdle), type C3
1512POMGNT1
1513Muscular dystrophy-dystroglycanopathy (limb-girdle), type C9
1514DAG1
1515Muscular-skeletal disorder, CAPN1 related
1516CAPN1
1517Myasthenia congenital with tubular aggregates 1
1518GFPT1
1519Myasthenic syndrome associated with acetylcholine receptor deficiency
1520MUSK
1521Myasthenic syndrome due to mutation in SCN4A
1522SCN4A
1523Myasthenic syndrome, congenital
1524AGRN
1525Myasthenic syndrome, congenital
1526CHAT
1527Myasthenic syndrome, congenital
1528CHRNB1
1529Myasthenic syndrome, congenital
1530CHRNE
1531Myasthenic syndrome, congenital, fast channel
1532CHRNA1
1533Myasthenic syndrome, congenital, slow-channel
1534CHRNA1
1535Myasthenic syndrome, congenital, type 10
1536DOK7
1537Myasthenic syndrome, congenital, type 11, associated with acetylcholine receptor deficiency
1538RAPSN
1539Myasthenic syndrome, congenital, type 20, presynaptic
1540SLC5A7
1541Myasthenic syndrome, congenital, type 3A, slow channel
1542CHRND
1543Myasthenic syndrome, congenital, type 3B, fast-channel
1544CHRND
1545Myasthenic syndrome, congenital, type 3C, associated with acetylcholine receptor deficiency
1546CHRND
1547Myoclonic dystonia, DRD2 related
1548DRD2
1549Myoclonic epilepsy of Lafora
1550EPM2A
1551Myoclonic epilepsy of Lafora
1552NHLRC1
1553Myoclonus, familial cortical
1554NOL3
1555Myoglobinuria acute recurrent
1556LPIN1
1557Myopathy due to Integrin 7A deficiency
1558ITGA7
1559Myopathy due to myoadenylate deaminase deficiency
1560AMPD1
1561Myopathy with extrapyramidal signs
1562MICU1
1563Myopathy with fiber-type disproportion
1564ACTA1
1565Myopathy with fiber-type disproportion
1566SELENON
1567Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
1568MEGF10
1569Myopathy, COL6A6 related
1570COL6A6
1571Myopathy, desmin related, associated with mutation in the CRYAB gene
1572CRYAB
1573Myopathy, distal type 1
1574MYH7
1575Myopathy, distal type 4
1576FLNC
1577Myopathy, distal with anterior tibial onset
1578DYSF
1579Myopathy, distal, Tateyama type
1580CAV3
1581Myopathy, early-onset with fatal cardiomyopathy
1582TTN
1583Myopathy, lactic acidosis, and sideroblastic anemia type 2
1584YARS2
1585Myopathy, limb girdle with bone fragility
1586MTAP
1587Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
1588GFER
1589Myopathy, MT-TQ related
1590MT-TQ
1591Myopathy, myofibrillar type 6
1592BAG3
1593Myopathy, myofibrillar, Desmin related
1594DES
1595Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related
1596CRYAB
1597Myopathy, myofibrillar, ZASP related
1598LDB3
1599Myopathy, scapulohumeroperoneal
1600ACTA1
1601Myopathy, tubular aggregate, type 1
1602STIM1
1603Myosclerosis, autosomal recessive
1604COL6A2
1605Myosin storage myopathy
1606MYH7
1607Myotilinopathy
1608MYOT
1609Myotonia congenita
1610CLCN1
1611Myotonic dystrophy type 1
1612DMPK
1613Myotonic dystrophy type 2
1614CNBP
1615Myotubular myopathy X-linked
1616MTM1
1617Narcolepsy
1618HCRT
1619Nemaline myopathy type 1
1620TPM3
1621Nemaline myopathy type 2, autosomal recessive
1622NEB
1623Nemaline myopathy type 3
1624ACTA1
1625Nemaline myopathy type 4
1626TPM2
1627Nemaline myopathy type 5
1628TNNT1
1629Nemaline myopathy type 6
1630KBTBD13
1631Nemaline myopathy type 7
1632CFL2
1633Neonatal death due Leigh syndrome, MT-TV related
1634MT-TV
1635Neurodegeneration due to cerebral folate transport deficiency
1636FOLR1
1637Neurodegeneration with brain iron accululation type 5
1638WDR45
1639Neurodegeneration with brain iron accumulation type 4
1640C19orf12
1641Neurodegeneration with brain iron accumulation type 6
1642COASY
1643Neurodegeneration with brain iron accumulation, GTPBP2 related
1644GTPBP2
1645Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
1646BRAT1
1647Neurodevelopmental disorder, ADAM22 related
1648ADAM22
1649Neurodevelopmental disorder, APC2-related
1650APC2
1651Neurodevelopmental disorder, CNTNAP4 related
1652CNTNAP4
1653Neurodevelopmental disorder, CROCC related
1654CROCC
1655Neurodevelopmental disorder, FRMPD4 related
1656FRMPD4
1657Neurodevelopmental disorder, KCTD3 related
1658KCTD3
1659Neurodevelopmental disorder, MACF1 related
1660MACF1
1661Neurodevelopmental disorder, MTOR related
1662MTOR
1663Neurodevelopmental disorder, NGEF related
1664NGEF
1665Neurodevelopmental disorder, PIGQ related
1666PIGQ
1667Neurodevelopmental disorder, TUBB related
1668TUBB
1669Neurodevelopmental disorder, ZNF311 related
1670ZNF311
1671Neurodevelopmental malformation and microcephaly
1672KIF2A
1673Neurodevelopmental malformation and microcephaly
1674KIF5C
1675Neurodevelopmental malformation and microcephaly
1676TUBG1
1677Neurogenic scapuloperoneal syndrome, Kaeser type
1678DES
1679Neuromyotonia and axonal neuropathy, autosomal recessive
1680HINT1
1681Neuronal migration disorder
1682CTNNA2
1683Neuronal migration disorder
1684EOMES
1685Neuronal migration disorder
1686SPTBN5
1687Neuronal migration disorder
1688SRGAP2
1689Neuronopathy distal hereditary motor type 2A
1690HSPB8
1691Neuronopathy distal hereditary motor type 2B
1692HSPB1
1693Neuronopathy distal hereditary motor type 5
1694GARS1
1695Neuronopathy distal hereditary motor type 6
1696IGHMBP2
1697Neuronopathy distal hereditary motor type 7B
1698DCTN1
1699Neuropathy sensor type 1E
1700DNMT1
1701Neuropathy with liability to pressure palsies [HNPP]
1702PMP22
1703Neuropathy with sensory ataxic, dysarthria, and ophthalmoparesis
1704POLG
1705Neuropathy, distal hereditary motor, type 5A
1706BSCL2
1707Neuropathy, hereditary sensory and autonomic type 1C
1708SPTLC2
1709Neuropathy, hereditary sensory and autonomic type 2
1710SCN9A
1711Neuropathy, hereditary sensory and autonomic type 6
1712DST
1713Neuropathy, hereditary sensory, type 1D
1714ATL1
1715Neuropathy, hereditary sensory, type 1F
1716ATL3
1717Neuropathy, hereditary sensory, with spastic paraplegia
1718CCT5
1719Neutral lipid storage disease with myopathy
1720PNPLA2
1721Niemann-Pick disease type C1
1722NPC1
1723Nonaka myopathy
1724GNE
1725Norrie disease
1726NDP
1727Occipital horn syndrome
1728ATP7A
1729Opitz G syndrome
1730MID1
1731Oral-facial-digital syndrome type 1
1732OFD1
1733Pantothenate kinase-associated neurodegeneration
1734PANK2
1735Paramyotonia congenita of von Eulenburg
1736SCN4A
1737Parietal foramina type 2
1738ALX4
1739PARK1 Parkinson
1740SNCA
1741PARK13 Parkinson
1742HTRA2
1743PARK14 Parkinson
1744PLA2G6
1745PARK15 Parkinson
1746FBXO7
1747PARK17 Parkinson
1748VPS35
1749PARK19 Parkinson, juvenile-onset
1750DNAJC6
1751PARK2 Parkinson
1752PRKN
1753PARK20 Parkinson
1754SYNJ1
1755PARK21 Parkinson
1756DNAJC13
1757PARK4 Parkinson
1758SNCA
1759PARK5 Parkinson
1760UCHL1
1761PARK6 Parkinson
1762PINK1
1763PARK7 Parkinson
1764PARK7
1765PARK8 Parkinson
1766LRRK2
1767PARK9 Parkinson
1768ATP13A2
1769Parkinson disease, late-onset, susceptibility to
1770GBA
1771Parkinson disease, susceptibility to, MT-TT related
1772MT-TT
1773Parkinsonism with spasticity, X-linked
1774ATP6AP2
1775Parkinsonism-Dystonia, infantile
1776SLC6A3
1777Paroxysmal exercise-induced dyskinesia with epilepsy and/or hemolytic anemia
1778SLC2A1
1779Paroxysmal nonkinesigenic dyskinesia
1780PNKD
1781Partington syndrome
1782ARX
1783Pelizaeus-Merzbacher disease
1784PLP1
1785Pelizaeus-Merzbacher disease
1786SLC16A2
1787Peripheral demyelinating neuropathy Waardenburg syndrome and Hirschsprung disease
1788SOX10
1789Periventricular heterotopia with microcephaly
1790ARFGEF2
1791Peroxisome biogenesis disorder 14B
1792PEX11B
1793Peroxisome biogenesis disorder type 10A
1794PEX3
1795Peroxisome biogenesis disorder type 1B
1796PEX1
1797Peroxisome biogenesis disorder type 2A
1798PEX5
1799Peroxisome biogenesis disorder type 2B
1800PEX5
1801Perrault syndrome
1802HSD17B4
1803Perrault syndrome type 2
1804HARS2
1805Perrault syndrome type 4
1806LARS2
1807Perrault syndrome type 5
1808TWNK
1809Phosphoglycerate kinase 1 deficiency
1810PGK1
1811Pick disease
1812PSEN1
1813Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
1814TREM2
1815Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
1816TYROBP
1817Polyglucosan body myopathy type 1 with or without immunodeficiency
1818RBCK1
1819Polymicrogyria bilateral occipital
1820NR2E1
1821Pompe disease
1822GAA
1823Pontocerebellar hypoplasia type 1A
1824VRK1
1825Pontocerebellar hypoplasia type 1B
1826EXOSC3
1827Pontocerebellar hypoplasia type 2A
1828TSEN54
1829Pontocerebellar hypoplasia type 2B
1830TSEN2
1831Pontocerebellar hypoplasia type 2C
1832TSEN34
1833Pontocerebellar hypoplasia type 2D
1834SEPSECS
1835Pontocerebellar hypoplasia type 2E
1836VPS53
1837Pontocerebellar hypoplasia type 4
1838TSEN54
1839Pontocerebellar hypoplasia type 5
1840TSEN54
1841Pontocerebellar hypoplasia type 6
1842RARS2
1843Pontocerebellar hypoplasia type 8
1844CHMP1A
1845Pontocerebellar hypoplasia, type 10
1846CLP1
1847Pontocerebellar hypoplasia, type 9
1848AMPD2
1849Porencephaly type 2
1850COL4A2
1851Potassium-aggravated myotonia
1852SCN4A
1853Prader-Willi syndrome
1854chr. 15q11
1855Prader-Willi syndrome
1856NDN
1857Prader-Willi syndrome
1858SNRPN
1859Primary lateral sclerosis, juvenile
1860ALS2
1861Progressive external ophthalmoplegia with mitochondrial deletions type 1, autosomal dominant
1862POLG
1863Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal dominant
1864SLC25A4
1865Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal recessive
1866RNASEH1
1867Progressive external ophthalmoplegia with mitochondrial deletions type 3, autosomal dominant
1868TWNK
1869Progressive external ophthalmoplegia with mitochondrial deletions type 4, autosomal dominant
1870POLG2
1871Progressive external ophthalmoplegia with mitochondrial deletions type 5, autosomal dominant
1872RRM2B
1873Progressive myoclonus epilepsy type 1A
1874PRICKLE1
1875Progressive myoclonus epilepsy type 3
1876KCTD7
1877Progressive myoclonus epilepsy type 6
1878GOSR2
1879Progressive myoclonus epilepsy type 8
1880CERS1
1881Psychomotor retardation
1882TANC1
1883Ptosis, congenital
1884ZFHX4
1885Pyridoxine-dependent epilepsy
1886ALDH7A1
1887Pyruvate carboxylase deficiency
1888PC
1889Raynaud-Claes syndrome
1890CLCN4
1891Renpenning syndrome
1892PQBP1
1893Rett syndrome preserved speech variant
1894MECP2
1895Rigid spine muscular dystrophy
1896SELENON
1897Rippling muscle disease
1898CAV3
1899Rolandic epilepsy, mental retardation, and speech dyspraxia
1900SRPX2
1901Roussy-Levy syndrome
1902PMP22
1903Salih ataxia
1904RUBCN
1905Scapuloperoneal myopathy, MYH7 related
1906MYH7
1907Schizophrenia, CALR related
1908CALR
1909Schizophrenia, CELSR2 related
1910CELSR2
1911Schizophrenia, GRID2 related
1912GRID2
1913Schizophrenia, NOTCH4 related
1914NOTCH4
1915Schwartz-Jampel syndrome type 1
1916HSPG2
1917Segawa syndrome, autosomal recessive
1918TH
1919Seizures, benign familial infantile, type 2
1920PRRT2
1921Seizures, benign neonatal, type 1
1922KCNQ2
1923Seizures, benign neonatal, type 2
1924KCNQ3
1925SESAME syndrome
1926KCNJ10
1927Sialuria, finish type
1928SLC17A5
1929Simpson-Golabi-Behmel syndrome type 1
1930GPC3
1931Sjogren-Larsson syndrome
1932ALDH3A2
1933Slowed nerve conduction velocity, autosomanal dominant
1934ARHGEF10
1935Smith-Magenis syndrome
1936RAI1
1937Smith-Magenis syndrome, ULK2 related
1938ULK2
1939Spastic ataxia Charlevoix-Saguenay type
1940SACS
1941Spastic ataxia type 1, autosomal dominant
1942VAMP1
1943Spastic ataxia type 2, autosomal recessive
1944KIF1C
1945Spastic ataxia type 3, autosomal recessive
1946MARS2
1947Spastic ataxia type 4, autosomal recessive
1948MTPAP
1949Spastic ataxia type 5, autosomal recessive
1950AFG3L2
1951Spastic paralysis, infantile onset ascending
1952ALS2
1953Spastic paraplegia type 74, autosomal recessive
1954IBA57
1955SPG1
1956L1CAM
1957SPG10
1958KIF5A
1959SPG11
1960SPG11
1961SPG12
1962RTN2
1963SPG13
1964HSPD1
1965SPG15
1966ZFYVE26
1967SPG17
1968BSCL2
1969SPG18
No.Description
1301Mental retardation, X-linked, nonsyndromic
1302NEXMIF
1303Mental retardation, X-linked, Siderius type
1304PHF8
1305Mental retardation, X-linked, Snyder-Robinson type
1306SMS
1307Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
1308OPHN1
1309Mental retardation, X-linked, with isolated growth hormone deficiency
1310SOX3
1311MERRF syndrome, MT-TK related
1312MT-TK
1313MERRF syndrome, MT-TP related
1314MT-TP
1315MERRF/MELAS overlap syndrome, MT-TS1 related
1316MT-TS1
1317MERRF/MELAS overlap syndrome, MT-TS2 related
1318MT-TS2
1319Metachromatic leukodystrophy due to Saposin B deficiency
1320PSAP
1321Methionine adenosyltransferase deficiency, autosomal recessive
1322MAT1A
1323Microcephaly-capillary malformation syndrome
1324STAMBP
1325Minicore myopathy with external ophthalmoplegia
1326RYR1
1327Mirror movements type 1
1328DCC
1329Mirror movements type 2
1330RAD51
1331Mirror movements type 3
1332DNAL4
1333Mitochondrial complex I deficiency
1334FOXRED1
1335Mitochondrial complex I deficiency
1336MT-ND1
1337Mitochondrial complex I deficiency
1338MT-ND2
1339Mitochondrial complex I deficiency
1340MT-ND3
1341Mitochondrial complex I deficiency
1342MT-ND4
1343Mitochondrial complex I deficiency
1344MT-ND4L
1345Mitochondrial complex I deficiency
1346MT-ND5
1347Mitochondrial complex I deficiency
1348MT-ND6
1349Mitochondrial complex I deficiency
1350NDUFA1
1351Mitochondrial complex I deficiency
1352NDUFA11
1353Mitochondrial complex I deficiency
1354NDUFAF1
1355Mitochondrial complex I deficiency
1356NDUFAF3
1357Mitochondrial complex I deficiency
1358NDUFAF4
1359Mitochondrial complex I deficiency
1360NDUFAF5
1361Mitochondrial complex I deficiency
1362NDUFB3
1363Mitochondrial complex I deficiency
1364NDUFS1
1365Mitochondrial complex I deficiency
1366NDUFS2
1367Mitochondrial complex I deficiency
1368NDUFS4
1369Mitochondrial complex I deficiency
1370NDUFS6
1371Mitochondrial complex I deficiency
1372NDUFV1
1373Mitochondrial complex I deficiency
1374NDUFV2
1375Mitochondrial complex I deficiency, MT-TN related
1376MT-TN
1377Mitochondrial complex II deficiency
1378SDHAF1
1379Mitochondrial complex II deficiency
1380SDHD
1381Mitochondrial complex III deficiency
1382BCS1L
1383Mitochondrial complex III deficiency
1384UQCRB
1385Mitochondrial complex III deficiency
1386UQCRC2
1387Mitochondrial complex III deficiency
1388UQCRQ
1389Mitochondrial complex III deficiency, nuclear type 2
1390TTC19
1391Mitochondrial complex III deficiency, nuclear type 7
1392UQCC2
1393Mitochondrial complex IV deficiency
1394COA8
1395Mitochondrial complex IV deficiency
1396COX6B1
1397Mitochondrial complex IV deficiency
1398FASTKD2
1399Mitochondrial complex IV deficiency
1400MT-CO3
1401Mitochondrial complex IV deficiency
1402PET100
1403Mitochondrial complex V (ATP synthase) deficiency
1404MT-ATP6
1405Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
1406ATPAF2
1407Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
1408TMEM70
1409Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3
1410ATP5F1E
