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

Gene–Disease Browser

Need updated, customized, evidence‑backed summaries? Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
Gene Disease Score Actions
VPS4B
(HGNC:10895)
dentin dysplasia type I
(MONDO_0007436)
Limited
SIX5
(HGNC:10891)
branchio-oto-renal syndrome
(MONDO_0007029)
Disputed
SIX1
(HGNC:10887)
branchio-oto-renal syndrome
(MONDO_0007029)
Moderate
SKIC2
(HGNC:10898)
trichohepatoenteric syndrome
(MONDO_0009105)
Definitive
SIX1
(HGNC:10887)
branchiootic syndrome
(MONDO_0018878)
Strong
SIX3
(HGNC:10889)
holoprosencephaly
(MONDO_0016296)
Definitive
ST3GAL3
(HGNC:10866)
West syndrome
(MONDO_0018097)
Moderate
ST8SIA2
(HGNC:10870)
schizophrenia
(MONDO_0005090)
Limited
SHOX
(HGNC:10853)
SHOX-related short stature
(MONDO_0010367)
Strong
SHH
(HGNC:10848)
triphalangeal thumb-polysyndactyly syndrome
(MONDO_0017454)
Strong
SHH
(HGNC:10848)
solitary median maxillary central incisor syndrome
(MONDO_0007819)
Limited
SGCD
(HGNC:10807)
dilated cardiomyopathy
(MONDO_0005021)
Disputed
SH3BP2
(HGNC:10825)
cherubism
(MONDO_0007315)
Definitive
BMPR1B
(HGNC:1077)
brachydactyly type A2
(MONDO_0007216)
Strong
SGPL1
(HGNC:10817)
nephrotic syndrome 14
(MONDO_0033203)
Strong
SH2D1A
(HGNC:10820)
X-linked lymphoproliferative disease due to SH2D1A deficiency
(MONDO_0024551)
Definitive
SGCB
(HGNC:10806)
autosomal recessive limb-girdle muscular dystrophy
(MONDO_0015152)
Strong
SGCG
(HGNC:10809)
autosomal recessive limb-girdle muscular dystrophy
(MONDO_0015152)
Strong
SGK3
(HGNC:10812)
hypophosphatemic rickets
(MONDO_0024300)
Limited
SGCD
(HGNC:10807)
autosomal recessive limb-girdle muscular dystrophy
(MONDO_0015152)
Limited
Showing 4141–4160 of 6681