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

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Gene Disease Score Actions
APC
(HGNC:583)
gastric adenocarcinoma and proximal polyposis of the stomach
(MONDO_0017790)
Strong
ATG12
(HGNC:588)
colorectal cancer
(MONDO_0005575)
Limited
APEX1
(HGNC:587)
amyotrophic lateral sclerosis
(MONDO_0004976)
Limited
APC
(HGNC:583)
Cenani-Lenz syndactyly syndrome
(MONDO_0008931)
Moderate
APC
(HGNC:583)
desmoid tumor
(MONDO_0007608)
Definitive
APC
(HGNC:583)
sarcoma
(MONDO_0005089)
Disputed
ABCC6
(HGNC:57)
arterial calcification, generalized, of infancy, 2
(MONDO_0013768)
Moderate
AP4S1
(HGNC:575)
hereditary spastic paraplegia 52
(MONDO_0013552)
Strong
AP4M1
(HGNC:574)
hereditary spastic paraplegia 50
(MONDO_0013048)
Moderate
AP4B1
(HGNC:572)
hereditary spastic paraplegia 47
(MONDO_0013551)
Strong
AP4E1
(HGNC:573)
hereditary spastic paraplegia 51
(MONDO_0013401)
Moderate
RBPJ
(HGNC:5724)
Adams-Oliver syndrome
(MONDO_0007034)
Strong
AP2S1
(HGNC:565)
familial hypocalciuric hypercalcemia 3
(MONDO_0010926)
Strong
AP1S2
(HGNC:560)
fried syndrome
(MONDO_0019428)
Strong
AP1S2
(HGNC:560)
syndromic X-linked intellectual disability 5
(MONDO_0010574)
Strong
AP1S2
(HGNC:560)
autism spectrum disorder
(MONDO_0005258)
Limited
AP1B1
(HGNC:554)
MEDNIK syndrome
(MONDO_0012251)
Limited
AP1B1
(HGNC:554)
ichthyosiform erythroderma, corneal involvement, and hearing loss
(MONDO_0009440)
Moderate
IGHMBP2
(HGNC:5542)
Charcot-Marie-Tooth disease axonal type 2S
(MONDO_0014511)
Strong
IGFBP7
(HGNC:5476)
familial retinal arterial macroaneurysm
(MONDO_0013640)
Limited
Showing 1221–1240 of 6681