1411Mitochondrial complex V deficiency, nuclear type 4
1412ATP5F1A
1413Mitochondrial Disorders, AKAP1 related
1414AKAP1
1415Mitochondrial DNA depletion syndrome
1416DGUOK
1417Mitochondrial DNA depletion syndrome
1418SUCLA2
1419Mitochondrial DNA depletion syndrome
1420TK2
1421Mitochondrial DNA depletion syndrome 8B, MNGIE type
1422RRM2B
1423Mitochondrial DNA depletion syndrome type 11
1424MGME1
1425Mitochondrial DNA depletion syndrome type 13
1426FBXL4
1427Mitochondrial DNA depletion syndrome type 4A
1428POLG
1429Mitochondrial DNA depletion syndrome type 4B
1430POLG
1431Mitochondrial DNA depletion syndrome type 6
1432MPV17
1433Mitochondrial DNA depletion syndrome type 7
1434TWNK
1435Mitochondrial DNA depletion syndrome, encephalomyopathic type with methylmalonic aciduria
1436SUCLG1
1437Mitochondrial encephalomyopathy
1438MFF
1439Mitochondrial encephalomyopathy
1440MT-CYB
1441Mitochondrial myopathy and sideroblastic anemia type 1
1442PUS1
1443Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy
1444POLG
1445Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy
1446TYMP
1447Mitochondrial respiratory chain complex II deficiency
1448SDHA
1449Mitochondrial respiratory chain disease, TIMM21 related
1450TIMM21
1451Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
1452ECHS1
1453Miyoshi muscular dystrophy type 3
1454ANO5
1455Miyoshi myopathy
1456DYSF
1457Multiple congenital anomalies-hypotonia-seizures syndrome type 3
1458PIGT
1459Multiple mitochondrial dysfunctions syndrome type 1
1460NFU1
1461Multiple mitochondrial dysfunctions syndrome type 2
1462BOLA3
1463Multiple mitochondrial dysfunctions syndrome type 3
1464IBA57
1465Multiple mitochondrial dysfunctions syndrome type 4
1466ISCA2
1467Multisystemic smooth muscle dysfunction syndrome
1468ACTA2
1469Muscle hypertrophy
1470MSTN
1471Muscle-eye-brain disease, POMK related
1472POMK
1473Muscular dystrophy type 1A
1474LAMA2
1475Muscular dystrophy type 1C
1476FKRP
1477Muscular dystrophy type 1D
1478LARGE1
1479Muscular dystrophy, Becker type
1480DMD
1481Muscular dystrophy, congenital, LMNA related
1482LMNA
1483Muscular dystrophy, congenital, megaconial type
1484CHKB
1485Muscular dystrophy, Duchenne type
1486DMD
1487Muscular dystrophy, limb-girdle type 2A
1488CAPN3
1489Muscular dystrophy, limb-girdle, type 2Q
1490PLEC
1491Muscular dystrophy, oculopharyngeal
1492PABPN1
1493Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A10
1494RXYLT1
1495Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
1496B4GAT1
1497Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
1498POMT2
1499Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
1500POMGNT1
1501Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8
1502POMGNT2
1503Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1
1504POMT1
1505Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B2
1506POMT2
1507Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3
1508POMGNT1
1509Muscular dystrophy-dystroglycanopathy (limb-girdle), type C2
1510POMT2
1511Muscular dystrophy-dystroglycanopathy (limb-girdle), type C3
1512POMGNT1
1513Muscular dystrophy-dystroglycanopathy (limb-girdle), type C9
1514DAG1
1515Muscular-skeletal disorder, CAPN1 related
1516CAPN1
1517Myasthenia congenital with tubular aggregates 1
1518GFPT1
1519Myasthenic syndrome associated with acetylcholine receptor deficiency
1520MUSK
1521Myasthenic syndrome due to mutation in SCN4A
1522SCN4A
1523Myasthenic syndrome, congenital
1524AGRN
1525Myasthenic syndrome, congenital
1526CHAT
1527Myasthenic syndrome, congenital
1528CHRNB1
1529Myasthenic syndrome, congenital
1530CHRNE
1531Myasthenic syndrome, congenital, fast channel
1532CHRNA1
1533Myasthenic syndrome, congenital, slow-channel
1534CHRNA1
1535Myasthenic syndrome, congenital, type 10
1536DOK7
1537Myasthenic syndrome, congenital, type 11, associated with acetylcholine receptor deficiency
1538RAPSN
1539Myasthenic syndrome, congenital, type 20, presynaptic
1540SLC5A7
1541Myasthenic syndrome, congenital, type 3A, slow channel
1542CHRND
1543Myasthenic syndrome, congenital, type 3B, fast-channel
1544CHRND
1545Myasthenic syndrome, congenital, type 3C, associated with acetylcholine receptor deficiency
1546CHRND
1547Myoclonic dystonia, DRD2 related
1548DRD2
1549Myoclonic epilepsy of Lafora
1550EPM2A
1551Myoclonic epilepsy of Lafora
1552NHLRC1
1553Myoclonus, familial cortical
1554NOL3
1555Myoglobinuria acute recurrent
1556LPIN1
1557Myopathy due to Integrin 7A deficiency
1558ITGA7
1559Myopathy due to myoadenylate deaminase deficiency
1560AMPD1
1561Myopathy with extrapyramidal signs
1562MICU1
1563Myopathy with fiber-type disproportion
1564ACTA1
1565Myopathy with fiber-type disproportion
1566SELENON
1567Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
1568MEGF10
1569Myopathy, COL6A6 related
1570COL6A6
1571Myopathy, desmin related, associated with mutation in the CRYAB gene
1572CRYAB
1573Myopathy, distal type 1
1574MYH7
1575Myopathy, distal type 4
1576FLNC
1577Myopathy, distal with anterior tibial onset
1578DYSF
1579Myopathy, distal, Tateyama type
1580CAV3
1581Myopathy, early-onset with fatal cardiomyopathy
1582TTN
1583Myopathy, lactic acidosis, and sideroblastic anemia type 2
1584YARS2
1585Myopathy, limb girdle with bone fragility
1586MTAP
1587Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
1588GFER
1589Myopathy, MT-TQ related
1590MT-TQ
1591Myopathy, myofibrillar type 6
1592BAG3
1593Myopathy, myofibrillar, Desmin related
1594DES
1595Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related
1596CRYAB
1597Myopathy, myofibrillar, ZASP related
1598LDB3
1599Myopathy, scapulohumeroperoneal
1600ACTA1
1601Myopathy, tubular aggregate, type 1
1602STIM1
1603Myosclerosis, autosomal recessive
1604COL6A2
1605Myosin storage myopathy
1606MYH7
1607Myotilinopathy
1608MYOT
1609Myotonia congenita
1610CLCN1
1611Myotonic dystrophy type 1
1612DMPK
1613Myotonic dystrophy type 2
1614CNBP
1615Myotubular myopathy X-linked
1616MTM1
1617Narcolepsy
1618HCRT
1619Nemaline myopathy type 1
1620TPM3
1621Nemaline myopathy type 2, autosomal recessive
1622NEB
1623Nemaline myopathy type 3
1624ACTA1
1625Nemaline myopathy type 4
1626TPM2
1627Nemaline myopathy type 5
1628TNNT1
1629Nemaline myopathy type 6
1630KBTBD13
1631Nemaline myopathy type 7
1632CFL2
1633Neonatal death due Leigh syndrome, MT-TV related
1634MT-TV
1635Neurodegeneration due to cerebral folate transport deficiency
1636FOLR1
1637Neurodegeneration with brain iron accululation type 5
1638WDR45
1639Neurodegeneration with brain iron accumulation type 4
1640C19orf12
1641Neurodegeneration with brain iron accumulation type 6
1642COASY
1643Neurodegeneration with brain iron accumulation, GTPBP2 related
1644GTPBP2
1645Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
1646BRAT1
1647Neurodevelopmental disorder, ADAM22 related
1648ADAM22
1649Neurodevelopmental disorder, APC2-related
1650APC2
1651Neurodevelopmental disorder, CNTNAP4 related
1652CNTNAP4
1653Neurodevelopmental disorder, CROCC related
1654CROCC
1655Neurodevelopmental disorder, FRMPD4 related
1656FRMPD4
1657Neurodevelopmental disorder, KCTD3 related
1658KCTD3
1659Neurodevelopmental disorder, MACF1 related
1660MACF1
1661Neurodevelopmental disorder, MTOR related
1662MTOR
1663Neurodevelopmental disorder, NGEF related
1664NGEF
1665Neurodevelopmental disorder, PIGQ related
1666PIGQ
1667Neurodevelopmental disorder, TUBB related
1668TUBB
1669Neurodevelopmental disorder, ZNF311 related
1670ZNF311
1671Neurodevelopmental malformation and microcephaly
1672KIF2A
1673Neurodevelopmental malformation and microcephaly
1674KIF5C
1675Neurodevelopmental malformation and microcephaly
1676TUBG1
1677Neurogenic scapuloperoneal syndrome, Kaeser type
1678DES
1679Neuromyotonia and axonal neuropathy, autosomal recessive
1680HINT1
1681Neuronal migration disorder
1682CTNNA2
1683Neuronal migration disorder
1684EOMES
1685Neuronal migration disorder
1686SPTBN5
1687Neuronal migration disorder
1688SRGAP2
1689Neuronopathy distal hereditary motor type 2A
1690HSPB8
1691Neuronopathy distal hereditary motor type 2B
1692HSPB1
1693Neuronopathy distal hereditary motor type 5
1694GARS1
1695Neuronopathy distal hereditary motor type 6
1696IGHMBP2
1697Neuronopathy distal hereditary motor type 7B
1698DCTN1
1699Neuropathy sensor type 1E
1700DNMT1
1701Neuropathy with liability to pressure palsies [HNPP]
1702PMP22
1703Neuropathy with sensory ataxic, dysarthria, and ophthalmoparesis
1704POLG
1705Neuropathy, distal hereditary motor, type 5A
1706BSCL2
1707Neuropathy, hereditary sensory and autonomic type 1C
1708SPTLC2
1709Neuropathy, hereditary sensory and autonomic type 2
1710SCN9A
1711Neuropathy, hereditary sensory and autonomic type 6
1712DST
1713Neuropathy, hereditary sensory, type 1D
1714ATL1
1715Neuropathy, hereditary sensory, type 1F
1716ATL3
1717Neuropathy, hereditary sensory, with spastic paraplegia
1718CCT5
1719Neutral lipid storage disease with myopathy
1720PNPLA2
1721Niemann-Pick disease type C1
1722NPC1
1723Nonaka myopathy
1724GNE
1725Norrie disease
1726NDP
1727Occipital horn syndrome
1728ATP7A
1729Opitz G syndrome
1730MID1
1731Oral-facial-digital syndrome type 1
1732OFD1
1733Pantothenate kinase-associated neurodegeneration
1734PANK2
1735Paramyotonia congenita of von Eulenburg
1736SCN4A
1737Parietal foramina type 2
1738ALX4
1739PARK1 Parkinson
1740SNCA
1741PARK13 Parkinson
1742HTRA2
1743PARK14 Parkinson
1744PLA2G6
1745PARK15 Parkinson
1746FBXO7
1747PARK17 Parkinson
1748VPS35
1749PARK19 Parkinson, juvenile-onset
1750DNAJC6
1751PARK2 Parkinson
1752PRKN
1753PARK20 Parkinson
1754SYNJ1
1755PARK21 Parkinson
1756DNAJC13
1757PARK4 Parkinson
1758SNCA
1759PARK5 Parkinson
1760UCHL1
1761PARK6 Parkinson
1762PINK1
1763PARK7 Parkinson
1764PARK7
1765PARK8 Parkinson
1766LRRK2
1767PARK9 Parkinson
1768ATP13A2
1769Parkinson disease, late-onset, susceptibility to
1770GBA
1771Parkinson disease, susceptibility to, MT-TT related
1772MT-TT
1773Parkinsonism with spasticity, X-linked
1774ATP6AP2
1775Parkinsonism-Dystonia, infantile
1776SLC6A3
1777Paroxysmal exercise-induced dyskinesia with epilepsy and/or hemolytic anemia
1778SLC2A1
1779Paroxysmal nonkinesigenic dyskinesia
1780PNKD
1781Partington syndrome
1782ARX
1783Pelizaeus-Merzbacher disease
1784PLP1
1785Pelizaeus-Merzbacher disease
1786SLC16A2
1787Peripheral demyelinating neuropathy Waardenburg syndrome and Hirschsprung disease
1788SOX10
1789Periventricular heterotopia with microcephaly
1790ARFGEF2
1791Peroxisome biogenesis disorder 14B
1792PEX11B
1793Peroxisome biogenesis disorder type 10A
1794PEX3
1795Peroxisome biogenesis disorder type 1B
1796PEX1
1797Peroxisome biogenesis disorder type 2A
1798PEX5
1799Peroxisome biogenesis disorder type 2B
1800PEX5
1801Perrault syndrome
1802HSD17B4
1803Perrault syndrome type 2
1804HARS2
1805Perrault syndrome type 4
1806LARS2
1807Perrault syndrome type 5
1808TWNK
1809Phosphoglycerate kinase 1 deficiency
1810PGK1
1811Pick disease
1812PSEN1
1813Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
1814TREM2
1815Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
1816TYROBP
1817Polyglucosan body myopathy type 1 with or without immunodeficiency
1818RBCK1
1819Polymicrogyria bilateral occipital
1820NR2E1
1821Pompe disease
1822GAA
1823Pontocerebellar hypoplasia type 1A
1824VRK1
1825Pontocerebellar hypoplasia type 1B
1826EXOSC3
1827Pontocerebellar hypoplasia type 2A
1828TSEN54
1829Pontocerebellar hypoplasia type 2B
1830TSEN2
1831Pontocerebellar hypoplasia type 2C
1832TSEN34
1833Pontocerebellar hypoplasia type 2D
1834SEPSECS
1835Pontocerebellar hypoplasia type 2E
1836VPS53
1837Pontocerebellar hypoplasia type 4
1838TSEN54
1839Pontocerebellar hypoplasia type 5
1840TSEN54
1841Pontocerebellar hypoplasia type 6
1842RARS2
1843Pontocerebellar hypoplasia type 8
1844CHMP1A
1845Pontocerebellar hypoplasia, type 10
1846CLP1
1847Pontocerebellar hypoplasia, type 9
1848AMPD2
1849Porencephaly type 2
1850COL4A2
1851Potassium-aggravated myotonia
1852SCN4A
1853Prader-Willi syndrome
1854chr. 15q11
1855Prader-Willi syndrome
1856NDN
1857Prader-Willi syndrome
1858SNRPN
1859Primary lateral sclerosis, juvenile
1860ALS2
1861Progressive external ophthalmoplegia with mitochondrial deletions type 1, autosomal dominant
1862POLG
1863Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal dominant
1864SLC25A4
1865Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal recessive
1866RNASEH1
1867Progressive external ophthalmoplegia with mitochondrial deletions type 3, autosomal dominant
1868TWNK
1869Progressive external ophthalmoplegia with mitochondrial deletions type 4, autosomal dominant
1870POLG2
1871Progressive external ophthalmoplegia with mitochondrial deletions type 5, autosomal dominant
1872RRM2B
1873Progressive myoclonus epilepsy type 1A
1874PRICKLE1
1875Progressive myoclonus epilepsy type 3
1876KCTD7
1877Progressive myoclonus epilepsy type 6
1878GOSR2
1879Progressive myoclonus epilepsy type 8
1880CERS1
1881Psychomotor retardation
1882TANC1
1883Ptosis, congenital
1884ZFHX4
1885Pyridoxine-dependent epilepsy
1886ALDH7A1
1887Pyruvate carboxylase deficiency
1888PC
1889Raynaud-Claes syndrome
1890CLCN4
1891Renpenning syndrome
1892PQBP1
1893Rett syndrome preserved speech variant
1894MECP2
1895Rigid spine muscular dystrophy
1896SELENON
1897Rippling muscle disease
1898CAV3
1899Rolandic epilepsy, mental retardation, and speech dyspraxia
1900SRPX2
1901Roussy-Levy syndrome
1902PMP22
1903Salih ataxia
1904RUBCN
1905Scapuloperoneal myopathy, MYH7 related
1906MYH7
1907Schizophrenia, CALR related
1908CALR
1909Schizophrenia, CELSR2 related
1910CELSR2
1911Schizophrenia, GRID2 related
1912GRID2
1913Schizophrenia, NOTCH4 related
1914NOTCH4
1915Schwartz-Jampel syndrome type 1
1916HSPG2
1917Segawa syndrome, autosomal recessive
1918TH
1919Seizures, benign familial infantile, type 2
1920PRRT2
1921Seizures, benign neonatal, type 1
1922KCNQ2
1923Seizures, benign neonatal, type 2
1924KCNQ3
1925SESAME syndrome
1926KCNJ10
1927Sialuria, finish type
1928SLC17A5
1929Simpson-Golabi-Behmel syndrome type 1
1930GPC3
1931Sjogren-Larsson syndrome
1932ALDH3A2
1933Slowed nerve conduction velocity, autosomanal dominant
1934ARHGEF10
1935Smith-Magenis syndrome
1936RAI1
1937Smith-Magenis syndrome, ULK2 related
1938ULK2
1939Spastic ataxia Charlevoix-Saguenay type
1940SACS
1941Spastic ataxia type 1, autosomal dominant
1942VAMP1
1943Spastic ataxia type 2, autosomal recessive
1944KIF1C
1945Spastic ataxia type 3, autosomal recessive
1946MARS2
1947Spastic ataxia type 4, autosomal recessive
1948MTPAP
1949Spastic ataxia type 5, autosomal recessive
1950AFG3L2
1951Spastic paralysis, infantile onset ascending
1952ALS2
1953Spastic paraplegia type 74, autosomal recessive
1954IBA57
1955SPG1
1956L1CAM
1957SPG10
1958KIF5A
1959SPG11
1960SPG11
1961SPG12
1962RTN2
1963SPG13
1964HSPD1
1965SPG15
1966ZFYVE26
1967SPG17
1968BSCL2
1969SPG18

