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
RNF168
(HGNC:26661)
RIDDLE syndrome
(MONDO_0012764)
 Moderate
LOXHD1
(HGNC:26521)
autosomal recessive nonsyndromic hearing loss 77
(MONDO_0013119)
 Strong
CYP7B1
(HGNC:2652)
hereditary spastic paraplegia 5A
(MONDO_0010047)
 Definitive
POC5
(HGNC:26658)
retinitis pigmentosa
(MONDO_0019200)
 Strong
WDR81
(HGNC:26600)
cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
(MONDO_0012430)
 Moderate
DOK7
(HGNC:26594)
fetal akinesia deformation sequence 1
(MONDO_0100101)
 Moderate
DOK7
(HGNC:26594)
congenital myasthenic syndrome 10
(MONDO_0009690)
 Definitive
UNC80
(HGNC:26582)
hypotonia, infantile, with psychomotor retardation and characteristic facies 2
(MONDO_0014777)
 Definitive
ODAD1
(HGNC:26560)
primary ciliary dyskinesia 20
(MONDO_0014030)
 Moderate
CFAP53
(HGNC:26530)
situs inversus
(MONDO_0010029)
 Moderate
DZIP1L
(HGNC:26551)
autosomal recessive polycystic kidney disease
(MONDO_0009889)
 Moderate
CYP7B1
(HGNC:2652)
congenital bile acid synthesis defect 3
(MONDO_0013439)
 Limited
HGSNAT
(HGNC:26527)
retinitis pigmentosa
(MONDO_0019200)
 Strong
HGSNAT
(HGNC:26527)
mucopolysaccharidosis type 3
(MONDO_0018937)
 Definitive
LOXHD1
(HGNC:26521)
Fuchs' endothelial dystrophy
(MONDO_0005321)
 Disputed
AGBL1
(HGNC:26504)
Fuchs' endothelial dystrophy
(MONDO_0005321)
 Disputed
NARS2
(HGNC:26274)
Leigh syndrome
(MONDO_0009723)
 Strong
ZMAT2
(HGNC:26433)
congenital radioulnar synostosis
(MONDO_0017985)
 Limited
UROC1
(HGNC:26444)
urocanic aciduria
(MONDO_0010167)
 Limited
HEPACAM
(HGNC:26361)
megalencephalic leukoencephalopathy with subcortical cysts
(MONDO_0011391)
 Definitive
Showing 2221–2240 of 6681