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
WLS
(HGNC:30238)
Zaki syndrome
(MONDO_0859209)
 Moderate
CC2D1A
(HGNC:30237)
autosomal recessive non-syndromic intellectual disability
(MONDO_0019502)
 Strong
PREPL
(HGNC:30228)
myasthenic syndrome, congenital, 22
(MONDO_0044299)
 Strong
PREPL
(HGNC:30228)
hypotonia-cystinuria syndrome
(MONDO_0011669)
 Strong
SLC52A1
(HGNC:30225)
ariboflavinosis
(MONDO_0004573)
 Limited
SLC52A2
(HGNC:30224)
Brown-Vialetto-van Laere syndrome 2
(MONDO_0013867)
 Strong
RFT1
(HGNC:30220)
RFT1-congenital disorder of glycosylation
(MONDO_0012783)
 Strong
ATP13A2
(HGNC:30213)
Kufor-Rakeb syndrome
(MONDO_0011706)
 Definitive
CRBN
(HGNC:30185)
autosomal recessive non-syndromic intellectual disability
(MONDO_0019502)
 Moderate
STRADA
(HGNC:30172)
polyhydramnios, megalencephaly, and symptomatic epilepsy
(MONDO_0012611)
 Strong
DPYSL2
(HGNC:3014)
schizophrenia
(MONDO_0005090)
 Disputed
DPYS
(HGNC:3013)
dihydropyrimidinuria
(MONDO_0009111)
 Definitive
DPYD
(HGNC:3012)
dihydropyrimidine dehydrogenase deficiency
(MONDO_0010130)
 Definitive
POP1
(HGNC:30129)
anauxetic dysplasia
(MONDO_0011773)
 Moderate
DPP6
(HGNC:3010)
paroxysmal familial ventricular fibrillation
(MONDO_0100234)
 Strong
PSENEN
(HGNC:30100)
Dowling-Degos disease
(MONDO_0008371)
 Strong
REEP6
(HGNC:30078)
retinitis pigmentosa 77
(MONDO_0015013)
 Strong
POLR3A
(HGNC:30074)
leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
(MONDO_0011897)
 Strong
POLR3A
(HGNC:30074)
odontoleukodystrophy
(MONDO_0019177)
 Definitive
KIAA0319L
(HGNC:30071)
systemic lupus erythematosus
(MONDO_0007915)
 Limited
Showing 1941–1960 of 6681