Metabolic Syndrome
Modal Title

Metabolic Syndrome

No.Description
17-hydroxylation activity deficiency
2CYP17A1
32,4-dienoyl-CoA reductase 1
4DECR1
52,4-dienoyl-CoA reductase deficiency
6NADK2
72-aminoadipic 2-oxoadipic aciduria
8DHTKD1
92-methylbutyrylglycinuria
10ACADSB
113-beta-hydroxysteroid dehydrogenase deficiency type 2
12HSD3B2
133-hydroxy-3-methylglutaryl-CoA lyase deficiency
14HMGCL
153-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency
16HMGCS2
173-hydroxyacyl-CoA dehydrogenase deficiency
18HADH
193-hydroxyisobutryl-CoA hydrolase deficiency
20HIBCH
213-methylcrontonyl-CoA carboxylase 1 deficiency
22MCCC1
233-methylcrontonyl-CoA carboxylase 2 deficiency
24MCCC2
253-methylglutaconic aciduria type 1
26AUH
273-methylglutaconic aciduria type 3
28OPA3
293-methylglutaconic aciduria type 5
30DNAJC19
313-methylglutaconic aciduria type 7, with cataracts, neurologic involvement and neutropenia
32CLPB
333-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
34SERAC1
356q24-related transient neonatal diabetes mellitus type 1
36UPD chr. 6
37Abetalipoproteinemia
38MTTP
39Acatalasemia
40CAT
41Acetycholinesterase deficiency
42ACHE
43Acetyl-CoA carboxylase deficiency
44ACACA
45Acute Alcohol sensitivity
46ALDH2
47Acute hepatic porphyria
48ALAD
49Acyl-CoA medium-chain dehydrogenase deficiency
50ACADM
51Acyl-CoA multiple dehydrogenase deficiency
52ETFA
53Acyl-CoA multiple dehydrogenase deficiency
54ETFB
55Acyl-CoA short-chain dehydrogenase deficiency
56ACADS
57Acyl-CoA very long-chain dehydrogenase deficiency
58ACADVL
59Adenine phosphoribosyltransferase deficiency
60APRT
61Adenylosuccinase deficiency
62ADSL
63Adrenal hyperplasia due to 21-hydroxylase deficiency
64CYP21A2
65Adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
66POR
67Adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency
68CYP11B1
69Adrenal hypoplasia
70NR0B1
71AICA-ribosiduria due to ATIC deficiency
72ATIC
73Alkaptonuria
74HGD
75Alpha-2-macroglobulin deficiency
76A2M
77Alpha-ketoglutarate dehydrogenase deficiency
78OGDH
79Alpha-methylacyl CoA racemase deficiency
80AMACR
81Aminoacylase deficiency
82ACY1
83AMP deaminase deficiency, erythrocytic
84AMPD3
85Amyloidosis, familial visceral
86APOA1
87Andersen disease
88GBE1
89Anemia dyserythropoietic type 1A
90CDAN1
91Anemia dyserythropoietic type 2
92SEC23B
93Antitrypsin-alpha-1 deficiency
94SERPINA1
95Aplastic anemia
96PRF1
97Aplastic anemia, SBDS related
98SBDS
99Apolipoprotein A-II deficiency
100APOA2
101Apolipoprotein C-II deficiency
102APOC2
103Apparent mineralocorticoid excess
104HSD11B2
105Arginase deficiency
106ARG1
107Arginine-glycine amidinotransferase deficiency
108GATM
109Argininosuccinic aciduria
110ASL
111Aromatic L-amino acid decarboxylase deficiency (AADC)
112DDC
113Asparaginesynthetase deficiency
114ASNS
115Aspartylglucosaminuria
116AGA
117Beta-Galactosamide alpha-2,6-Sialyltransferase 2 deficiency
118ST6GAL2
119Beta-ureidopropionase deficiency
120UPB1
121Bile acid malabsorption, primary
122SLC10A2
123Bile acid synthesis defect type 1, congenital
124HSD3B7
125Bile acid synthesis defect type 2, congenital
126AKR1D1
127Bile acid synthesis defect type 3, congenital
128CYP7B1
129Bile acid synthesis defect type 4, congenital
130AMACR
131Bile acid synthesis defect type 5, congenital
132ABCD3
133Biotinidase deficiency
134BTD
135Bloom syndrome
136BLM
137Branched-chain aminotransferase 1 deficiency
138BCAT1
139Branched-chain aminotransferase 2 deficiency
140BCAT2
141Branched-chain ketoacid dehydrogenase kinase deficiency
142BCKDK
143Bronchiectasis with or without elevated sweat chloride type 2
144SCNN1A
145Butyrylcholinesterase deficiency
146BCHE
147Carbamoylphosphate synthetase I deficiency
148CPS1
149Carnitine deficiency
150SLC22A5
151Carnitine palmitoyltransferase 1A deficiency
152CPT1A
153Carnitine palmitoyltransferase 1B deficiency
154CPT1B
155Carnitine palmitoyltransferase 2 deficiency, infantile
156CPT2
157Carnitine palmitoyltransferase 2 deficiency, lethal neonatal
158CPT2
159Carnitine-acylcarnitine translocase deficiency
160SLC25A20
161Catechol-o-methyltransferase deficiency
162COMT
163Ceroid lipofuscinosis neuronal type 1
164PPT1
165Ceroid lipofuscinosis neuronal type 10
166CTSD
167Ceroid lipofuscinosis neuronal type 11
168GRN
169Ceroid lipofuscinosis neuronal type 2
170TPP1
171Ceroid lipofuscinosis neuronal type 3
172CLN3
173Ceroid lipofuscinosis neuronal type 4
174DNAJC5
175Ceroid lipofuscinosis neuronal type 5
176CLN5
177Ceroid lipofuscinosis neuronal type 6
178CLN6
179Ceroid lipofuscinosis neuronal type 7
180MFSD8
181Ceroid lipofuscinosis neuronal type 8
182CLN8
183Chanarin-Dorfman syndrome
184ABHD5
185Chloramphenicol resistance, MT-RNR2 related
186MT-RNR2
187Cholestasis benign recurrent intrahepatic type 2
188ABCB11
189Cholestasis intrahepatic, of pregnancy, type 3
190ABCB4
191Cholestasis progressive intrahepatic type 1
192ATP8B1
193Cholestasis progressive intrahepatic type 2
194ABCB11
195Cholestasis progressive intrahepatic type 3
196ABCB4
197Cholestasis, benign recurrent intrahepatic
198ATP8B1
199Cholestasis, intrahepatic, of pregnancy, type 1
200ATP8B1
201Cholesteryl ester storage disease
202LIPA
203Chylomicron retention disease
204SAR1B
205Citrin deficiency
206SLC25A13
207Citrullinemia
208ASS1
209Coenzyme Q10 deficiency type 6
210COQ6
211Coenzyme Q10 deficiency type 7
212COQ4
213Colchicine resistance
214ABCB1
215Combined D-2- and L-2-hydroxyglutaric aciduria
216SLC25A1
217Combined malonic and methylmalonic aciduria
218ACSF3
219Combined oxidative phosphorylation deficiency type 1
220GFM1
221Combined oxidative phosphorylation deficiency type 10
222MTO1
223Combined oxidative phosphorylation deficiency type 11
224RMND1
225Combined oxidative phosphorylation deficiency type 12
226EARS2
227Combined oxidative phosphorylation deficiency type 13
228PNPT1
229Combined oxidative phosphorylation deficiency type 14
230FARS2
231Combined oxidative phosphorylation deficiency type 15
232MTFMT
233Combined oxidative phosphorylation deficiency type 16
234MRPL44
235Combined oxidative phosphorylation deficiency type 17
236ELAC2
237Combined oxidative phosphorylation deficiency type 18
238SFXN4
239Combined oxidative phosphorylation deficiency type 19
240LYRM4
241Combined oxidative phosphorylation deficiency type 2
242MRPS16
243Combined oxidative phosphorylation deficiency type 20
244VARS2
245Combined oxidative phosphorylation deficiency type 21
246TARS2
247Combined oxidative phosphorylation deficiency type 22
248ATP5F1A
249Combined oxidative phosphorylation deficiency type 23
250GTPBP3
251Combined oxidative phosphorylation deficiency type 24
252NARS2
253Combined oxidative phosphorylation deficiency type 25
254MARS2
255Combined oxidative phosphorylation deficiency type 26
256TRMT5
257Combined oxidative phosphorylation deficiency type 3
258TSFM
259Combined oxidative phosphorylation deficiency type 4
260TUFM
261Combined oxidative phosphorylation deficiency type 5
262MRPS22
263Combined oxidative phosphorylation deficiency type 6
264AIFM1
265Combined oxidative phosphorylation deficiency type 7
266C12ORF65
267Combined oxidative phosphorylation deficiency type 8
268AARS2
269Combined oxidative phosphorylation deficiency type 9
270MRPL3
271Congenital disorder of glycosylation, type Ip
272ALG11
273Congenital disorder of glycosylation, type Iq
274SRD5A3
275Congenital disorder of glycosylation, type Iw
276STT3A
277Coproporphyria
278CPOX
279Coronary artery disease, susceptibility to
280LPA
281Coumarin resistance
282VKORC1
283Coumarin/Warfarin resistance due to CYP2C9 variants
284CYP2C9
285CR1 deficiency
286CR1
287Creatine deficiency syndrome X-linked
288SLC6A8
289CYP2C19 related poor drug metabolism
290CYP2C19
291Cystathioninuria
292CTH
293Cystic fibrosis
294CFTR
295Cystic fibrosis, SLC6A14 related
296SLC6A14
297Cystinosis, nephropathic
298CTNS
299Cytochrome P450 deficiency
300CYP1A2
301D-2-hydroxyglutaric aciduria type 1
302D2HGDH
303D-2-hydroxyglutaric aciduria type 2
304IDH2
305D-bifunctional protein deficiency
306HSD17B4
307D-glyceric aciduria
308GLYCTK
309Diabetes insipidus, nephrogenic, X-linked
310AVPR2
311Diabetes insipidus, neurohypophyseal
312AVP
313Diabetes mellitus type 1
314INS
315Diabetes mellitus, insulin-dependent type 20
316HNF1A
317Diabetes mellitus, insulin-resistant with acanthosis nigricans
318INSR
319Diabetes mellitus, neonatal
320GLIS3
321Diabetes mellitus, noninsulin-dependent
322ABCC8
323Diabetes mellitus, noninsulin-dependent
324AKT2
325Diabetes mellitus, noninsulin-dependent
326KCNJ11
327Diabetes mellitus, permanent neonatal
328ABCC8
329Diabetes mellitus, transient neonatal type 2
330ABCC8
331Diabetes, IGF2 related
332IGF2
333Diarrhea type 1, secretory chloride, congenital
334SLC26A3
335Diarrhea type 3, secretory sodium, congenital, syndromic
336SPINT2
337Diarrhea type 4, malabsorptive, congenital
338NEUROG3
339Dihydropyrimidine dehydrogenase deficiency
340DPYD
341Dihydropyrimidinuria
342DPYS
343Dimethylglycine dehydrogenase deficiency
344DMGDH
345Dyggve-Melchior-Clausen disease
346DYM
347Efavirenz, poor metabolism of
348CYP2B6
349Enterokinase deficiency
350TMPRSS15
351Erythrocyte lactate transporter defect
352SLC16A1
353Fabry disease
354GLA
355Factor II deficiency
356F2
357Factor V deficiency
358F5
359Factor XIIIB deficiency
360F13B
361Fanconi anemia type A
362FANCA
363Fanconi anemia type B
364FANCB
365Fanconi anemia type C
366FANCC
367Fanconi anemia type D1
368BRCA2
369Fanconi anemia type D2
370FANCD2
371Fanconi anemia type E
372FANCE
373Fanconi anemia type F
374FANCF
375Fanconi anemia type G
376FANCG
377Fanconi anemia type I
378FANCI
379Fanconi anemia type J
380BRIP1
381Fanconi anemia type L
382FANCL
383Fanconi anemia type M
384FANCM
385Fanconi anemia type N
386PALB2
387Fanconi anemia type P
388SLX4
389Fanconi anemia, XRCCR2 related
390XRCC2
391Fanconi-Bickel syndrome
392SLC2A2
393Farber disease
394ASAH1
395Favism, susceptibility to
396G6PD
397Fish eye disease
398LCAT
399Fructose intolerance
400ALDOB
401Fructose uptake deficiency, SLC2A5 related
402SLC2A5
403Fructose-1,6-bisphosphatase deficiency
404FBP1
405Fructosuria essential
406KHK
407Fucosidosis
408FUCA1
409Fumarase deficiency
410FH
411GABA-transaminase deficiency
412ABAT
413Galactokinase deficiency
414GALK1
415Galactose epimerase deficiency
416GALE
417Galactosemia
418GALT
419Galactosialidosis
420CTSA
421Gallbladder disease type 1
422ABCB4
423Gaucher disease type 1
424GBA
425Gaucher disease type 2
426GBA
427Gaucher disease type 3
428GBA
429Gaucher disease type 3C
430GBA
431Gaucher disease, atypical
432PSAP
433Gaucher disease, perinatal lethal
434GBA
435Glucocorticoid deficiency type 1
436MC2R
437Glucocorticoid deficiency type 2
438MRAP
439Glucocorticoid deficiency type 4, with or without mineralocorticoid deficiency
440NNT
441Glucose/Galactose malabsorption
442SLC5A1
443Glutamate formiminotransferase deficiency
444FTCD
445Glutamine deficiency, congenital
446GLUL
447Glutaric acidemia type 1
448GCDH
449Glutaric acidemia type 2C
450ETFDH
451Glutaric aciduria type 3
452SUGCT
453Glutathione S-transferase theta-1 defficiency
454GSTT1
455Glutathione synthetase deficiency
456GSS
457Glycerol kinase deficiency
458GK
459Glycine encephalopathy with normal serum glycine
460SLC6A9
461Glycogen storage disease of heart (lethal)
462PRKAG2
463Glycogen storage disease type 0
464GYS2
465Glycogen storage disease type 0 muscle
466GYS1
467Glycogen storage disease type 10
468PGAM2
469Glycogen storage disease type 11
470LDHA
471Glycogen storage disease type 12
472ALDOA
473Glycogen storage disease type 13
474ENO3
475Glycogen storage disease type 14
476PGM1
477Glycogen storage disease type 15
478GYG1
479Glycogen storage disease type 1A
480G6PC
481Glycogen storage disease type 2
482GAA
483Glycogen storage disease type 3
484AGL
485Glycogen storage disease type 4
486GBE1
487Glycogen storage disease type 5
488PYGM
489Glycogen storage disease type 6B
490PYGL
491Glycogen storage disease type 7
492PFKM
493Glycogen storage disease type 9A
494PHKA2
495Glycogen storage disease type 9B
496PHKB
497Glycogen storage disease type 9C
498PHKG2
499Glycosylation disorder type 1A
500PMM2
501Glycosylation disorder type 1B
502MPI
503Glycosylation disorder type 1C
504ALG6
505Glycosylation disorder type 1D
506ALG3
507Glycosylation disorder type 1E
508DPM1
509Glycosylation disorder type 1F
510MPDU1
511Glycosylation disorder type 1G
512ALG12
513Glycosylation disorder type 1H
514ALG8
515Glycosylation disorder type 1I
516ALG2
517Glycosylation disorder type 1J
518DPAGT1
519Glycosylation disorder type 1K
520ALG1
521Glycosylation disorder type 1L
522ALG9
523Glycosylation disorder type 1M
524DOLK
525Glycosylation disorder type 1N
526RFT1
527Glycosylation disorder type 1O
528DPM3
529Glycosylation disorder type 1S
530ALG13
531Glycosylation disorder type 1U
532DPM2
533Glycosylation disorder type 2A
534MGAT2
535Glycosylation disorder type 2B
536MOGS
537Glycosylation disorder type 2C
538SLC35C1
539Glycosylation disorder type 2D
540B4GALT1
541Glycosylation disorder type 2E
542COG7
543Glycosylation disorder type 2F
544SLC35A1
545Glycosylation disorder type 2G
546COG1
547Glycosylation disorder type 2H
548COG8
549Glycosylation disorder type 2I
550COG5
551Glycosylation disorder type 2J
552COG4
553Glycosylation disorder type 2K
554TMEM165
555Glycosylation disorder type 2M
556SLC35A2
557Glycosylation disorder type 3
558COG6
559Glycosylation disorder type IR
560DDOST
561Glycosylation disorder x-linked
562SSR4
563GM1-gangliosidosis type 1
564GLB1
565GM1-gangliosidosis type 2
566GLB1
567GM2-gangliosidosis type 2
568HEXB
569Guanidinoacetate methyltransferase deficiency
570GAMT
571Hartnup disorder
572SLC6A19
573Hawkinsinuria
574HPD
575HDL deficiency, type 2
576ABCA1
577Hemochromatosis classical
578HFE
579Hemochromatosis type 2A
580HJV
581Hemochromatosis type 2B
582HAMP
583Hemochromatosis type 3
584TFR2
585Hemochromatosis type 4
586SLC40A1
587Hemolytic anemia due to G6PD deficiency
588G6PD
589Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency
590GPI
591Hemophilia A
592F8
593High density lipoprotein cholesterol level QTL 10
594CETP
595Holocarboxylase synthetase deficiency
596HLCS
597Hurler syndrome
598IDUA
599Hurler-Scheie syndrome
600IDUA
601Hydrops, lactic acidosis, and sideroblastic anemia
602LARS2
603Hyperalphalipoproteinemia
604CETP
605Hyperammonemia due to carbonic anhydrase VA deficiency
606CA5A
607Hypercalcemia infantile type
608CYP24A1
609Hyperchlorhidrosis, isolated
610CA12
611Hypercholanemia
612BAAT
613Hypercholanemia
614TJP2
615Hypercholesterolemia autosomal dominant type 3
616PCSK9
617Hypercholesterolemia autosomal recessive
618LDLRAP1
619Hypercholesterolemia due to LDL-receptor-disorder autosomal dominant
620LDLR
621Hypercholesterolemia type B autosomanl dominant
622APOB
623Hypercholesterolemia, familial, due to LDLR defect, modifier of
624EPHX2
625Hypercholesterolemia, familial, modifier of
626APOA2
627Hypercholesterolemia, susceptibility to
628ITIH4
629Hypercholesterolemia, susceptibility to
630PPP1R17
631Hyperchylomicronemia type 5
632APOA5
633Hyperinsulinaemia, association with, G6PC2 related
634G6PC2
635Hyperinsulinemic hypoglycemia type 1
636ABCC8
637Hyperinsulinemic hypoglycemia type 2
638KCNJ11
639Hyperinsulinemic hypoglycemia type 3
640GCK
641Hyperinsulinemic hypoglycemia type 6
642GLUD1
643Hyperinsulinemic hypoglycemia type 7
644SLC16A1
645Hyperinsulinism, UCP2 related
646UCP2
647Hyperlipidemia, familial combined, susceptibility to
648USF1
649Hyperlipoproteinemia type 1
650LPL
651Hyperlysinemia type 1
652AASS
653Hypermanganesemia with dystonia, polycythemia and cirrhosis
654SLC30A10
655Hypermethioninemia due to adenosine kinase deficiency
656ADK
657Hyperornithinemia- Hyperammonemia - Homocitrullinuria syndrome
658SLC25A15
659Hyperoxaluria type 1
660AGXT
661Hyperoxaluria type 2
662GRHPR
663Hyperoxaluria type 3
664HOGA1
665Hyperoxaluria, SLC26A6 related
666SLC26A6
667Hyperphenylalaninemia, BH4 deficient, type C
668QDPR
669Hyperphenylalaninemia, BH4 deficient, type D
670PCBD1
671Hyperphenylalaninemia, BH4-deficient, type A
672PTS
673Hyperprolinemia type 1
674PRODH
675Hyperprolinemia type 2
676ALDH4A1
677Hypertriglyceridemia, susceptibility to
678LIPI
679Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
680SARS2
681Hypoaldosteronism congenital due to CMO I deficiency
682CYP11B2
683Hypoaldosteronism, congenital, due to CMO II deficiency
684CYP11B2
685Hypoalphalipoproteinemia
686APOA1
687Hypobetalipoproteinemia type 1
688APOB
689Hypocalcemia, autosomal dominant 2
690GNA11
691Hypocalciuric hypercalcemia, familial type 3
692AP2S1
693Hypoglycemia of infancy, leucine-sensitive
694ABCC8
695Hypoinsulinemic hypoglycemia with hemihypertrophy
696AKT2
697Hypomagnesemia type 1
698TRPM6
699Hypomagnesemia type 2
700FXYD2
701Hypomagnesemia type 3
702CLDN16
703Hypomagnesemia type 4
704EGF
705Hypomagnesemia type 5
706CLDN19
707Hypomagnesemia type 6
708CNNM2
709Hypophosphatasia, adult
710ALPL
711Hypophosphatasia, childhood
712ALPL
713Hypophosphatasia, infantile
714ALPL
715Hypophosphatemic rickets with hypercalciuria
716SLC34A3
717Hypophosphatemic rickets, autosomal dominant
718FGF23
719Hypouricemia, renal type 1
720SLC22A12
721Hypouricemia, renal type 2
722SLC2A9
723Insulin-like growth factor resistance
724IGF1R
725Isobutyryl-CoA dehydrogenase deficiency
726ACAD8
727Isovaleric acidemia
728IVD
729Krabbe disease
730GALC
731Krabbe disease, atypical
732PSAP
733L-2-hydroxyglutaric aciduria
734L2HGDH
735Lactase deficiency, congenital
736LCT
737Lactate dehydrogenase-B deficiency
738LDHB
739Lacticacidemia due to PDX1 deficiency
740PDHX
741Lactose intolerance, adult type
742MCM6
743LCAD deficiency
744ACADL
745LCAT DEFICIENCY
746LCAT
747Leukocyte adhesion deficiency
748ITGB1
749Leukocyte adhesion deficiency
750ITGB2
751Lipodystrophy generalized type 1
752AGPAT2
753Lipodystrophy generalized type 2
754BSCL2
755Lipodystrophy generalized type 4
756CAVIN1
757Lipodystrophy type 2, familial partial
758LMNA
759Lipodystrophy, familial partial, type 3
760PPARG
761Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
762HADHA
763LPA deficiency, congenital
764LPA
765Lung alpha-beta hydrolase deficiency type 1
766ABHD1
767Lysosomal acid phosphatase deficiency
768ACP2
769Malonyl-CoA decarboxylase deficiency
770MLYCD
771Mannose-binding protein deficiency
772MBL2
773Mannosidosis, beta A, lysosomal-like
774MANBAL
775Mannosidosis-alpha
776MAN2B1
777Mannosidosis-beta
778MANBA
779Maple syrup urine disease type 1a
780BCKDHA
781Maple syrup urine disease type 1b
782BCKDHB
783Maple syrup urine disease type 2
784DBT
785Maple syrup urine disease type 3
786DLD
787Maple syrup urine disease, mild variant
788PPM1K
789Maturity-onset diabetes of the young type 1
790HNF4A
791Maturity-onset diabetes of the young type 10
792INS
793Maturity-onset diabetes of the young type 11
794BLK
795Maturity-onset diabetes of the young type 2
796GCK
797Maturity-onset diabetes of the young type 3
798HNF1A
799Maturity-onset diabetes of the young type 4
800PDX1
801Maturity-onset diabetes of the young type 5
802HNF1B
803Maturity-onset diabetes of the young type 6
804NEUROD1
805Maturity-onset diabetes of the young type 7
806KLF11
807Maturity-onset diabetes of the young type 8
808CEL
809Maturity-onset diabetes of the young type 9
810PAX4
811Maturity-onset diabetes of the young, NKX2-2 related
812NKX2-2
813Maturity-onset diabetes of the young, RFX6 related
814RFX6
815Maturity-onset diabetes of the young, ZFP57 related
816ZFP57
817Mediterranean fever
818MEFV
819MELAS syndrome, MT-TL1 related
820MT-TL1
821Metachromatic Leukodystrophy
822ARSA
823Methylacetoacetic aciduria
824ACAT1
825Methylcobalamin deficiency CblG type
826MTR
827Methylmalonate semialdehyde dehydrogenase deficiency
828ALDH6A1
829Methylmalonic aciduria CblA type
830MMAA
831Methylmalonic aciduria CblB type
832MMAB
833Methylmalonic aciduria CblC type
834MMACHC
835Methylmalonic aciduria CblD type
836MMADHC
837Methylmalonic aciduria CblF type
838LMBRD1
839Methylmalonic aciduria CblJ type
840ABCD4
841Methylmalonic aciduria CblR type
842CD320
843Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
844MMUT
845Methylmalonyl-CoA epimerase deficiency
846MCEE
847Mevalonic aciduria
848MVK
849Microvascular complications of diabetes type 1
850VEGFA
851Microvascular complications of diabetes type 6, susceptibility to
852SOD2
853Mirage syndrome
854SAMD9
855Mitchell-Riley syndrome
856RFX6
857Mitochondrial complex III deficiency, nuclear type 7
858UQCC2
859Mitochondrial phosphate carrier deficiency
860SLC25A3
861Mitochondrial pyruvate carrier deficiency
862MPC1
863Molybdenum cofactor deficiency type A
864MOCS1
865Molybdenum cofactor deficiency type B
866MOCS2
867Molybdenum cofactor deficiency type C
868GPHN
869Monocarboxylate transporter 1 deficiency
870SLC16A1
871Mucolipidosis type 2 alpha/beta
872GNPTAB
873Mucolipidosis type 3
874GNPTAB
875Mucolipidosis type 3 gamma
876GNPTG
877Mucolipidosis type 4
878MCOLN1
879Mucopolysaccharidosis type 1H
880IDUA
881Mucopolysaccharidosis type 2
882IDS
883Mucopolysaccharidosis type 3A
884SGSH
885Mucopolysaccharidosis type 3B
886NAGLU
887Mucopolysaccharidosis type 3C
888HGSNAT
889Mucopolysaccharidosis type 3D
890GNS
891Mucopolysaccharidosis type 4A
892GALNS
893Mucopolysaccharidosis type 4B
894GLB1
895Mucopolysaccharidosis type 6
896ARSB
897Mucopolysaccharidosis type 7
898GUSB
899Mucopolysaccharidosis type 9
900HYAL1
901Muscle glycogenosis
902PHKA1
903Myopathy due to myoadenylate deaminase deficiency
904AMPD1
905N-acetylglutamate synthase deficiency
906NAGS
907Neuraminidase deficiency
908NEU1
909Niemann-Pick disease type A/B
910SMPD1
911Niemann-Pick disease type C1
912NPC1
913Niemann-Pick disease type C2
914NPC2
915Odontohypophosphatasia
916ALPL
917Ornithine transcarbamoylase deficiency
918OTC
919Orotic aciduria
920UMPS
921Pancreatic agenesis type 2
922PTF1A
923Pancreatic and cerebellar agenesis
924PTF1A
925Pentosuria
926DCXR
927Periodic fever autosomal dominant
928TNFRSF1A
929Phenylketonuria
930PAH
931Phenylketonuria modifier, SLC7A5 related
932SLC7A5
933Phosphoenolpyruvate carboxykinase deficiency, cytosolic
934PCK1
935Phosphoenolpyruvate carboxykinase deficiency, mitochondrial
936PCK2
937Phosphoglycerate dehydrogenase deficiency
938PHGDH
939Phosphoribosylpyrophosphate synthetase superactivity
940PRPS1
941Phosphoserine aminotransferase deficiency
942PSAT1
943Phosphoserine phosphatase deficiency
944PSPH
945Pituitary stalk interruption syndrome, GPR161 related
946GPR161
947Pompe disease
948GAA
949Porphyria acute intermittent
950HMBS
951Porphyria congenital erythropoietic
952UROS
953Porphyria variegata
954PPOX
955Prolidase deficiency
956PEPD
957Propionic acidemia
958PCCA
959Propionic acidemia
960PCCB
961Prosaposin deficiency
962PSAP
963Protoporphyria, erythropoietic, X-linked
964ALAS2
965Pseudohermaphroditism with gynecomastia
966HSD17B3
967Pyridoxamine 5'-phosphate oxidase deficiency
968PNPO
969Pyruvate carboxylase deficiency
970PC
971Pyruvate dehydrogenase E1-alpha deficiency
972PDHA1
973Pyruvate dehydrogenase E1-beta deficiency
974PDHB
975Pyruvate dehydrogenase E2 deficiency
976DLAT
977Pyruvate dehydrogenase lipoic acid synthetase deficiency
978LIAS
979Pyruvate dehydrogenase phosphatase deficiency
980PDP1
981Pyruvate kinase deficiency with hemolytic anemia
982PKLR
983Refsum disease
984PEX7
985Refsum disease
986PHYH
987Riboflavin deficiency
988SLC52A1
989Ribose 5-phosphate isomerase deficiency
990RPIA
991Rickets, vitamin D 25-hydroxylation-deficient, type 1B
992CYP2R1
993Rickets, vitamin D dependent, type 1
994CYP27B1
995Saccharopinuria
996AASS
997Sandhoff disease
998HEXB
999Sarcosinemia
1000SARDH
1001Scheie syndrome
1002IDUA
1003Schindler disease
1004NAGA
1005Serine hydrolase deficiency, SERHL2 related
1006SERHL2
1007Succinic semialdehyde dehydrogenase deficiency
1008ALDH5A1
1009Succinyl CoA:3-oxoacid CoA transferase deficiency
1010OXCT1
1011Sucrase-isomaltase deficiency
1012SI
1013Sulfatase deficiency
1014SUMF1
1015Sulfite oxidase deficiency
1016SUOX
1017Surfactant metabolism dysfunction
1018SFTPD
1019Surfactant metabolism dysfunction type 1
1020SFTPB
1021Surfactant metabolism dysfunction type 2
1022SFTPC
1023Surfactant metabolism dysfunction type 3
1024ABCA3
1025Surfactant metabolism dysfunction type 4
1026CSF2RA
1027Surfactant metabolism dysfunction type 5
1028CSF2RB
1029Tangier disease
1030ABCA1
1031Tay-Sachs disease
1032HEXA
1033Tay-Sachs disease AB variant
1034GM2A
1035Thiamine metabolism dysfunction syndrome type 5
1036TPK1
1037TJP1 deficiency
1038TJP1
1039TPMT deficiency
1040TPMT
1041Transaldolase deficiency
1042TALDO1
1043Transcobalamin II deficiency
1044TCN2
1045Trifunctional protein deficiency
1046HADHA
1047Trimethylaminuria
1048FMO3
1049Triosephosphate isomerase deficiency
1050TPI1
1051Tumoral calcinosis, hyperphosphatemic, familial, type 1
1052GALNT3
1053Tyrosine kinase 2 deficiency
1054TYK2
1055Tyrosinemia type 1
1056FAH
1057Tyrosinemia type 1B
1058GSTZ1
1059Tyrosinemia type 2
1060TAT
1061Tyrosinemia type 3
1062HPD
1063Urbach-Wiethe disease
1064ECM1
1065Von-Gierke disease
1066G6PC
1067Wilson disease
1068ATP7B
1069Wolman disease
1070LIPA
1071Xanthinuria type 1
1072XDH
1073Xanthinuria type 2
1074MOCOS

