Variant Synonymizer: Platform to identify mutations defined in different ways is available now!

VarSy

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

Browse Summaries

Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
Back to Open Access Summaries

Gene–Disease Browser

Need updated, customized, evidence‑backed summaries? Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
Contact us
Gene Disease Score Actions
TPK1
(HGNC:17358)
Leigh syndrome
(MONDO_0009723)
 Moderate
CDC45
(HGNC:1739)
Meier-Gorlin syndrome 7
(MONDO_0014894)
 Strong
CDC45
(HGNC:1739)
Meier-Gorlin syndrome
(MONDO_0016817)
 Strong
PRPF4
(HGNC:17349)
retinitis pigmentosa
(MONDO_0019200)
 Moderate
CDC42
(HGNC:1736)
macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
(MONDO_0014757)
 Strong
BRWD3
(HGNC:17342)
West syndrome
(MONDO_0018097)
 Limited
PRPF3
(HGNC:17348)
retinitis pigmentosa
(MONDO_0019200)
 Strong
PRPF8
(HGNC:17340)
neurodevelopmental disorder
(MONDO_0700092)
 Limited
BRWD3
(HGNC:17342)
childhood epilepsy with centrotemporal spikes
(MONDO_0007295)
 Limited
PRPF8
(HGNC:17340)
retinitis pigmentosa
(MONDO_0019200)
 Definitive
PRPF8
(HGNC:17340)
glaucoma
(MONDO_0005041)
 Limited
CDK13
(HGNC:1733)
syndromic intellectual disability
(MONDO_0000508)
 Definitive
DTNBP1
(HGNC:17328)
Hermansky-Pudlak syndrome 7
(MONDO_0013559)
 Moderate
WAC
(HGNC:17327)
DeSanto-Shinawi syndrome
(MONDO_0018760)
 Strong
RRM2B
(HGNC:17296)
mitochondrial neurogastrointestinal encephalomyopathy
(MONDO_0017575)
 Limited
RIMS1
(HGNC:17282)
autism spectrum disorder
(MONDO_0005258)
 Limited
SP7
(HGNC:17321)
osteogenesis imperfecta type 12
(MONDO_0013460)
 Moderate
APOA5
(HGNC:17288)
hyperlipoproteinemia type V
(MONDO_0007762)
 Moderate
RRM2B
(HGNC:17296)
Kearns-Sayre syndrome
(MONDO_0010787)
 Disputed
DHX37
(HGNC:17210)
46,XY sex reversal 11
(MONDO_8000015)
 Strong
Showing 3101–3120 of 6681