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
ROPN1L
(HGNC:24060)
breast cancer
(MONDO_0007254)
Limited
TOR1AIP2
(HGNC:24055)
early-onset generalized limb-onset dystonia
(MONDO_0007492)
Limited
TOR1AIP2
(HGNC:24055)
dystonic disorder
(MONDO_0003441)
Limited
CREBRF
(HGNC:24050)
obesity disorder
(MONDO_0011122)
Strong
CREBRF
(HGNC:24050)
type 2 diabetes mellitus
(MONDO_0005148)
Moderate
NOC3L
(HGNC:24034)
gastric cancer
(MONDO_0001056)
Moderate
NDUFA12
(HGNC:23987)
Leigh syndrome
(MONDO_0009723)
Strong
MOB3B
(HGNC:23825)
amyotrophic lateral sclerosis
(MONDO_0004976)
Disputed
PLD4
(HGNC:23792)
primary biliary cholangitis
(MONDO_0005388)
Limited
PLD4
(HGNC:23792)
systemic sclerosis
(MONDO_0005100)
Limited
CERS5
(HGNC:23749)
hypertensive disorder
(MONDO_0005044)
Limited
PTF1A
(HGNC:23734)
neonatal diabetes mellitus
(MONDO_0016391)
Strong
ARHGAP21
(HGNC:23725)
autism spectrum disorder
(MONDO_0005258)
Limited
BCL9L
(HGNC:23688)
B-cell chronic lymphocytic leukemia
(MONDO_0004948)
Limited
ERMP1
(HGNC:23703)
keratoconus
(MONDO_0015486)
Limited
MAMDC2
(HGNC:23673)
intellectual disability
(MONDO_0001071)
Limited
GLT6D1
(HGNC:23671)
periodontitis
(MONDO_0005076)
Limited
PLGRKT
(HGNC:23633)
polycystic ovary syndrome
(MONDO_0008487)
Limited
GLT6D1
(HGNC:23671)
acute pericementitis
(MONDO_0001028)
Limited
SLCO4C1
(HGNC:23612)
melanoma
(MONDO_0005105)
Disputed
Showing 5921–5940 of 6681