Vascular Disease
Modal Title

Vascular Disease

No.Description
1Angioedema, hereditary
2SERPING1
3Antithrombin III deficiency
4SERPINC1
5Aortic aneurysm, familial thoracic type 3
6TGFBR2
7Aortic aneurysm, familial thoracic type 4
8MYH11
9Aortic aneurysm, familial thoracic type 5
10TGFBR1
11Aortic aneurysm, familial thoracic type 6
12ACTA2
13Aortic aneurysm, familial thoracic type 7
14MYLK
15Aortic aneurysm, familial thoracic type 8
16PRKG1
17Aortic aneurysm, familial thoracic, MAT2A related
18MAT2A
19Aortic valve disease type 1
20NOTCH1
21Aortic valve disease type 2
22SMAD6
23Arterial calcification type 1, generalized, infantile
24ENPP1
25Arterial calcification type 2, generalized, infantile
26ABCC6
27Arterial Tortuosity Syndrome
28SLC2A10
29Atherosclerosis, SOAT1 related
30SOAT1
31Bernard Soulier syndrome type A1
32GP1BA
33Bernard Soulier syndrome type A2
34GP1BA
35Bernard Soulier syndrome type B
36GP1BB
37Bernard Soulier syndrome type C
38GP9
39CADASIL
40NOTCH3
41Capillary malformation-arteriovenous malformation
42RASA1
43CARASIL
44HTRA1
45Carotid intimal medial thickness type 1
46PPARG
47Cerebral cavernous malformations type 1
48KRIT1
49Cerebral cavernous malformations type 2
50CCM2
51Cerebral cavernous malformations type 3
52PDCD10
53Coarctation of the aorta
54MCTP2
55Coronary artery disease in familial hypercholesterolemia, protection against
56ABCA1
57Fabry disease
58GLA
59Factor II deficiency
60F2
61Factor VII deficiency
62F7
63Glycoprotein Ia C807T polymorphism
64ITGA2
65Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
66JAM3
67Homocystinuria
68MTHFR
69Homocystinuria due to cystathionine beta-synthase deficiency
70CBS
71Homocystinuria-megaloblastic anemia, cbl E type
72MTRR
73Hypertension early onset
74NR3C2
75Hypertension, ADD2 related
76ADD2
77Hypertension, salt-sensitive essential, susceptibility to
78CYP3A5
79Hypertension, susceptibility to
80NOS2
81Loeys-Dietz syndrome type 4
82TGFB2
83Moyamoya disease type 2, susceptibility to
84RNF213
85Moyamoya type 6 with achalasia
86GUCY1A3
87Myoglobinuria acute recurrent
88LPIN1
89Myopathy with lactic acidosis hereditary
90ISCU
91Orthostatic intolerance
92SLC6A2
93Parkes Weber syndrome
94RASA1
95Plasminogen activator inhibitor type 1
96SERPINE1
97Polyarteritis nodosa, childhood-onset
98ADA2
99Protein C Deficiency, AD
100PROC
101Protein S Deficiency, autosomal dominant
102PROS1
103Pseudohypoaldosteronism type 2D
104KLHL3
105Pseudohypoaldosteronism type 2E
106CUL3
107Pulmonary hypertension, primary type
108BMPR2
109Pulmonary venoocclusive disease type 1
110BMPR2
111Sneddon syndrome
112ADA2
113Stormorken syndrome
114STIM1
115Supravalvar aortic stenosis
116ELN
117Thrombophilia due to thrombin defect
118F2
119Transposition of the great arteries, dextro-looped 1
120MED13L
121Vascular system defects due to CALCRL deficiency
122CALCRL
123Vascular system defects due to GNA13 deficiency
124GNA13

