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
BRIP1
(HGNC:20473)
Fanconi anemia
(MONDO_0019391)
 Definitive
BRIP1
(HGNC:20473)
hereditary breast carcinoma
(MONDO_0016419)
 Limited
TRAF7
(HGNC:20456)
cardiac, facial, and digital anomalies with developmental delay
(MONDO_0032572)
 Strong
BRIP1
(HGNC:20473)
familial ovarian cancer
(MONDO_0016248)
 Moderate
NME7
(HGNC:20461)
situs inversus
(MONDO_0010029)
 Limited
POLR1B
(HGNC:20454)
Treacher-Collins syndrome
(MONDO_0002457)
 Strong
UPF3B
(HGNC:20439)
X-linked intellectual disability with marfanoid habitus
(MONDO_0010655)
 Limited
SPATA7
(HGNC:20423)
Leber congenital amaurosis
(MONDO_0018998)
 Strong
SPATA7
(HGNC:20423)
retinitis pigmentosa
(MONDO_0019200)
 Moderate
POLR1D
(HGNC:20422)
Treacher-Collins syndrome
(MONDO_0002457)
 Strong
CLDN19
(HGNC:2040)
renal hypomagnesemia 5 with ocular involvement
(MONDO_0009548)
 Strong
CLDN2
(HGNC:2041)
hereditary chronic pancreatitis
(MONDO_0008185)
 Limited
NDUFB11
(HGNC:20372)
mitochondrial disease
(MONDO_0044970)
 Strong
NDUFA11
(HGNC:20371)
mitochondrial complex I deficiency
(MONDO_0100133)
 Limited
CLDN14
(HGNC:2035)
autosomal recessive nonsyndromic hearing loss 29
(MONDO_0013537)
 Moderate
CLDN1
(HGNC:2032)
neonatal ichthyosis-sclerosing cholangitis syndrome
(MONDO_0011874)
 Strong
VIPAS39
(HGNC:20347)
arthrogryposis-renal dysfunction-cholestasis syndrome
(MONDO_0017123)
 Strong
CLDN10
(HGNC:2033)
HELIX syndrome
(MONDO_0060564)
 Strong
SLITRK1
(HGNC:20297)
Tourette syndrome
(MONDO_0007661)
 Disputed
TRIT1
(HGNC:20286)
combined oxidative phosphorylation deficiency 35
(MONDO_0054742)
 Definitive
Showing 2761–2780 of 6681