Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
SIX1
(HGNC:10887)
branchio-oto-renal syndrome
(MONDO_0007029)
 Strong
SKIC2
(HGNC:10898)
trichohepatoenteric syndrome
(MONDO_0009105)
 Strong
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)
 Moderate
SHOX
(HGNC:10853)
SHOX-related short stature
(MONDO_0010367)
 Strong
SHH
(HGNC:10848)
triphalangeal thumb-polysyndactyly syndrome
(MONDO_0017454)
 Moderate
SHH
(HGNC:10848)
solitary median maxillary central incisor syndrome
(MONDO_0007819)
 Limited
SGCD
(HGNC:10807)
dilated cardiomyopathy
(MONDO_0005021)
 Limited
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
SGCA
(HGNC:10805)
autosomal recessive limb-girdle muscular dystrophy
(MONDO_0015152)
 Strong
SGCD
(HGNC:10807)
autosomal recessive limb-girdle muscular dystrophy type 2F
(MONDO_0011028)
 Moderate
Showing 4161–4180 of 6699