Dysmorphology
Modal Title

Dysmorphology

No.Description
1Achondrogenesis type 2
2COL2A1
3Acrodysostosis type 1, with or without hormone resistance
4PRKAR1A
5Acromelic frontonasal dysostosis
6ZSWIM6
7Acromesomelic dysplasia, Maroteaux type
8NPR2
9Acromicric dysplasia
10FBN1
11Adams-Oliver syndrome type 6
12DLL4
13ADULT syndrome, split hand-foot malformation
14TP63
15Alacrima, achalasia and mental retardation syndrome
16GMPPA
17Alagille syndrome type 1
18JAG1
19Alagille syndrome type 2
20NOTCH2
21Alazami syndrome
22LARP7
23Alpha-thalassemia/mental retardation syndrome
24ATRX
25Ankyloblepharon-ectodermal defects-cleft lip/palate
26TP63
27Anterior segment mesenchymal dysgenesis
28PITX3
29Antley-Bixler syndrome
30FGFR2
31Apert syndrome
32FGFR2
33Athabaskan brainstem dysgenesis syndrome
34HOXA1
35Atrial septal defect type 2
36GATA4
37Atrial septal defect with atrioventricular conduction defects
38NKX2-5
39Atrioventricular septal defect, partial with heterotaxy syndrome
40CRELD1
41Auriculocondylar syndrome type 1
42GNAI3
43Auriculocondylar syndrome type 2
44PLCB4
45Axenfeld-Rieger syndrome type 1
46PITX2
47Axenfeld-Rieger syndrome type 3
48FOXC1
49Bainbridge-Ropers syndrome
50ASXL3
51Band-like calcification with simplified gyration and polymicrogyria
52OCLN
53Baraitser-Winter syndrome type 1
54ACTB
55Baraitser-Winter syndrome type 2
56ACTG1
57Basal cell nevus syndrome
58PTCH1
59Basal cell nevus syndrome
60SUFU
61Basal ganglia calcification type 1, ideopathic
62SLC20A2
63Basal ganglia calcification type 4
64PDGFRB
65Basal ganglia calcification type 5, idiopathic
66PDGFB
67Basal ganglia calcification type 6, idiopathic
68XPR1
69Beta-ureidopropionase deficiency
70UPB1
71Bifid nose
72FREM1
73Birt-Hogg-Dube syndrome
74FLCN
75Bjornstad syndrome
76BCS1L
77Blau syndrome
78NOD2
79Bohring-Opitz syndrome
80ASXL1
81Bone marrow failure syndrome type 2
82ERCC6L2
83Brachydactyly type A1C
84GDF5
85Brachydactyly type A2
86BMP2
87Brachydactyly type A2
88BMPR1B
89Brachydactyly type B1
90ROR2
91Brachydactyly type E1
92HOXD13
93Brachydactyly-mental retardation syndrome
94HDAC4
95Brachydactyly-syndactyly syndrome
96HOXD13
97Branchiooculofacial syndrome
98TFAP2A
99C syndrome
100CD96
101Campomelic dysplasia
102SOX9
103Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
104PRG4
105Camurati-Engelmann disease
106TGFB1
107Cantu syndrome
108ABCC9
109Carpenter syndrome
110RAB23
111Carpenter syndrome type 2
112MEGF8
113Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
114IARS2
115Caudal regression syndrome
116VANGL1
117Central hypoventilation syndrome with or without Hirschsprung disease
118PHOX2B
119Central hypoventilation syndrome, congenital
120ASCL1
121Central hypoventilation syndrome, congenital
122BDNF
123Central hypoventilation syndrome, congenital
124ECE1
125Central hypoventilation syndrome, congenital
126EDN3
127Central hypoventilation syndrome, congenital
128GDNF
129Central hypoventilation syndrome, congenital
130GFRA1
131Central hypoventilation syndrome, congenital
132MECP2
133Central hypoventilation syndrome, congenital
134PHOX2A
135Central hypoventilation syndrome, congenital
136RET
137Central hypoventilation syndrome, congenital
138ZEB2
139Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome
140SNAP29
141Cerebrooculofacioskeletal syndrome type 1
142ERCC6
143Cerebrooculofacioskeletal syndrome type 4
144ERCC1
145Char syndrome
146TFAP2B
147CHARGE syndrome
148CHD7
149CHIME syndrome
150PIGL
151Chondrodysplasia with joint dislocations, GPAPP type
152IMPAD1
153Chondrodysplasia, Blomstrand type
154PTH1R
155Choroideremia
156CHM
157Chrondrodysplasia, acromesomelic, with genital anomalies
158BMPR1B
159Chudley-McCullough syndrome
160GPSM2
161Cleft palate, cardiac defects, and mental retardation
162MEIS2
163Club foot
164PITX1
165Cockayne syndrome type A
166ERCC8
167Cockayne syndrome type B
168ERCC6
169CODAS syndrome
170LONP1
171Coffin-Siris syndrome, SMARCE1 related
172SMARCE1
173Cold-induced sweating syndrome
174CRLF1
175Cold-induced sweating syndrome type 2
176CLCF1
177Congenital heart defects and ectodermal dysplasia
178PRKD1
179Congenital heart disease and transposition of the great arteries
180FOXH1
181Congenital short-bowel syndrome
182CLMP
183Corpus callosum, agenesis of, with abnormal genitalia
184ARX
185Cortical malformations, occipital
186LAMC3
187Costello syndrome
188HRAS
189Cousin syndrome
190TBX15
191Craniodiaphyseal dysplasia, autosomal dominant
192SOST
193Cranioectodermal dysplasia type 1
194IFT122
195Cranioectodermal dysplasia type 2
196WDR35
197Cranioectodermal dysplasia type 3
198IFT43
199Cranioectodermal dysplasia type 4
200WDR19
201Craniofacial and neuro-developmental abnormalities
202DISP1
203Craniofacial and neuro-developmental abnormalities, JAG2 related
204JAG2
205Craniofacial anomalies and anterior segment dysgenesis syndrome
206VSX1
207Craniofrontonasal syndrome
208EFNB1
209Craniometaphyseal dysplasia
210ANKH
211Craniosynostosis and dental anomalies
212IL11RA
213Craniosynostosis type 1
214TWIST1
215Craniosynostosis type 2
216MSX2
217Craniosynostosis type 3
218TCF12
219Craniosynostosis type 4
220ERF
221Craniosynostosis type 6
222ZIC1
223Craniosynostosis, FGFR1 related
224FGFR1
225Craniosynostosis, nonspecific
226FGFR2
227Crouzon syndrome
228FGFR2
229Currarino syndrome
230MNX1
231Czech dysplasia
232COL2A1
233D-bifunctional protein deficiency
234HSD17B4
235Dandy-Walker malformation and occipital cephaloceles, LAMC1 related
236LAMC1
237De Sanctis-Cacchione syndrome
238ERCC6
239Desanto-Shinawi syndrome
240WAC
241Desbuquois dysplasia type 1
242CANT1
243Desbuquois dysplasia type 2
244XYLT1
245Desmosterolosis
246DHCR24
247Diamond Blackfan anemia type 15 with mandibulofacial dysostosis
248RPS28
249Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis
250TSR2
251DiGeorge syndrome
252TBX1
253Donnai-Barrow syndrome
254LRP2
255DOOR syndrome
256TBC1D24
257Duane Retraction syndrome
258SALL4
259Dysmorphism, HMG20B related
260HMG20B
261Ectodactyly, ectodermal dysplasia, and cleft lip/palate syndrome type 3
262TP63
263Ellis-van Creveld syndrome
264EVC
265Ellis-van Creveld syndrome
266EVC2
267Epiphyseal dysplasia, multiple, with myopia and deafness
268COL2A1
269Faciogenital dysplasia
270FGD1
271Fanconi anemia, complementation group Q
272ERCC4
273Feingold syndrome
274MYCN
275Fetal akinesia deformation sequence
276DOK7
277Fetal akinesia deformation sequence
278RAPSN
279Fibrochondrogenesis type 1
280COL11A1
281Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly
282WNT7A
283FILS syndrome
284POLE
285Fraser syndrome
286FRAS1
287Fraser syndrome
288FREM2
289Fraser syndrome
290GRIP1
291Frontonasal dysplasia type 1
292ALX3
293Frontonasal dysplasia type 2
294ALX4
295Fumarase deficiency
296FH
297Galloway-Mowat syndrome
298WDR73
299Geleophysic dysplasia type 2
300FBN1
301Genitopatellar syndrome
302KAT6B
303Glass syndrome
304SATB2
305Goldberg-Shprintzen megacolon syndrome
306KIF1BP
307GRACILE syndrome
308BCS1L
309Greenberg skeletal dysplasia
310LBR
311Greig cephalopolysyndactyly syndrome
312GLI3
313Growth hormone insensitivity, partial
314GHR
315Growth retardation with deafness and mental retardation due to IGF1 deficiency
316IGF1
317Growth retardation, developmental delay, facial dysmorphism
318FTO
319Guttmacher syndrome
320HOXA13
321Hamamy syndrome
322IRX5
323Hand-foot-uterus syndrome
324HOXA13
325Hartsfield syndrome
326FGFR1
327Heart-hand syndrome, Slovenian type
328LMNA
329Helsmoortel-van der Aa syndrome
330ADNP
331Hennekam lymphangiectasia-lymphedema syndrome type 2
332FAT4
333Heterotaxy, visceral type 1
334ZIC3
335Heterotaxy, visceral type 2
336CFC1
337Heterotaxy, visceral type 4
338ACVR2B
339Heterotaxy, visceral type 5
340NODAL
341Heterotaxy, visceral type 6
342CFAP53
343Heterotaxy, visceral type 7
344MMP21
345Heterotaxy, visceral type 8, autosomal
346PKD1L1
347Heterotaxy, visceral, BCL9L related
348BCL9L
349Hirschsprung disease
350ECE1
351Hirschsprung disease
352EDN3
353Hirschsprung disease
354EDNRB
355Hirschsprung disease
356KIF1BP
357Hirschsprung disease
358NRG1
359Hirschsprung disease
360NRTN
361Hirschsprung disease
362RET
363Hirschsprung disease
364ZEB2
365Hirschsprung disease, type 3, susceptibility to
366GDNF
367Holoprosencephaly type 11
368CDON
369Holoprosencephaly type 2
370SIX3
371Holoprosencephaly type 3
372SHH
373Holoprosencephaly type 4
374TGIF1
375Holoprosencephaly type 5
376ZIC2
377Holoprosencephaly-type 9
378GLI2
379Holt-Oram syndrome
380TBX5
381Hutchinson-Gilford progeria
382LMNA
383Hydranencephaly, Fowler type
384FLVCR2
385Hydrolethalus syndrome
386HYLS1
387Hypermethioninemia due to adenosine kinase deficiency
388ADK
389Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
390AHCY
391Hyperphosphatasia with mental retardation syndrome type 1
392PIGV
393Hyperphosphatasia with mental retardation syndrome type 2
394PIGO
395Hyperphosphatasia with mental retardation syndrome type 3
396PGAP2
397Hyperphosphatasia with mental retardation syndrome type 4
398PGAP3
399Hyperphosphatasia with mental retardation syndrome type 5
400PIGW
401Hypogonadism, alopecia, Diabetes mellitus, mental retardation and extrapyramidal syndrome
402DCAF17
403Hypogonadotropic hypogonadism type 6 with or without anosmia
404FGF8
405Hypospadias type 1, X-linked
406AR
407Hypospadias type 2, X-linked
408MAMLD1
409IMAGE syndrome
410CDKN1C
411Immunodeficiency-centromeric instability-facial anomalies syndrome type 2
412ZBTB24
413Intestinal atresia, multiple
414TTC7A
415IVIC syndrome
416SALL4
417Jackson-Weiss syndrome
418FGFR1
419Jackson-Weiss syndrome
420FGFR2
421Jawad syndrome
422RBBP8
423Kabuki syndrome type 1
424KMT2D
425Kabuki syndrome type 2
426KDM6A
427Kagami-Ogata syndrome
428paternal UPD chr. 14
429Kallmann syndrome type 2
430FGFR1
431Kallmann syndrome type 4
432PROK2
433Kallmann syndrome type 5
434CHD7
435KBG syndrome
436ANKRD11
437Keutel syndrome
438MGP
439Kleefstra syndrome
440EHMT1
441Klippel-Feil syndrome type 1, autosomal dominant
442GDF6
443Klippel-Feil syndrome type 2, autosomal dominant
444MEOX1
445Klippel-Feil syndrome type 3, autosomal dominant
446GDF3
447Klippel-Feil syndrome type 4, autosomal dominant, with myopathy and facial dysmorphism
448MYO18B
449Kniest dysplasia
450COL2A1
451Koolen syndrome
452KANSL1
453LADD syndrome
454FGF10
455LADD syndrome
456FGFR2
457Langer-Giedion syndrome
458EXT1
459Langer-Giedion syndrome
460TRPS1
461Larsen syndrome
462FLNB
463Left-right axis malformations
464LEFTY2
465Legionnaire disease, susceptibility to
466TLR5
467Lenz-Majewski hyperostotic dwarfism
468PTDSS1
469LEOPARD syndrome type 3
470BRAF
471Lethal congenital contracture syndrome type 1
472GLE1
473Lethal congenital contracture syndrome type 4
474MYBPC1
475Limb-mammary syndrome
476TP63
477Lissencephaly type 1
478PAFAH1B1
479Lissencephaly type 2 (Norman-Roberts type)
480RELN
481Lissencephaly type 3
482TUBA1A
483Lissencephaly type 5
484LAMB1
485Lissencephaly, X-linked type 1
486DCX
487Lissencephaly, X-linked type 2
488ARX
489Lujan-Fryns syndrome
490MED12
491Lymphedema-distichiasis syndrome
492FOXC2
493Macrocephaly, alopecia, cutis laxa, and scoliosis
494RIN2
495Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
496POLD1
497Mandibuloacral dysplasia
498LMNA
499Mandibulofacial dysostosis with microcephaly
500EFTUD2
501Marden-Walker syndrome
502PIEZO2
503Marfan lipodystrophy syndrome
504FBN1
505Marfan syndrome
506FBN1
507Martsolf syndrome
508RAB3GAP2
509MASS syndrome
510FBN1
511McLeod syndrome with or without chronic granulomatous disease
512XK
513Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
514PIK3R2
515Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2
516AKT3
517Meier-Gorlin syndrome type 1
518ORC1
519Meier-Gorlin syndrome type 2
520ORC4
521Meier-Gorlin syndrome type 4
522CDT1
523Mental retardation and distinctive facial features with or without cardiac defects
524MED13L
525Mental retardation, autosomal dominant type 13
526DYNC1H1
527Mental retardation, truncal obesity, retinal dystrophy, and micropenis
528INPP5E
529Mental retardation, X-linked syndromic, Turner type
530HUWE1
531Metaphyseal anadysplasia type 1
532MMP13
533Metaphyseal anadysplasia type 2
534MMP9
535Microcephalic osteodysplastic primordial dwarfism type 2
536PCNT
537Microcephaly and chorioretinopathy with or without mental retardation
538TUBGCP6
539Microcephaly with cortical malformations, autosomal recessive type 2
540WDR62
541Microcephaly with epilepsy and diabetes syndrome
542IER3IP1
543Microcephaly with or without chorioretinopathy, Lymphedema, or Mental retardation, MCLMR
544KIF11
545Microcephaly with symplified gyral pattern and insulin-dependant diabetes
546GFM2
547Microcephaly, Amish type
548SLC25A19
549Microcephaly, AP4M1 related
550AP4M1
551Microcephaly, autosomal recessive type 1
552MCPH1
553Microcephaly, autosomal recessive type 11
554PHC1
555Microcephaly, autosomal recessive type 12
556CDK6
557Microcephaly, autosomal recessive type 13
558CENPE
559Microcephaly, autosomal recessive type 3
560CDK5RAP2
561Microcephaly, autosomal recessive type 4
562KNL1
563Microcephaly, autosomal recessive type 5
564ASPM
565Microcephaly, autosomal recessive type 6
566CENPJ
567Microcephaly, autosomal recessive type 7
568STIL
569Microcephaly, autosomal recessive type 8
570CEP135
571Microcephaly, autosomal recessive type 9
572CEP152
573Microcephaly, CEP63 related
574CEP63
575Microcephaly, MRE11A related
576MRE11
577Microcephaly, MSMO1 related
578MSMO1
579Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy
580QARS1
581Microcephaly, short stature, and polymicrogyria with seizures
582RTTN
583Microcephaly, TUBB2B related
584TUBB2B
585Miller Dieker lissencephaly syndrome
586YWHAE
587Mitochondrial complex III deficiency, nuclear type 7
588UQCC2
589Mitochondrial myopathy and sideroblastic anemia type 1
590PUS1
591Mosaic variegated aneuploidy syndrome type 2
592CEP57
593Mulibrey nanism
594TRIM37
595Multiple congenital anomalies-hypotonia-seizures syndrome type 1
596PIGN
597Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
598B3GAT3
599Myhre syndrome
600SMAD4
601Native American myopathy
602STAC3
603Neuroaxonal neurodegeneration, infantile, with facial dysmophism
604NALCN
605Neuroblastoma type 3, susceptibility to, familial
606ALK
607Nicolaides Baraitser syndrome
608SMARCA2
609Nijmegen breakage syndrome
610NBN
611Noonan syndrom like
612SHOC2
613Noonan syndrome type 1
614PTPN11
615Noonan syndrome type 10
616LZTR1
617Noonan syndrome type 3
618KRAS
619Noonan syndrome type 4
620SOS1
621Noonan syndrome type 5
622RAF1
623Noonan syndrome type 6
624NRAS
625Noonan syndrome type 7
626BRAF
627Noonan syndrome type 8
628RIT1
629Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia
630CBL
631Oculodentodigital dysplasia
632GJA1
633Ogden syndrome
634NAA10
635Olmsted syndrome
636TRPV3
637Opitz-Kaveggia syndrome
638MED12
639Orofacial cleft type 10
640SUMO1
641Orofacial cleft type 11
642BMP4
643Orofacial cleft type 5
644MSX1
645Orofacial cleft type 6
646IRF6
647Orofacial cleft type 7
648NECTIN1
649Orofaciodigital syndrome type 14
650C2CD3
651Orofaciodigital syndrome type 4
652TCTN3
653Orofaciodigital syndrome type 5
654DDX59
655Orofaciodigital syndrome type 6
656CPLANE1
657Osteoglophonic dysplasia
658FGFR1
659Otofaciocervical syndrome
660EYA1
661Otospondylomegaepiphyseal dysplasia
662COL11A2
663Otospondylomegaepiphyseal dysplasia
664COL2A1
665Pallister-Hall syndrome
666GLI3
667Papillorenal syndrome
668PAX2
669Parietal foramina type 1
670MSX2
671Pelger-Huet anomaly
672LBR
673Pelvic organ prolapse, LAMC1 related
674LAMC1
675Perlman Syndrome
676DIS3L2
677Pfeiffer syndrome
678FGFR1
679Pfeiffer syndrome
680FGFR2
681Phelan-McDermid syndrome
682chr. 22q13.3
683Pitt-Hopkins syndrome
684NRXN1
685Pitt-Hopkins syndrome
686TCF4
687Pituitary hormone deficiency type 1
688POU1F1
689Pituitary hormone deficiency type 2
690PROP1
691Platyspondylic skeletal dysplasia, Torrance type
692COL2A1
693Polyhydramnios, megalencephaly, and symptomatic epilepsy
694STRADA
695Polymicrogyria asymmetric
696TUBB2B
697Polymicrogyria bilateral frontoparietal
698ADGRG1
699Polymicrogyria bilateral occipital
700NR2E1
701Polymicrogyria with optic nerve hypoplasia
702TUBA8
703Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
704PI4KA
705Popliteal pterygium syndrome type 1
706IRF6
707Popliteal pterygium syndrome, lethal type
708RIPK4
709Porencephaly, familial
710COL4A1
711Poretti-Boltshauser syndrome
712LAMA1
713Postaxial acrofacial dysostosis
714DHODH
715Prolidase deficiency
716PEPD
717Prune belly syndrome
718CHRM3
719Rapp-Hodgkin syndrome
720TP63
721Retinal dystrophy, juvenile cataracts, and short stature syndrome
722RDH11
723Rett syndrome
724MECP2
725Rett syndrome, congenital variant
726FOXG1
727Rhizomelic chondrodysplasia punctata type 2
728GNPAT
729Rhizomelic chondrodysplasia punctata type 3
730AGPS
731Rhizomelic chondrodysplasia punctata type 5
732PEX5
733Ritscher-Schinzel syndrome type 1
734WASHC5
735RNA processing related disorders
736HNRNPU
737Roberts syndrome
738ESCO2
739Robinow syndrome, autosomal dominant type 1
740WNT5A
741Robinow syndrome, autosomal dominant type 2
742DVL1
743Robinow syndrome, autosomal recessive
744ROR2
745Robinow-Sorauf syndrome
746TWIST1
747Rubinstein-Taybi syndrome
748CREBBP
749Rubinstein-Taybi syndrome
750EP300
751Saethre-Chotzen syndrome
752FGFR2
753Saethre-Chotzen syndrome
754TWIST1
755SC Phocomelia syndrome
756ESCO2
757Scaphocephaly, maxillary retrusion, and mental retardation
758FGFR2
759Schaaf-Yang syndrome
760MAGEL2
761Schinzel-Giedion midface retraction syndrome
762SETBP1
763Schizencephaly
764EMX2
765Schneckenbecken dysplasia
766SLC35D1
767Sclerosteosis type 1
768SOST
769Seckel syndrome
770ATRIP
771Seckel syndrome type 1
772ATR
773Seckel syndrome type 2
774RBBP8
775Seckel syndrome type 4
776CENPJ
777Seckel syndrome type 5
778CEP152
779Seckel syndrome type 6
780CEP63
781Seckel syndrome type 7
782NIN
783SED congenita
784COL2A1
785Seizures, scoliosis, and macrocephaly syndrome
786EXT2
787Septooptic dysplasia
788HESX1
789SERKAL syndrome
790WNT4
791Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
792NHEJ1
793Short stature syndrome
794SHOX
795Short stature, microcephaly, and endocrine dysfunction
796XRCC4
797Short stature, optic nerve atrophy, and Pelger-Huet anomaly
798NBAS
799SHORT syndrome
800PIK3R1
801Short-rib thoracic dysplasia type 10 with or without polydactyly
802IFT172
803Short-rib thoracic dysplasia type 11 with or without polydactyly
804WDR34
805Short-rib thoracic dysplasia type 2 with or without polydactyly
806IFT80
807Short-rib thoracic dysplasia type 3 with or without polydactyly
808DYNC2H1
809Short-rib thoracic dysplasia type 4 with or without polydactyly
810TTC21B
811Short-rib thoracic dysplasia type 5 with or without polydactyly
812WDR19
813Short-rib thoracic dysplasia type 6 with or without polydactyly
814NEK1
815Short-rib thoracic dysplasia type 7 with or without polydactyly
816WDR35
817Short-rib thoracic dysplasia type 8 with or without polydactyly
818WDR60
819Shprintzen-Goldberg syndrome
820SKI
821Silver-Russell syndrome
822chr. 11p15
823Silver-Russell syndrome
824maternal UPD chr. 7
825Skeletal abnormalities, CBFB related
826CBFB
827Skeletal defects, genital hypoplasia, and mental retardation
828ZBTB16
829SMED Strudwick type
830COL2A1
831Smith-Lemli-Opitz syndrome
832DHCR7
833Sotos syndrome type 1
834NSD1
835Sotos-like syndrome
836NFIX
837Speech-language disorder type 1
838FOXP2
839Spina bifida folate sensitive
840MTRR
841Split-hand/foot malformation type 1 with sensorineural hearing loss
842DLX5
843Split-hand/foot malformation type 6
844WNT10B
845Spondylo-megaepiphyseal-metaphyseal dysplasia
846NKX3-2
847Spondylocostal dysostosis type 5
848TBX6
849Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
850B3GALT6
851Spondyloperipheral dysplasia
852COL2A1
853Stiff skin syndrome
854FBN1
855Stuve-Wiedemann syndrome
856LIFR
857Syndactyly type 1
858HOXD13
859Syndactyly type 5
860HOXD13
861Syndactyly, mesoaxial synostotic, with phalangeal reduction
862BHLHA9
863TANC2 related brain disorders
864TANC2
865Tarp syndrome
866RBM10
867Temple syndrome
868maternal UPD chr. 14
869Temple-Baraitser syndrome
870KCNH1
871Temtamy preaxial brachydactyly syndrome
872CHSY1
873Temtamy syndrome
874C12orf57
875Tetraamelia, autosomal recessive
876WNT3
877Three M syndrome type 1
878CUL7
879Three M syndrome type 2
880OBSL1
881Three M syndrome type 3
882CCDC8
883Toe syndactyly, telecanthus, and anogenital and renal malformations
884FAM58A
885Tooth agenesis, selective type 1
886MSX1
887Tooth agenesis, selective type 3
888PAX9
889Townes-Brocks syndrome
890SALL1
891Transposition of great arteries, dextro-looped 3
892GDF1
893Transposition of the great arteries, dextro-looped 1
894MED13L
895Treacher Collins syndrome type 1
896TCOF1
897Treacher Collins syndrome type 2
898POLR1D
899Treacher Collins syndrome type 3
900POLR1C
901Trigonocephaly type 1
902FGFR1
903Ulna and fibula, absence of, with severe limb deficiency
904WNT7A
905Ulnar-Mammary syndrome
906TBX3
907Urofacial syndrome
908LRIG2
909Urofacial syndrome type 1
910HPSE2
911Van den Ende-Gupta syndrome
912SCARF2
913van der Woude syndrome type 1
914IRF6
915van der Woude syndrome type 2
916GRHL3
917Van Maldergem syndrome type 2
918FAT4
919Vater association
920HOXD13
921Vici syndrome
922EPG5
923Visceral myopathy
924ACTG2
925Warburg micro syndrome type 1
926RAB3GAP1
927Warburg micro syndrome type 2
928RAB3GAP2
929Warsaw breakage syndrome
930DDX11
931Weaver syndrome
932EZH2
933Webb-Dattani syndrome
934ARNT2
935Weill-Marchesani syndrome type 3
936LTBP2
937Weill-Marchesani syndrome, dominant type 2
938FBN1
939Werner syndrome
940WRN
941Wiedemann-Steiner syndrome
942KMT2A
943Williams-Beuren syndrome
944chr. 7q11.23
945Witkop syndrome
946MSX1
947XFE progeroid syndrome
948ERCC4
949ZIC5 related brain disorders
950ZIC5

