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Over 2,000 gene–disease validation summaries are now available—no login required!

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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
GTF2IRD2
(HGNC:30775)
Williams syndrome
(MONDO_0008678)
 Limited
TTC21A
(HGNC:30761)
male infertility
(MONDO_0005372)
 Moderate
TARS2
(HGNC:30740)
combined oxidative phosphorylation defect type 21
(MONDO_0014398)
 Strong
CAND2
(HGNC:30689)
atrial fibrillation
(MONDO_0004981)
 Limited
SV2C
(HGNC:30670)
Parkinson disease
(MONDO_0005180)
 Limited
SEPSECS
(HGNC:30605)
pontocerebellar hypoplasia type 2D
(MONDO_0013438)
 Strong
SUSD2
(HGNC:30667)
myocardial ischemia
(MONDO_0024644)
 Limited
TADA1
(HGNC:30631)
intellectual disability
(MONDO_0001071)
 Limited
EPYC
(HGNC:3053)
posterior amorphous corneal dystrophy
(MONDO_0013027)
 Limited
DNAJC19
(HGNC:30528)
3-methylglutaconic aciduria type 5
(MONDO_0012435)
 Definitive
DSG1
(HGNC:3048)
striate palmoplantar keratoderma
(MONDO_0018865)
 Strong
DNAAF3
(HGNC:30492)
primary ciliary dyskinesia
(MONDO_0016575)
 Strong
DSG1
(HGNC:3048)
severe dermatitis-multiple allergies-metabolic wasting syndrome
(MONDO_0014218)
 Strong
IFT172
(HGNC:30391)
Bardet-Biedl syndrome
(MONDO_0015229)
 Moderate
PCMTD1
(HGNC:30483)
primary angle-closure glaucoma
(MONDO_0001868)
 Disputed
TMEM147
(HGNC:30414)
intellectual disability
(MONDO_0001071)
 Limited
RCCD1
(HGNC:30457)
breast cancer
(MONDO_0007254)
 Moderate
UBR3
(HGNC:30467)
neurodevelopmental disorder
(MONDO_0700092)
 Limited
RCCD1
(HGNC:30457)
exocrine pancreatic carcinoma
(MONDO_0005192)
 Limited
KLHL40
(HGNC:30372)
nemaline myopathy
(MONDO_0018958)
 Strong
Showing 5541–5560 of 6681