Osteology-Dermatology-Immunology
Modal Title

Osteology-Dermatology-Immunology

No.Description
13MC syndrome type 1
2MASP1
33MC syndrome type 2
4COLEC11
5Achondrogenesis type 1A
6TRIP11
7Achondrogenesis type 1B
8SLC26A2
9Achondrogenesis type 2
10COL2A1
11Achondroplasia
12FGFR3
13Acne inversa familial type 3
14PSEN1
15Acrodermatitis enteropathica
16SLC39A4
17Acrodysostosis 2
18PDE4D
19Acrofacial dysostosis 1, Nager type
20SF3B4
21Acrokeratosis verruciformis
22ATP2A2
23Adams-Oliver syndrome type 1
24ARHGAP31
25Adams-Oliver syndrome type 2
26DOCK6
27Adams-Oliver syndrome type 3
28RBPJ
29Adams-Oliver syndrome type 4
30EOGT
31Adermatoglyphia
32SMARCAD1
33Albinism, oculocutaneous nonsyndromic
34SLC24A5
35Albinism, oculocutaneous type 1A
36TYR
37Albinism, oculocutaneous type 1B
38TYR
39Albinism, oculocutaneous type 2
40OCA2
41Albinism, oculocutaneous type 3
42TYRP1
43Albinism, oculocutaneous type 4
44SLC45A2
45Albinism, oculocutaneous type 5
46LRMDA
47Alopecia universalis
48HR
49Amelogenesis imperfecta type 1A
50LAMB3
51Amelogenesis imperfecta type 1B
52ENAM
53Amelogenesis imperfecta type 1C
54ENAM
55Amelogenesis imperfecta type 1E
56AMELX
57Amelogenesis imperfecta type 1F
58AMBN
59Amelogenesis imperfecta type 1G
60FAM20A
61Amelogenesis imperfecta type 1H
62ITGB6
63Amelogenesis imperfecta type 2A1
64KLK4
65Amelogenesis imperfecta type 2A2
66MMP20
67Amelogenesis imperfecta type 2A3
68WDR72
69Amelogenesis imperfecta type 2A4
70C4orf26
71Amelogenesis imperfecta type 2A5
72SLC24A4
73Amelogenesis imperfecta type 3
74FAM83H
75Amelogenesis imperfecta type 4
76DLX3
77Amelotin deficiency
78AMTN
79Amyloidosis, primary localized cutaneous, type 1
80OSMR
81Amyloidosis, primary localized cutaneous, type 2
82IL31RA
83Arthrogryposis, distal, type 1A
84TPM2
85Arthrogryposis, distal, type 1B
86MYBPC1
87Arthrogryposis, distal, type 2A
88MYH3
89Arthrogryposis, distal, type 2B
90MYH3
91Arthrogryposis, distal, type 2B
92TNNI2
93Arthrogryposis, distal, type 2B
94TNNT3
95Arthrogryposis, distal, type 3
96PIEZO2
97Arthrogryposis, distal, type 5
98PIEZO2
99Arthrogryposis, distal, type 5D
100ECEL1
101Arthrogryposis, distal, type 7
102MYH8
103Arthrogryposis, mental retardation, and seizures
104SLC35A3
105Arthrogryposis, renal dysfunction, and cholestasis type 1
106VPS33B
107Arthrogryposis, renal dysfunction, and cholestasis type 2
108VIPAS39
109Arthropathy, progressive pseudorheumatoid, of childhood
110WISP3
111Atelosteogenesis type 1
112FLNB
113Atelosteogenesis type 3
114FLNB
115Atrichia with papular lesions
116HR
117Atypical Mycobacterial infection
118IFNGR2
119Atypical Mycobacterial infection
120IKBKG
121Atypical Mycobacterial infection
122IL12RB1
123Atypical Mycobacterial infection
124STAT1
125Atypical Mycobacterial infection, IL12RB2 related
126IL12RB2
127Autoimmune lymphoproliferative syndrome type 1A
128FAS
129Autoimmune lymphoproliferative syndrome type 1B
130FASLG
131Autoimmune lymphoproliferative syndrome type 2A
132CASP10
133Autoimmune lymphoproliferative syndrome type 2B
134CASP8
135Autoimmune lymphoproliferative syndrome type 3
136PRKCD
137Autoimmune polyendocrinopathy syndrome type 1
138AIRE
139Autoinflammation, lipodystroph and dermatosis syndrome
140PSMB8
141Avascular necrosis of the femoral head, primary
142COL2A1
143B-cell expansion with NFKB and T-cell anergy
144CARD11
145Bare lymphocyte syndrome, type 2
146RFXANK
147Bare lymphocyte syndrome, type 2, complementation group A
148CIITA
149Beare-Stevenson cutis gyrata syndrome
150FGFR2
151Bent bone dysplasia syndrome
152FGFR2
153Bone mineral density QTL18, osteoporosis
154PLS3
155Buschke-Ollendorff syndrome
156LEMD3
157C1q deficiency
158C1QA
159C2 deficiency
160C2
161C3 deficiency
162C3
163C5 deficiency
164C5
165C7 deficiency
166C7
167Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
168IARS2
169Chediak-Higashi syndrome
170LYST
171Choanal atresia and lymphedema
172PTPN14
173Chondrocalcinosis type 2
174ANKH
175Chondrodysplasia punctata, X-linked dominant
176EBP
177Chondrodysplasia punctata, X-linked recessive
178ARSE
179Chondrosarcoma, familial
180EXT1
181Cleidocranial dysplasia
182RUNX2
183Cold autoinflammatory syndrome type 2
184NLRP12
185Cold autoinflammatory syndrome type 4, familial
186NLRC4
187Cole disease
188ENPP1
189Cole-Carpenter syndrome type 1
190P4HB
191Combined cellular and humoral immune defects with granulomas
192RAG2
193Combined immunodeficiency, B cell-negative, T cell-negative, NK cell positive
194RAG2
195Combined immunodeficiency, X-linked, moderate
196IL2RG
197Contractural arachnodactyly, congenital
198FBN2
199Cornelia de Lange syndrome type 1
200NIPBL
201Cornelia de Lange syndrome type 2
202SMC1A
203Cornelia de Lange syndrome type 3
204SMC3
205Cornelia de Lange syndrome type 4
206RAD21
207Cornelia de Lange syndrome type 5
208HDAC8
209Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
210TMCO1
211Craniofacial-skeletal-dermatologic dysplasia
212FGFR2
213Crouzon syndrome with acanthosis nigricans
214FGFR3
215Cutaneous telangiectasia and cancer syndrome, familial
216ATR
217Cutis laxa type 1A, autosomal recessive
218FBLN5
219Cutis laxa type 1B, autosomal recessive
220EFEMP2
221Cutis laxa type 2, autosomal dominant
222FBLN5
223Cutis laxa type 2A, autosomal recessive
224ATP6V0A2
225Cutis laxa type 2B, autosomal recessive
226PYCR1
227Cutis laxa type 3A, autosomal recessive
228ALDH18A1
229Cutis laxa type 3B, autosomal recessive
230PYCR1
231Cutis laxa, autosomal dominant
232ELN
233Czech dysplasia
234COL2A1
235Dentin dysplasia, type 2
236DSPP
237Dentinogenesis imperfecta, Shields type 2
238DSPP
239Dentinogenesis imperfecta, Shields type 3
240DSPP
241Dermatitis, atopic type 2
242FLG
243Dermatopathia pigmentosa reticularis
244KRT14
245Diaphyseal medullary stenosis with malignant fibrous histiocytoma
246MTAP
247Diarrhea type 2 with microvillus atrophy
248MYO5B
249Diarrhea type 6
250GUCY2C
251Dyschromatosis universalis hereditaria type 3
252ABCB6
253Dyskeratosis congenita, autosomal recessive type 1
254NOP10
255Dyskeratosis congenita, autosomal recessive type 2
256NHP2
257Dyskeratosis congenita, autosomal recessive type 4/ autosomal dominant type 2
258TERT
259Dyskeratosis congenita, autosomal recessive type 5
260RTEL1
261Dyskeratosis congenita, autosomal recessive type 6
262PARN
263Dyskeratosis congenita, autosomal recessive type 7
264ACD
265Dyskeratosis congenita, X-linked
266DKC1
267Dyssegmental dysplasia, Silverman-Handmaker type
268HSPG2
269Ectodermal dysplasia type 4, hair/nail type
270KRT85
271Ectodermal dysplasia, ectrodactyly, and macular dystrophy
272CDH3
273Ectodermal dysplasia, hidrotic
274GJB6
275Ectodermal dysplasia, hypohidrotic, autosomal recessive
276EDAR
277Ectodermal dysplasia, hypohidrotic, autosomal recessive
278EDARADD
279Ectodermal dysplasia, hypohidrotic, with immune deficiency
280IKBKG
281Ectodermal dysplasia, hypohidrotic, X-linked
282EDA
283Ectodermal dysplasia/skin fragility syndrome
284PKP1
285Ehlers-Danlos syndrome type 1/2
286COL5A1
287Ehlers-Danlos syndrome type 1/2
288COL5A2
289Ehlers-Danlos syndrome type 3
290COL3A1
291Ehlers-Danlos syndrome type 3
292TNXB
293Ehlers-Danlos syndrome type 4
294COL3A1
295Ehlers-Danlos syndrome type 4
296COL5A1
297Ehlers-Danlos syndrome type 6
298PLOD1
299Ehlers-Danlos syndrome type 7A
300COL1A1
301Ehlers-Danlos syndrome type 7B
302COL1A2
303Ehlers-Danlos syndrome type 7C
304ADAMTS2
305Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
306FKBP14
307Ehlers-Danlos syndrome, musculocontractural type 1
308CHST14
309Ehlers-Danlos syndrome, musculocontractural type 2
310DSE
311Ehlers-Danlos syndrome, progeroid type 1
312B4GALT7
313Ehlers-Danlos syndrome, progeroid type, type 2
314B3GALT6
315Emberger syndrome
316GATA2
317Epidermolysis bullosa dystrophica
318COL7A1
319Epidermolysis bullosa dystrophica, autosomal recessive, modifier of
320MMP1
321Epidermolysis bullosa junctionalis with pyloric atresia
322ITGA6
323Epidermolysis bullosa junctionalis with pyloric atresia
324ITGB4
325Epidermolysis bullosa simplex
326KRT5
327Epidermolysis bullosa simplex with pyloric atresia
328PLEC
329Epidermolysis bullosa simplex, autosomal recessive type 1
330KRT14
331Epidermolysis bullosa simplex, autosomal recessive type 2
332DST
333Epidermolysis bullosa simplex, Dowling-Meara type
334KRT14
335Epidermolysis bullosa simplex, Koebner type
336KRT14
337Epidermolysis bullosa simplex, Ogna type
338PLEC
339Epidermolysis bullosa simplex, Weber-Cockayne type
340KRT14
341Epidermolysis bullosa, generalized atrophic benign
342LAMA3
343Epidermolysis bullosa, junctional
344COL17A1
345Epidermolysis bullosa, junctional
346LAMC2
347Epidermolysis bullosa, junctional, Herlitz type
348LAMA3
349Epidermolysis bullosa, junctional, Herlitz type
350LAMB3
351Epidermolysis bullosa, junctional, non-Herlitz type
352LAMB3
353Epidermolysis bullosa, lethal acantholytic
354DSP
355Epidermolysis bullosa, nonspecific, autosomal recessive
356EXPH5
357Epidermolytic hyperkeratosis
358KRT1
359Epidermolytic hyperkeratosis
360KRT10
361Epidermolytic palmoplantar keratoderma
362KRT9
363Epiphyseal dysplasia, multiple, type 1
364COMP
365Epiphyseal dysplasia, multiple, type 3
366COL9A3
367Epiphyseal dysplasia, multiple, type 5
368MATN3
369Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis and hyper IgE
370DSG1
371Erythrokeratodermia variabilis et progressive
372GJB3
373Erythrokeratodermia variabilis et progressive
374GJB4
375Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
376COX4I2
377Exostoses, multiple, type 1
378EXT1
379Exostoses, multiple, type 2
380EXT2
381Fanconi anemia, complementation group Q
382ERCC4
383Feingold syndrome type 2
384MIR17HG
385Fibrochondrogenesis 2
386COL11A2
387Fibrochondrogenesis type 1
388COL11A1
389Fibrodysplasia ossificans progressiva
390ACVR1
391Fibrosis of extraocular muscles, congenital type 2
392PHOX2A
393Floating-Harbor syndrome
394SRCAP
395Focal dermal hypoplasia
396PORCN
397Frank-ter Haar syndrome
398SH3PXD2B
399Geleophysic dysplasia type 1
400ADAMTSL2
401Geroderma osteodysplasticum
402GORAB
403Ghosal hematodiaphyseal syndrome
404TBXAS1
405Gnathodiaphyseal dysplasia
406ANO5
407Gracile bone dysplasia
408FAM111A
409Granulomatous disease, chronic, autosomal recessive, cytochrome b- positive, type 1
410NCF1
411Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
412CYBA
413Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
414NCF2
415Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
416NCF4
417Granulomatous disease, chronic, X-linked
418CYBB
419Greenberg skeletal dysplasia
420LBR
421Griscelli syndrome type 1
422MYO5A
423Griscelli syndrome type 3
424MLPH
425Haim-Munk syndrome
426CTSC
427Heimler syndrome type 1
428PEX1
429Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy
430CD59
431Hemophagocytic lymphohistiocytosis type 2
432PRF1
433Hemophagocytic lymphohistiocytosis type 3
434UNC13D
435Hemophagocytic lymphohistiocytosis type 4
436STX11
437Hemophagocytic lymphohistiocytosis type 5
438STXBP2
439Hennekam lymphangiectasia-lymphedema syndrome type 1
440CCBE1
441Hepatic venoocclusive disease with immunodeficiency
442SP110
443Herpes simplex encephalitis type 2, susceptibility to
444TLR3
445Histiocytosis-lymphadenopathy plus syndrome
446SLC29A3
447Hyaline fibromatosis syndrome
448ANTXR2
449Hyper-IgE recurrent infection syndrome
450STAT3
451Hyper-IgE recurrent infection syndrome, autosomal recessive
452DOCK8
453Hypertrophic osteoarthropathy type 1
454HPGD
455Hypertrophic osteoarthropathy type 2
456SLCO2A1
457Hypochondroplasia
458FGFR3
459Hypophosphatemic rickets with hypercalciuria
460SLC34A3
461Hypophosphatemic rickets, autosomal dominant
462FGF23
463Hypophosphatemic rickets, autosomal recessive type 1
464DMP1
465Hypophosphatemic rickets, autosomal recessive type 2
466ENPP1
467Hypophosphatemic rickets, X-linked
468PHEX
469Hypotrichosis and recurrent skin vesicles
470DSC3
471Hypotrichosis type 1
472APCDD1
473Hypotrichosis type 11
474SNRPE
475Hypotrichosis type 12
476RPL21
477Hypotrichosis type 13
478KRT71
479Hypotrichosis type 2
480CDSN
481Hypotrichosis type 3
482KRT74
483Hypotrichosis type 4
484HR
485Hypotrichosis type 6
486DSG4
487Hypotrichosis type 7
488LIPH
489Hypotrichosis type 8
490LPAR6
491Hypotrichosis-lymphedema-telangiectasia syndrome
492SOX18
493Ichthyosiform erythroderma, congenital, nonbullous type 1
494ALOXE3
495Ichthyosiform erythroderma, congenital, nonbullous type 1
496NIPAL4
497Ichthyosis congenital, autosomal recessive, PNPLA1 related
498PNPLA1
499Ichthyosis congenital, Harlequin fetus type
500ABCA12
501Ichthyosis follicularis, atricia, and photophobia syndrome
502MBTPS2
503Ichthyosis prematurity syndrome
504SLC27A4
505Ichthyosis vulgaris
506FLG
507Ichthyosis, bullous type
508KRT2
509Ichthyosis, congenital, autosomal recessive type 1
510TGM1
511Ichthyosis, congenital, autosomal recessive, type 11
512ST14
513Ichthyosis, congenital, autosomal recessive, type 2
514ALOX12B
515Ichthyosis, congenital, autosomal recessive, type 9
516CERS3
517Ichthyosis, lamellar type 2
518ABCA12
519Ichthyosis, lamellar type 3
520CYP4F22
521Ichthyosis, lamellar type 4
522LIPN
523Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
524CLDN1
525Ichthyosis, spastic quadriplegia, and mental retardation
526ELOVL4
527Ichthyosis, X-linked
528STS
529Immunodeficiency common variable type 1
530ICOS
531Immunodeficiency common variable type 10
532NFKB2
533Immunodeficiency common variable type 2
534TNFRSF13B
535Immunodeficiency common variable type 3
536CD19
537Immunodeficiency common variable type 4
538TNFRSF13C
539Immunodeficiency common variable type 6
540CD81
541Immunodeficiency common variable type 8
542LRBA
543Immunodeficiency due to defect in MAPBP-interacting protein
544LAMTOR2
545Immunodeficiency due to purine nucleoside phosphorylase deficiency
546PNP
547Immunodeficiency type 10
548STIM1
549Immunodeficiency type 11
550CARD11
551Immunodeficiency type 12
552MALT1
553Immunodeficiency type 14
554PIK3CD
555Immunodeficiency type 15
556IKBKB
557Immunodeficiency type 18
558CD3E
559Immunodeficiency type 19
560CD3D
561Immunodeficiency type 2, with hyper-IgM
562AICDA
563Immunodeficiency type 21
564GATA2
565Immunodeficiency type 22
566LCK
567Immunodeficiency type 24
568CTPS1
569Immunodeficiency type 25
570CD247
571Immunodeficiency type 3, with hyper-IgM
572CD40
573Immunodeficiency type 32A, mycobacteriosis, autosomal dominant
574IRF8
575Immunodeficiency type 32B, monocyte and dendritic cell deficiency, autosomal recessive
576IRF8
577Immunodeficiency type 34
578CYBB
579Immunodeficiency type 35
580TYK2
581Immunodeficiency type 36
582PIK3R1
583Immunodeficiency type 38
584ISG15
585Immunodeficiency type 42
586RORC
587Immunodeficiency type 5, with hyper IgM
588UNG
589Immunodeficiency type 8
590CORO1A
591Immunodeficiency, isolated
592IKBKG
593Immunodeficiency, primary, autosomal recessive, IL21R-related
594IL21R
595Immunodeficiency, X-linked with hyper-IgM
596CD40LG
597Immunodeficiency-centromeric instability-facial anomalies syndrome type 1
598DNMT3B
599Immunodeficiency-centromeric instability-facial anomalies syndrome type 2
600ZBTB24
601Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked
602FOXP3
603Immunological disorder, PECAM1 related
604PECAM1
605Immunological disorder, PICALM related
606PICALM
607Incontinentia pigmenti type 2
608IKBKG
609Inflammatory bowel disease type 13
610ABCB1
611Inflammatory skin and bowel disease, neonatal, type 1
612ADAM17
613Interleukin 12A deficiency
614IL12A
615Interleukin 2 receptor deficiency
616IL2RA
617Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
618ITGA3
619Invasive pneumococcal disease, recurrent isolated type 1
620IRAK4
621Invasive pneumococcal disease, recurrent isolated type 2
622IKBKG
623IRAK4 deficiency
624IRAK4
625Keratoderma, palmoplantar, punctate type 1A
626AAGAB
627Keratosis follicularis spinulosa declavans, X-linked
628MBTPS2
629Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
630POMP
631Keratosis palmoplantaris striata type 1
632DSG1
633Keratosis palmoplantaris striata type 2
634DSP
635Kindler syndrome
636FBLIM1
637Kindler syndrome
638FERMT1
639Laryngoonychocutaneous syndrome
640LAMA3
641Legg-Calve-Perthes disease
642COL2A1
643Legius syndrome
644SPRED1
645Leukocyte adhesion deficiency type 3
646FERMT3
647LIG4 syndrome
648LIG4
649Loeys-Dietz syndrome type 1A
650TGFBR1
651Loeys-Dietz syndrome type 1B
652TGFBR2
653Loeys-Dietz syndrome type 1C
654SMAD3
655Loeys-Dietz syndrome type 2A
656TGFBR1
657Loeys-Dietz syndrome type 2B
658TGFBR2
659Lymphedema, hereditary, type 1A
660FLT4
661Lymphedema, hereditary, type IC
662GJC2
663Lymphoproliferative syndrome type 2
664CD27
665Majeed syndrome
666LPIN2
667Major histocompatibility comples 1 deficiency
668MR1
669Mal de Meleda
670SLURP1
671Malaria, cerebral, susceptibility to
672ICAM1
673Malaria, resistance to
674FCGR2B
675Mandibuloacral dysplasia with type B lipodystrophy
676ZMPSTE24
677Marfan syndrome, TGFBR1 related
678TGFBR1
679Marfan syndrome, TGFBR2 related
680TGFBR2
681McKusick-Kaufman syndrome
682MKKS
683Meconium ileus
684GUCY2C
685MEDNIK syndrome
686AP1S1
687MERRF syndrome, MT-TK related
688MT-TK
689MERRF syndrome, MT-TP related
690MT-TP
691Metaphyseal chondrodysplasia, Schmid type
692COL10A1
693Metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate
694IDH1
695Muckle-wells syndrome
696NLRP3
697Multicentric carpotarsal osteolysis syndrome
698MAFB
699Multicentric osteolysis, nodulosis, and arthropathy
700MMP2
701Multiple pterygium syndrome lethal type
702CHRNA1
703Multiple pterygium syndrome lethal type
704CHRND
705Mycobacterial infection, atypical, familial disseminated
706IFNGR1
707Naegeli-Franceschetti-Jadassohn syndrome
708KRT14
709Nail-Patella syndrome
710LMX1B
711Nephrolithiasis/osteoporosis, hypophosphatemic, type 2
712SLC9A3R1
713Netherton syndrome
714SPINK5
715Neurofibromatosis type 1
716NF1
717Neurofibromatosis type 1 -like syndrome
718SPRED1
719Neurofibromatosis type 2
720NF2
721Neutropenia, nonimmune chronic idiopathic, of adults
722GFI1
723Neutropenia, severe congenital type 2, autosomal dominant
724GFI1
725Neutropenia, severe congenital type 4, autosomal recessive
726G6PC3
727Neutropenia, severe congenital type 5, autosomal recessive
728VPS45
729Neutropenia, severe congenital type 6, autosomal recessive
730JAGN1
731Neutrophil immunodeficiency syndrome
732RAC2
733Odontoonychodermal dysplasia
734WNT10A
735Olmsted syndrome
736TRPV3
737Omenn syndrome
738DCLRE1C
739Omenn syndrome
740RAG2
741Omodysplasia type 1
742GPC6
743Opsismodysplasia
744INPPL1
745Osseous heteroplasia, progressive
746GNAS
747Osteoarthritis with mild chondrodysplasia
748COL2A1
749Osteogenesis and dental anomalies, CSF1 related
750CSF1
751Osteogenesis disorders, CREB3L1 related
752CREB3L1
753Osteogenesis imperfecta
754COL1A1
755Osteogenesis imperfecta
756COL1A2
757Osteogenesis imperfecta type 10
758SERPINH1
759Osteogenesis imperfecta type 11
760FKBP10
761Osteogenesis imperfecta type 12
762SP7
763Osteogenesis imperfecta type 13
764BMP1
765Osteogenesis imperfecta type 14
766TMEM38B
767Osteogenesis imperfecta type 15
768WNT1
769Osteogenesis imperfecta type 5
770IFITM5
771Osteogenesis imperfecta type 6
772SERPINF1
773Osteogenesis imperfecta type 7
774CRTAP
775Osteogenesis imperfecta type 8
776P3H1
777Osteogenesis imperfecta type 9
778PPIB
779Osteogenesis imperfecta with congenital joint contractures
780PLOD2
781Osteolysis, familial expansile
782TNFRSF11A
783Osteomyelitis, sterile multifocal, with periostitis and pustulosis
784IL1RN
785Osteopathia striata with cranial sclerosis
786AMER1
787Osteopetrosis of infancy, malignant
788SNX10
789Osteopetrosis, autosomal dominant type 1
790CLCN7
791Osteopetrosis, autosomal recessive type 1
792TCIRG1
793Osteopetrosis, autosomal recessive type 2
794TNFSF11
795Osteopetrosis, autosomal recessive type 3
796CA2
797Osteopetrosis, autosomal recessive type 4
798CLCN7
799Osteopetrosis, autosomal recessive type 5
800OSTM1
801Osteopetrosis, autosomal recessive type 6
802PLEKHM1
803Osteopetrosis, autosomal recessive type 7
804TNFRSF11A
805Osteoporosis pseudoglioma syndrome
806LRP5
807Pachyonychia congenita type 1
808KRT16
809Pachyonychia congenita type 2
810KRT17
811Pachyonychia congenita type 3
812KRT6A
813Pachyonychia congenita type 4
814KRT6B
815Paget disease of bone
816SQSTM1
817Paget disease, juvenile
818TNFRSF11B
819Palmoplantar keratoderma, nonepidermolytic, focal
820KRT16
821Papillon-Lefevre syndrome
822CTSC
823Peeling skin syndrome type 1
824CDSN
825Peeling skin syndrome type 2
826TGM5
827Peeling skin syndrome type 3
828CHST8
829Peeling skin syndrome type 4
830CSTA
831Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
832CAST
833Piebaldism
834KIT
835Piebaldism
836SNAI2
837Pityriasis rubra pilaris
838CARD14
839Poikiloderma with neutropenia
840USB1
841Porokeratosis type 3, disseminated superficial actinic
842MVK
843Porphyria cutanea tarda
844UROD
845Protoporphyria, erythropoietic type 1
846FECH
847Pseudoachondroplasia
848COMP
849Pseudoxanthoma elasticum
850ABCC6
851Pseudoxanthoma elasticum, forme fruste
852ABCC6
853Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
854GGCX
855Psoriasis susceptibility type 11
856IL12B
857Psoriasis type 2
858CARD14
859Psoriasis, generalized pustular
860IL36RN
861Pterygium syndrome
862CHRNG
863Pulmonary fibrosis and/or bone marrow failure, telomere-related, type 1
864TERT
865Pulmonary fibrosis and/or bone marrow failure, telomere-related, type 4
866PARN
867Pycnodysostosis
868CTSK
869Pyogenic bacterial infections, recurrent, due to MYD88 deficiency
870MYD88
871Pyogenic sterile arthritis, pyoderma gangrenosum, and acne
872PSTPIP1
873Radioulnar synostosis, FGFRL1 related
874FGFRL1
875Raine syndrome
876FAM20C
877Restrictive dermopathy, lethal
878LMNA
879Restrictive dermopathy, lethal
880ZMPSTE24
881Reticular dysgenesis
882AK2
883Reticulate acropigmentation of Kitamura
884ADAM10
885Rheumatoid arthritis, susceptibility to
886AFF3
887Rheumatoid arthritis, TNFAIP3 related
888TNFAIP3
889Rickets, vitamin D 25-hydroxylation-deficient, type 1B
890CYP2R1
891Rickets, vitamin D dependent, type 1
892CYP27B1
893Rickets, vitamin D-resistant, type 2A
894VDR
895Sarcoidosis, early-onset
896NOD2
897Selective T-cell defect
898ZAP70
899Severe combined immunodeficiency due to ADA deficiency
900ADA
901Severe combined immunodeficiency due to IL2 deficiency
902IL2
903Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
904NHEJ1
905Severe combined immunodeficiency, Athabascan type
906DCLRE1C
907Severe combined immunodeficiency, B cell-negative
908RAG1
909Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive
910PTPRC
911Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type
912IL7R
913Skin fragility-woolly hair syndrome
914DSP
915Skin hair eye pigmentation type 6
916SLC24A4
917Smith-McCort dysplasia
918DYM
919Spondylocarpotarsal synostosis syndrome
920FLNB
921Spondylocheirodysplasia, Ehlers-Danlos syndrome-like
922SLC39A13
923Spondylocostal dysostosis, autosomal recessive type 1
924DLL3
925Spondylocostal dysostosis, autosomal recessive type 2
926MESP2
927Spondylocostal dysostosis, autosomal recessive type 3
928LFNG
929Spondyloenchondrodysplasia with immune dysregulation
930ACP5
931Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
932B3GALT6
933Spondyloepimetaphyseal dysplasia, MATN3 related
934MATN3
935Spondyloepiphyseal dysplasia with congenital joint dislocations
936CHST3
937Spondylometaepiphyseal dysplasia, short limb-hand type
938DDR2
939Steatocystoma multiplex
940KRT17
941Stiff skin syndrome
942FBN1
943Systemic lupus erythematosus
944DNASE1
945Systemic lupus erythematosus type 16
946DNASE1L3
947Systemic lupus erythematosus, susceptibility to
948ITGAM
949T-cell immunodeficiency, congenital alopecia, and nail dystrophy
950FOXN1
951Telangiectasia hereditary hemorrhagic type 5
952GDF2
953Telangiectasia, hereditary hemorrhagic, of Rendu, Osler and Weber type 1
954ENG
955Telangiectasia, hereditary hemorrhagic, type 2
956ACVRL1
957Terminal osseous dysplasis
958FLNA
959Thrombospondin Type 1 domain-containing protein 1
960THSD1
961Trichodontoosseous syndrome
962DLX3
963Trichohepatoenteric syndrome type 1
964TTC37
965Trichohepatoenteric syndrome type 2
966SKIV2L
967Trichorhinophalangeal syndrome type 1
968TRPS1
969Trichothiodystrophy
970ERCC2
971Trichothiodystrophy
972ERCC3
973Trichothiodystrophy
974GTF2H5
975Trichothiodystrophy, nonphotosensitive type 1
976MPLKIP
977Tuftelin deficiency
978TUFT1
979Tylosis with esophageal cancer
980RHBDF2
981UV-sensitive syndrome type 1
982ERCC6
983UV-sensitive syndrome type 3
984UVSSA
985Van Buchem disease
986SOST
987Vasculopathy, infantile-onset, TMEM173/STING related
988TMEM173
989Vitiligo-associated multiple autoimmune disease
990NLRP1
991Vohwinkel syndrome with ichthyosis
992LORICRIN
993Waardenburg syndrome type 1
994PAX3
995Waardenburg syndrome type 2E
996SOX10
997Waardenburg syndrome type 4C
998SOX10
999WHIM syndrome
1000CXCR4
1001Winchester Syndrome
1002MMP14
1003Wolcott-Rallison syndrome
1004EIF2AK3
1005Wrinkly skin syndrome
1006ATP6V0A2
1007Xeroderma pigmentosum, group A
1008XPA
1009Xeroderma pigmentosum, group C
1010XPC
1011Xeroderma pigmentosum, group D
1012ERCC2
1013Xeroderma pigmentosum, group E, DDB-negative subtype
1014DDB2
1015Xeroderma pigmentosum, group F
1016ERCC4
1017Xeroderma pigmentosum, group G
1018ERCC5
1019Xeroderma pigmentosum, variant type
1020POLH
1021XFE progeroid syndrome
1022ERCC4

Hematology nephrology, endocrinology
Modal Title

Hematology, Nephrology, Endocrinology

No.Description
1Accelerated tumor formation, susceptibility to
2MDM2
3Adenosine triphosphate, elevated, of erythrocytes
4PKLR
5Afibrinogenemia, congenital
6FGA
7Afibrinogenemia, congenital
8FGB
9Afibrinogenemia, congenital
10FGG
11Agammaglobulinemia and isolated hormone deficiency
12BTK
13Agammaglobulinemia type 1, X-linked
14BTK
15Agammaglobulinemia type 2, autosomal recessive
16IGLL1
17Agammaglobulinemia type 3, autosomal recessive
18CD79A
19Agammaglobulinemia type 4, autosomal recessive
20BLNK
21Agammaglobulinemia type 5, autosomal recessive
22LRRC8A
23Agammaglobulinemia type 6, autosomal recessive
24CD79B
25Agammaglobulinemia type 7, autosomal recessive
26PIK3R1
27Alpha-thalassemia/mental retardation syndrome
28ATRX
29Anemia, neonatal hemolytic, fatal and near-fatal
30SPTB
31Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
32GLRX5
33Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
34SLC25A38
35Anemia, sideroblastic, type 4
36HSPA9
37Anemia, sideroblastic, with ataxia
38ABCB7
39Anemia, sideroblastic, X-linked
40ALAS2
41Anemia, X-linked
42GATA1
43Anhaptoglobinemia
44HP
45Bare lymphocyte syndrome, type 2, complementation group C
46RFX5
47Bleeding disorder, platelet-type 15
48ACTN1
49Bleeding disorder, platelet-type 17
50GFI1B
51Bleeding disorder, platelet-type 8
52P2RY12
53Bone marrow failure syndrome type 1
54SRP72
55Bone marrow failure syndrome type 2
56ERCC6L2
57Cyanosis, transient neonatal
58HBG2
59Dehydrated hereditary stomatocytosis
60PIEZO1
61Delta-beta thalassemia
62HBB
63Diamond Blackfan anemia type 15 with mandibulofacial dysostosis
64RPS28
65Diamond-Blackfan anemia type 1
66RPS19
67Diamond-Blackfan anemia type 10
68RPS26
69Diamond-Blackfan anemia type 11
70RPL26
71Diamond-Blackfan anemia type 12
72RPL15
73Diamond-Blackfan anemia type 13
74RPS29
75Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis
76TSR2
77Diamond-blackfan anemia type 3
78RPS24
79Diamond-Blackfan anemia type 4
80RPS17
81Diamond-Blackfan anemia type 5
82RPL35A
83Diamond-Blackfan anemia type 6
84RPL5
85Diamond-Blackfan anemia type 7
86RPL11
87Diamond-Blackfan anemia type 8
88RPS7
89Diamond-Blackfan anemia type 9
90RPS10
91Dyserythropoietic anemia
92COX4I2
93Dyserythropoietic anemia, congenital, type 1B
94C15orf41
95Dyserythropoietic anemia, congenital, type 3
96KIF23
97Dyserythropoietic anemia, congenital, type 4
98KLF1
99Dysprothrombinemia
100F2
101Erythrocytosis, familial type 1
102EPOR
103Erythrocytosis, familial type 3
104EGLN1
105Erythrocytosis, familial type 4
106EPAS1
107Factor X deficiency
108F10
109Favism, susceptibility to
110G6PD
111Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
112CYBA
113Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
114NCF2
115Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
116NCF4
117Granulomatous disease, chronic, X-linked
118CYBB
119Hemolytic anemia due to G6PD deficiency
120G6PD
121Hemolytic anemia due to triosephosphate isomerase deficiency
122TPI1
123Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy
124CD59
125Hemolytic anemia, Kell-system related
126KEL
127Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency
128GPI
129Hemophilia B
130F9
131Hereditary persistence of fetal hemoglobin
132HBG2
133Hydrops, lactic acidosis, and sideroblastic anemia
134LARS2
135Intrinsic factor deficiency
136CBLIF
137Iron-refractory iron deficiency anemia
138TMPRSS6
139Leukemia, acute myeloid form, susceptible due to TERT germline mutation
140TERT
141Leukocyte adhesion deficiency type 3
142FERMT3
143Lutheran inhibitor blood group
144KLF1
145Lymphoproliferative syndrome type 1
146ITK
147Lymphoproliferative syndrome, autoimmune, type 5
148CTLA4
149Lymphoproliferative syndrome, X-linked type 1
150SH2D1A
151Lymphoproliferative syndrome, X-linked type 2
152XIAP
153Megaloblastic anemia type 1
154AMN
155Megaloblastic anemia type 1, Finnish type
156CUBN
157Methemoglobinemia type 1
158CYB5R3
159Myeloproliferative disorder, chronic, with eosinophilia
160PDGFRB
161Neutropenia, severe congenital type 1
162ELANE
163Neutropenia, severe congenital type 3
164HAX1
165Neutropenia, severe congenital type 5, autosomal recessive
166VPS45
167Neutrophilia, hereditary
168CSF3R
169Platelet aggregation disorder
170PEAR1
171Platelet dense granule secretion defect, excessive bleeding
172FLI1
173Platelet disorder with associated myeloid malignancy
174RUNX1
175Platelet glycoprotein IV deficiency
176CD36
177Protoporphyria, erythropoietic, X-linked
178ALAS2
179Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
180GGCX
181Schimke immunoosseous dysplasia
182SMARCAL1
183SCID autosomal recessive T negative B positive type
184JAK3
185Sea-blue histiocyte disease
186APOE
187Shwachman-Diamond syndrome
188SBDS
189Sickle cell anemia
190HBB
191Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
192TRNT1
193Spherocytosis type 1
194ANK1
195Spherocytosis type 2
196SPTB
197Spherocytosis type 3
198SPTA1
199Spherocytosis type 5
200EPB42
201Stormorken syndrome
202STIM1
203Thalassemia, alpha
204HBA1
205Thalassemia, alpha
206HBA2
207Thalassemia, delta
208HBD
209Thiamine-responsive megaloblastic anemia syndrome
210SLC19A2
211Thrombocytopenia congenital amegakaryocytic
212MPL
213Thrombocytopenia type 2
214ANKRD26
215Thrombocytopenia type 2
216MASTL
217Thrombocytopenia type 4
218CYCS
219Thrombocytopenia type 5
220ETV6
221Thrombocytopenia with beta thalassemia X-linked
222GATA1
223Thrombocytopenia, neonatal alloimmune
224ITGA2B
225Thrombocytopenia, neonatal alloimmune
226ITGB3
227Thrombocytopenia, X-linked
228GATA1
229Thrombocytopenia, X-linked, intermittent
230WAS
231Thrombocytosis, familial, JAK2 related
232JAK2
233Thrombophilia due to thrombin defect
234F2
235Thrombophilia, X-linked, due to factor IX defect
236F9
237Thrombotic thrombocytopenic purpura
238ADAMTS13
239Thromboxane synthase deficiency
240TBXAS1
241Vitamin K-dependent clotting factors combined deficiency type 1
242GGCX
243von Willebrand disease
244VWF
245von Willebrand disease platelet type
246GP1BA
24717-beta hydroxysteroid dehydrogenase X deficiency
248HSD17B10
249Achalasia addisonianism alacrimia syndrome
250AAAS
251Acromegaly, predisposition to, due to germline GPR101 mutation
252GPR101
253Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete
254CYP11A1
255Adrenocorticotropic hormone deficiency
256TBX19
257Alport syndrome, autosomal recessive
258COL4A3
259Alport syndrome, autosomal recessive
260COL4A4
261Alport syndrome, X-Linked
262COL4A5
263Androgen insensitivity
264AR
265Androgen insensitivity, partial, with or without breast cancer
266AR
267Androgen-binding protein deficiency
268SHBG
269Arthrogryposis, renal dysfunction, and cholestasis type 2
270VIPAS39
271Bardet-Biedl syndrome type 1
272BBS1
273Bardet-Biedl syndrome type 10
274BBS10
275Bardet-Biedl syndrome type 11
276TRIM32
277Bardet-Biedl syndrome type 12
278BBS12
279Bardet-Biedl syndrome type 13
280MKS1
281Bardet-Biedl syndrome type 14
282CEP290
283Bardet-Biedl syndrome type 15
284WDPCP
285Bardet-Biedl syndrome type 2
286BBS2
287Bardet-Biedl syndrome type 3
288ARL6
289Bardet-Biedl syndrome type 4
290BBS4
291Bardet-Biedl syndrome type 5
292BBS5
293Bardet-Biedl syndrome type 6
294MKKS
295Bardet-Biedl syndrome type 7
296BBS7
297Bardet-Biedl syndrome type 8
298TTC8
299Bardet-Biedl syndrome type 9
300BBS9
301Bardet-Biedl syndrome, LZTFL1 related
302LZTFL1
303Bardet-Biedl syndrome, modifier of, CCDC28B related
304CCDC28B
305Bartter syndrome
306SLC12A2
307Bartter syndrome
308SLC12A3
309Bartter syndrome
310SLC12A5
311Bartter syndrome
312SLC12A7
313Bartter syndrome type 1
314SLC12A1
315Bartter syndrome type 2
316KCNJ1
317Bartter syndrome type 3
318CLCNKB
319Bartter syndrome type 4a
320BSND
321Bartter syndrome type 4b
322CLCNKA
323Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
324IARS2
325Cholestasis, infantile, NR1H4 related
326NR1H4
327Crigler-Najjar syndrome, type 1
328UGT1A1
329Crigler-Najjar syndrome, type 2
330UGT1A1
331Cryptorchidism
332RXFP2
333Cystinosis, nephropathic
334CTNS
335Cystinuria
336PREPL
337Cystinuria
338SLC3A1
339Cystinuria
340SLC7A9
341Dent disease
342CLCN5
343Diabetes insipidus, nephrogenic, autosomal
344AQP2
345Dubin-Johnson syndrome
346ABCC2
347Endocrine-cerebroosteodysplasia
348ICK
349Epstein syndrome
350MYH9
351Estrogen resistance
352ESR1
353Factor XI deficiency
354F11
355Factor XII deficiency
356F12
357Factor XIIIA deficiency
358F13A1
359Fanconi renotubular syndrome type 2
360SLC34A1
361Fanconi-Bickel syndrome
362SLC2A2
363Focal segmental glomerulosclerosis and dilated cardiomyopath, MT-TY related
364MT-TY
365Focal segmental glomerulosclerosis type 1
366ACTN4
367Focal segmental glomerulosclerosis type 2
368TRPC6
369Focal segmental glomerulosclerosis type 3
370CD2AP
371Focal segmental glomerulosclerosis type 4, susceptibility to
372APOL1
373Focal segmental glomerulosclerosis type 5
374INF2
375Focal segmental glomerulosclerosis type 6
376MYO1E
377Focal segmental glomerulosclerosis type 7
378PAX2
379Focal segmental glomerulosclerosis type 8
380ANLN
381Focal segmental glomerulosclerosis type 9
382CRB2
383Focal segmental glomerulosclerosis, LAMA5 related
384LAMA5
385FSH releasing protein deficiency
386INHBA
387Gilbert syndrome
388UGT1A1
389Gitelman syndrome
390SLC12A3
391Glomerulocystic kidney disease with hyperuricemia and isosthenuria
392UMOD
393Glucocorticoid deficiency type 4, with or without mineralocorticoid deficiency
394NNT
395Glucocorticoid resistance, generalized
396NR3C1
397Glycine encephalopathy
398AMT
399Glycine encephalopathy
400GLDC
401Glycine N-methyltransferase deficiency
402GNMT
403Goitre, multinodular
404KEAP1
405Growth hormone deficiency
406GH1
407Growth hormone deficiency
408GHRHR
409Growth hormone insensitivity with immunodeficiency
410STAT5B
411Hemolytic uremic syndrome
412CFB
413Hemolytic uremic syndrome
414CFH
415Hemolytic uremic syndrome
416CFHR1
417Hemolytic uremic syndrome
418CFHR2
419Hemolytic uremic syndrome
420CFHR3
421Hemolytic uremic syndrome
422CFHR4
423Hemolytic uremic syndrome
424CFHR5
425Hemolytic uremic syndrome
426CFI
427Hemolytic uremic syndrome
428THBD
429Hemolytic uremic syndrome, atypical type 2, susceptibility to
430CD46
431Hepatic failure, early onset, and neurologic disorder
432SCO1
433Hepatic venoocclusive disease with immunodeficiency
434SP110
435Hyperaldosteronism type 3
436KCNJ5
437Hyperbilirubinemia, familial transient neonatal
438UGT1A1
439Hyperbilirubinemia, Rotor type
440SLCO1B1
441Hyperbilirubinemia, Rotor type
442SLCO1B3
443Hyperparathyroidism type 1, familial
444CDC73
445Hyperparathyroidism type 2, familial
446CDC73
447Hyperparathyroidism, neonatal severe
448CASR
449Hypertriglyceridemia, transient infantile
450GPD1
451Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
452SARS2
453Hyperuricemic nephropathy, familial juvenile type 1
454UMOD
455Hypocalcemia, autosomal dominant, with Bartter syndrome
456CASR
457Hypocalciuric hypercalcemia, type 1
458CASR
459Hypogonadotropic hypogonadism
460KISS1R
461Hypogonadotropic hypogonadism
462LHB
463Hypogonadotropic hypogonadism
464NSMF
465Hypogonadotropic hypogonadism type 10 with or without anosmia
466TAC3
467Hypogonadotropic hypogonadism type 11 with or without anosmia
468TACR3
469Hypogonadotropic hypogonadism type 12 with or without anosmia
470GNRH1
471Hypogonadotropic hypogonadism type 15 with or without anosmia
472HS6ST1
473Hypogonadotropic hypogonadism type 3 with or without anosmia
474PROKR2
475Hypogonadotropic hypogonadism type 7 with or without anosmia
476GNRHR
477Hypoparathyroidism
478PTH
479Hypoparathyroidism, familial isolated
480GCM2
481Hypoparathyroidism, sensorineural deafness, and renal dysplasia
482GATA3
483Hypoparathyroidism-retardation-dysmorphism syndrome
484TBCE
485Hypophosphatemic rickets
486CLCN5
487Hypothyroidism congenital nongoitrous type 1
488TSHR
489Hypothyroidism congenital nongoitrous type 2, familial
490PAX8
491Hypothyroidism congenital nongoitrous type 4
492TSHB
493Hypothyroidism congenital nongoitrous type 6
494THRA
495Hypothyroidism, isolated, TRHR related
496TRHR
497Hypotonia-cystinuria syndrome
498PREPL
499Hypouricemia, renal type 1
500SLC22A12
501Hypouricemia, renal type 2
502SLC2A9
503Immunodeficiency with natural killer cell deficiency
504MCM4
505Immunodeficiency, common variable type 7
506CR2
507Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia
508MAGT1
509Infantile liver failure syndrome type 2
510NBAS
511Interstitial nephritis karyomegalic
512FAN1
513Intrahepatic cholestasis of pregnancy, NR1H4 related
514NR1H4
515Johanson Blizzard syndrome
516UBR1
517Kallmann syndrome type 1
518ANOS1
519Kallmann syndrome type 2
520FGFR1
521Kallmann syndrome type 4
522PROK2
523Kallmann syndrome, SEMA3A related
524SEMA3A
525Laron syndrome
526GHR
527Liddle syndrome
528SCNN1B
529Liddle syndrome
530SCNN1G
531Lipoid congenital adrenal hyperplasia
532STAR
533Lipoprotein glomerulopathy
534APOE
535Liver failure transient infantile
536TRMU
537Lowe oculocerebrorenal syndrome
538OCRL
539LYSINURIC PROTEIN INTOLERANCE
540SLC7A7
541McKusick-Kaufman syndrome
542MKKS
543Meckel syndrome type 1
544MKS1
545Meckel syndrome type 10
546B9D2
547Meckel syndrome type 3
548TMEM67
549Meckel syndrome type 4
550CEP290
551Meckel syndrome type 8
552TCTN2
553Meckel syndrome type 9
554B9D1
555Medullary cystic kidney disease type 2
556UMOD
557Menkes disease
558ATP7A
559Mirage syndrome
560SAMD9
561Multiple endocrine neoplasia type 1
562MEN1
563Nephrogenic syndrome of inapproriate antidiuresis
564AVPR2
565Nephrolithiasis type 1
566CLCN5
567Nephrolithiasis/osteoporosis, hypophosphatemic, type 1
568SLC34A1
569Nephrolithiasis/osteoporosis, hypophosphatemic, type 2
570SLC9A3R1
571Nephronophthisis type 1
572NPHP1
573Nephronophthisis type 12
574TTC21B
575Nephronophthisis type 13
576WDR19
577Nephronophthisis type 14
578ZNF423
579Nephronophthisis type 15
580CEP164
581Nephronophthisis type 16
582ANKS6
583Nephronophthisis type 19
584DCDC2
585Nephronophthisis type 2
586INVS
587Nephronophthisis type 3
588NPHP3
589Nephronophthisis type 4
590NPHP4
591Nephronophthisis type 7
592GLIS2
593Nephronophthisis type 9
594NEK8
595Nephronophthisis-like nephropathy type 1
596XPNPEP3
597Nephrosis, Finnish type
598NPHS1
599Nephrotic syndrome
600NPHS2
601Nephrotic syndrome type 2
602NPHS1
603Nephrotic syndrome type 3
604PLCE1
605Nephrotic syndrome type 5
606LAMB2
607Nephrotic syndrome type 7
608DGKE
609Nephrotic syndrome type 8
610ARHGDIA
611Nephrotic syndrome type 9
612COQ8B
613Obesity
614MC4R
615Obesity due to leptin deficiency
616LEP
617Obesity with adrenal insufficiency and red hair
618POMC
619Obesity with impaired prohormone processing
620PCSK1
621Obesity, early-onset, susceptibility to
622POMC
623Obesity, severe
624PPARG
625Obesity, susceptibility to, SLC6A14 related
626SLC6A14
627Ovalocytosis
628SLC4A1
629Pancreatitis
630CTRC
631Pancreatitis
632PRSS1
633Pancreatitis
634SPINK1
635Pancreatitis, chronic, early onset
636CPA1
637Pancreatitis, chronic, protection against
638PRSS2
639Panhypopituitarism, X-linked
640SOX3
641Parathyroid adenoma with cystic changes, familial
642CDC73
643Pendred syndrome
644SLC26A4
645Pigmented nodular adrenocortical disease type 1, primary
646PRKAR1A
647Pituitary hormone deficiency, combined type 3
648LHX3
649Pituitary hormone deficiency, combined type 4
650LHX4
651Polycystic kidney and hepatic disease
652PKHD1
653Polycystic kidney disease type 1, autosomal dominant
654PKD1
655Polycystic kidney disease type 1, autosomal recessive
656PKHD1
657Polycystic kidney disease type 2, autosomal dominant
658PKD2
659Polycystic liver disease
660PRKCSH
661Polycystic ovary syndrome type 1
662SULT2A1
663Polycystic ovary syndrome type 1
664SULT2B1
665Precocious puberty, male
666LHCGR
667Premature ovarian failure type 1
668FMR1
669Primary aldosteronism, seizures, and neurologic abnormalities
670CACNA1D
671Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis
672CLCN5
673Pseudohypoaldosteronism, type 1, autosomal dominant
674NR3C2
675Pseudohypoaldosteronism, type 1, autosomal recessive
676SCNN1A
677Pseudohypoaldosteronism, type 1, autosomal recessive
678SCNN1B
679Pseudohypoaldosteronism, type 1, autosomal recessive
680SCNN1G
681Pseudohypoaldosteronism, type 2B
682WNK4
683Pseudohypoparathyroidism type 1A
684GNAS
685Pseudohypoparathyroidism type 1B
686GNAS
687Pseudohypoparathyroidism type 1C
688GNAS
689Pseudopseudohypoparathyroidism
690GNAS
691Renal cystic dysplasia, cystic, susceptibility to
692BICC1
693Renal dysfunction due to SLC26A1 deficiency
694SLC26A1
695Renal glucosuria
696SLC5A2
697Renal tubular acidosis with deafness
698ATP6V1B1
699Renal tubular acidosis, distal, autosomal recessive
700ATP6V0A4
701Renal tubular acidosis, proximal, with ocular abnormalities
702SLC4A4
703Renal tubular acidosis, SLC4A5 related
704SLC4A5
705Renal tubular dysgenesis
706ACE
707Renal tubular dysgenesis
708AGT
709Renal tubular dysgenesis
710AGTR1
711Renal tubular dysgenesis
712REN
713Senior-Loken syndrome type 6
714CEP290
715Senior-Loken syndrome type 7
716SDCCAG8
717Senior-Loken syndrome type 8
718WDR19
719SERKAL syndrome
720WNT4
721Thromocytopenia-Absent-Radius-Syndrome
722RBM8A
723Thyroid dyshormonogenesis type 1
724SLC5A5
725Thyroid dyshormonogenesis type 2A
726TPO
727Thyroid dyshormonogenesis type 3
728TG
729Thyroid dyshormonogenesis type 4
730IYD
731Thyroid dyshormonogenesis type 5
732DUOXA2
733Thyroid dyshormonogenesis type 6
734DUOX1
735Thyroid dyshormonogenesis type 6
736DUOX2
737Thyroid hormone metabolism abnormal
738SECISBP2
739Thyroid hormone resistance
740THRB
741Trifunctional protein deficiency
742HADHB
743Ventriculomegaly with cystic kidney disease
744CRB2
745Vesicoureteral reflux type 2
746ROBO2
747Vesicoureteral reflux type 3
748SOX17
749Wilms tumor type 1, familial
750WT1
751Wilson-Turner syndrome
752LAS1L
753Wolcott-Rallison syndrome
754EIF2AK3

CENTOGEN & Intergenes
CONSULTANT

Intergenes - Turkey

bone diseases
Intergenes

Bone Diseases

No.Description
1Achondrogenesis type 1b (SLC26A2 gene)
2Achondroplasia (FGFR3 gene- G1138A and G1138C) Targeted mutation analysis
3Acromicric dysplasia (FBN1 gene)
4Anauxetic dysplasia (RMRP gene)
5Atelosteogenesis type 2 (SLC26A2 gene)
6Bent bone dysplasia syndrome (FGFR2 gene)
7Brachydactyly, type B1 (ROR2 gene)
8Caffey disease (COL1A1 gene)
9Crouzon syndrome with acanthosis nigricans (FGFR3 gene)
10De la Chapelle dysplasia (SLC26A2 gene)
11Diastrophic dysplasia (SLC26A2 gene)
12Epiphyseal dysplasia, Type 4 (SLC26A2 gene)
13Gracile bone dysplasia (FAM111A gene)
14Hypochondroplasia (FGFR3 gene) (
15Arthropathy, progressive, spondyloepiphyseal dysplasia tarda (WISP3 gene)
16Tarsal-carpal coalition syndrome (NOG gene)
17Kenny-Caffey syndrome-1 (TBCE gene)
18Cleidocranial dysostosis (RUNX2 gene) (
19Klippel Feil syndrome- Type 3 - Autosomal Dominant (GDF3 gene)
20Larsen syndrome (FLNB gene)
21Metaphyseal dysplasia without hypotrichosis (RMRP gene)
22Muenke syndrome (FGFR3 gene)
23Nail-patella syndrome (LMX1B gene)
24Osteogenesis imperfecta, type 7 (CRTAP genes)
25Osteopetrosis, autosomal recessive 1 (TCIRG1 gene)
26Pycnodysostosis (CTSK gene)
27Robinow syndrome (ROR2 gene)
28Cartilage-hair hypoplasia (RMRP gene)
29Shprintzen-Goldberg Craniosynostosis Syndrome (FBN1 gene)
30Spondylocostal Dysostosis (DLL3 gene)
31Spondylometaepiphyseal dysplasia, short limb-hand type (DDR2 geni)
32Thanatophoric dysplasia type 1 and type 2 (FGFR3 gene)

Hematology
Modal Title

Hematology

No.Description
1Alpha-thalassemia (HBA1, HBA2 ve HBZ genes) (Deletion analysis- MLPA)
2Beta-thalassemia (HBB gene)
3BOMBAY PHENOTYPE - PARA-BOMBAY PHENOTYPE (FUT1 gene)
4Del (20q) (FISH)
5A.11q22.3 (ATM Deletion) (FISH)
6B.11q23 Deletion (FISH)
7C.13q14.3 Deletion (RB1) (FISH)
8D.19p13 (E2A) (Breakapart) (FISH)
9E.20q12 (20q) Deletion (FISH)
10F.5q31 Deletion (EGR1) (FISH)
11G.7q31 Deletion (FISH)
12H.8 Trisomy/ Monosomy (FISH)
13I.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)
15K.FIP1L1/CHIC2/PDGFRA Deletion/Fusion (FISH)
16L.JAK2 V600E Mutation (Sequence analysis)
17M.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)
19O.Monosomy 4 (FISH)
20P.Monosomy 5 (FISH)
21Q.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
23S.P16 (FISH)
24T.P53 Gene (TP53) (17p13.1) (FISH)
25U.t (11;?) (q23;?) (MLL / ?) (MLL TRANSLOCATIONS) (FISH)
26V.t(14:16) (IGH/MAF) (FISH)
27W.t (3;3) (q21;q26) and inv (3) (q21q26) (EVI1) (FISH)
28X.t (4;11) (q21;q23) (MLL / AF4) (REAL-TIME PCR)
29Y.t(4;14) (IgH/ FGRF3) (FISH)
30Z.t (8;14) (q14;q32) (?-IGH) (FISH)
31Z1. Trisomy 10 (FISH)
32Z2. Trisomy 12 (FISH)
33 Z3. Von Willebrand disease, type 1,2A, 2B, 2M, 2N, 3 (VWF gene)
34Z4. 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)
36Diamond-Blackfan anemia 1 (RPS19 gene)
37Thrombophilia, X-linked, due to factor 9 defect (F9 gene)
38Hemophilia A (F8 gene)
39Hemophilia B (F9 gene)
40Thrombosis, hyperhomocysteinemic (CBS gene)
41Human Platelet Antigen (HPA1, HPA2, HPA3, HPA4, HPA5 and HPA15 genes, a and b alleles)
42inv (16) (p13;q22) (CBFB / MYH11)/ t (16;16) (p13;q22) (CBFB / MYH11) (REAL-TIME PCR)
43Chimerism (FISH) (Same gender)
44Sickle cell anemia (HBB gene) (GLU6VAL)
45t (11;14) (q13;q32) (IgH / CCND1) (FISH)
46t (12;21) (p13;q22) (TEL / AML1) (FISH)
47t (14;18) (q32;q21) (IgH / BCL2) (FISH)
48t (15;17) (q22;q21) (PML / RARA) (FISH)
49t (8;21) (q22;q22) (ETO / AML1) (FISH)
50t (9;22) (q34;q11.2) (BCR/ABL) (Philadelphia chromosome) (FISH)
51 Thrombocytopenia, congenital amegakaryocytic (MPL gene)
52Thrombocytopenia, X-linked (WAS gene)

cytogenetic
Modal Title

Cytogenetic

No.Description
1Amniotic fluid- Chromosome analysis
2Bloom syndrome (Kromozom analizi ve SCE-Sister Chromatid Exchange)
3Skin biopsy- Chromosome analysis
4DEB test (Fanconi anemia)
5Abortion- Chromosome analysis
6Fetal blood sample - Chromosome analysis
7Fragile-X chromosome analysis
8Gonad biopsy- Chromosome analysis
9High resolution (HRB) chromosome analysis
10ICF (Immundeficiency- Centromeric instability- Facial anomalies)
11SCE-Sister Chromatid Exchange
12Peripheral blood- Chromosome analysis
13Solid Tissue biopsy- Chromosome analysis
14Xseroderma pigmentosum

gastroenterlogy
Modal Title

Gastroenterology

No.Description
1Acrodermatitis Enteropathica (SLC39A4 gene)
2Alagille syndrome (JAG1 gene)
3Cholestasis, benign recurrent intrahepatic (ATP8B1, ABCB11 genes)
4Crigler–Najjar syndrome type 1 and type 2 (UGT1A1 gene)
5Dubin–Johnson syndrome (ABCC2 gene)
6Cholestasis, familial intrahepatic, of pregnancy (ABCB4 gene)
7Gilbert's syndrome (UGT1A1 gene)
8Cholestasis, progressive familial intrahepatic 1 (PFIC1) (ATP8B1 gene)
9Diarrhea 1, secretory chloride, congenital (SLC26A3 gene)
10Pancreatitis, chronic (CTRC gene)

Immunology
Modal Title

Immunology

No.Description
1Growth hormone insensitivity with immunodeficiency (STAT5B gene)
2Immunodeficiency due to defect in CD3-zeta (CD247 gene)
3Neutrophilia, hereditary (CSF3R gene)
4Hyper-IgE recurrent infection syndrome (STAT3 gene)
5IPEX syndrome (Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked)
6IRAK4 deficiency (IRAK4 gene)
7Immunodeficiency 23 (PGM3 gene)
8Immunodeficiency, common variable, 2 (TNFRSF13B gene)
9Invasive pneumococcal disease, recurrent isolated, 1 (IRAK4 gene)
10Combined cellular and humoral immune defects with granulomas (RAG1 gene)
11Complement C1q deficiency (C1QA, C1QB, C1QC genes)
12Kostmann disease (HAX1 gene)
13LIG4 sendromu (LIG4 gene)
14Nijmegen breakage syndrome (NBN Gene-c.657_661del5/ c.657_661del5657del5 mutations
15Neutrophil immunodeficiency syndrome (RAC2 gene)
16Omenn syndrome (RAG1 gene)
17Autoimmune Diseases (Autoimmune Hypothyroidism, type1 diabetes mellitus, etc) (CTLA4 gene)
18Macroglobulinemia, Waldenstrom, somatic (MYD88 gene)
19Reticular dysgenesis (AK2 gene)
20Neutropenia, cyclic (ELANE gene)
21Wiskott-Aldrich syndrome (WAS gene)
22Immunodeficiency, X-linked, with hyper-IgM (CD40LG gene)

Oncology
Modal Title
NO.TEST NAMESAMPLE TYPE
117-Hydroxypregnenolone24 Hrs Urine
217-OHP [17-Hydroxyprogesterone]Serum
35-HIAA [5-Hydroxyindole Acetic Acid]24 Hrs Urine
4ACE [Angiotensin Converting Enzyme] LevelSerum
5ACHR [Acetylcholine Receptor] Antibodies, Quantitative Serum
6ACTH [Adrenocorticotropic Hormone]Serum
7Activated Protein C Resistance, PCR Plasma [Sodium Citrate]
8Activated Protein C Resistance, PCR Whole Blood [EDTA]
9Adenovirus 
10ADH [Anti-diuretic Hormone] [Vasopressin]Plasma [EDTA] & Serum
11AFB SmearBody fluid
12AFB SmearSputum
13AFP [Alpha Fetoprotein]Serum
14AlbuminSerum
15AldolaseSerum
16Aldosterone level24 Hrs Urine
17Aldosterone level [Supine] Serum
18Aldosterone level [Up right] Serum
19Aldosterone/Renin Ratio (Supine) [ARR] 
20Aldosterone/Renin Ratio (Up right) [ARR] 
21Alkaline Phosphatase Iso-enzymesSerum
22Allergy, Food Panel [30 Allergens] Serum
23Allergy, Paediatric Panel [30 Allergens] Serum
24Allergy, Respiratory Panel [30 Allergens] Serum
25ALP [Alkaline Phosphatase]Serum
26Alpha Thalassemia TraitWhole Blood [EDTA]
27ALT [Alanine Aminotransferase] [GPT]Serum
28AMA [Anti Mitochondrial Antibody]Serum
29AMH [Anti Mullerian Hormone]Serum
30Amylase24 Hrs Urine
31AmylaseSpot Urine
32AmylaseBody Fluid
33AmylaseSerum
34ANA [Anti-Nuclear Antibody]Serum
35ANA LatexSerum
36ANA- Profile (All Profiles)Serum
37ANA- Profile:Serum
AIH [Autoimmune Hepatitis] [LKM1 Abs, LC1 Abs, SLA Abs, F-actin Abs]
38ANA- Profile:Serum
Autoimmune Gastritis [IF (intrinsic factor), PCA (Parietal Cell Antibodies)]
39ANA- Profile:Serum
Celiac Disease [Anti-gliadin Abs, Anti-tTG Abs]
40ANA- Profile:Serum
Goodpasture syndrome [GBM (Glomerular Basement Membrane)]
41ANA- Profile:Serum
Milk intolerance [ß-Lactoglobulin Abs]
42ANA- Profile:Serum
PBC [Primary Biliary Cirrhosis] [M2 Abs, M2/PDC-E2, M2/BCO ADC-E2, M2/OGDC-E2, gp210, sp100]
43ANA- 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]
44ANA- Profile:Serum
Sharp Syndrome [RNP Abs, Sm/RNP Abs]
45ANA- Profile:Serum
Sjogren’s Syndrome [Anti-SSA, TRIM21, SSB Abs]
46ANA- Profile:Serum
SLE [Systemic Lupus Erythromatosus] [ds-DNA Abs, Histone Protein, Nucleosome Abs, Sm Abs, Ribosome P protein (RPP) Abs, PCNA, Centromere Abs]
47ANA- Profile:Serum
Vasculitis syndrome [Proteinase 3 (RP3), Myeloperoxidase MPO, C-ANCA, P-ANCA]
48ANCA/PR3 [Antineutrophil Cytoplasmic Antibodies]Serum
49AndrogenSerum
50AndrostenedioneSerum
51Anti- Chlamydia Antibodies, IgA Serum
52Anti- Chlamydia Antibodies, IgG Serum
53Anti- Chlamydia Antibodies, IgM Serum
54Anti-Cardiolipin Antibodies, IgG Serum
55Anti-Cardiolipin Antibodies, IgM Serum
56Anti-Endomysial Antibodies, IgA Serum
57Anti-Endomysial Antibodies, IgG Serum
58Anti-GAD [Glutamic Acid Decarboxylase Abs] [GADA]Serum
59Anti-HBc Ab [Hepatitis B Core Antibodies, IgM] Serum
60Anti-HBc Ab [Hepatitis B Core Antibodies, Total] Serum
61Anti-HBe Ab [Hepatitis B Envelope Antibodies]Serum
62Anti-HBs Ab [Hepatitis B Surface Antibody] titerSerum
63Anti-Insulin AntibodiesSerum
64Anti-Intrinsic factorSerum
65Anti-La [Anti-SS-B Antibody]Serum
66Anti-Ro [Anti-SS-A Antibody]Serum
67Anti-Sm [Anti-Smith Antibodies]Serum
68Anti-Sperm AntibodySerum
69Anti-TG [Anti Thyroglobulin Antibodies]Serum
70Anti-Thrombin IIIPlasma [Sodium Citrate]
71Anti-TPO [Anti Thyroid Peroxidase Antibodies]Serum<