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!

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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
AGMAT
(HGNC:18407)
3-methylglutaconic aciduria type 1
(MONDO_0009610)
 Strong
RAX2
(HGNC:18286)
inherited retinal dystrophy
(MONDO_0019118)
 Moderate
PADI1
(HGNC:18367)
periodontitis
(MONDO_0005076)
 Limited
CLYBL
(HGNC:18355)
vitamin B12 deficiency
(MONDO_0020696)
 Limited
ACER1
(HGNC:18356)
Farber lipogranulomatosis
(MONDO_0009218)
 Strong
CEACAM8
(HGNC:1820)
essential thrombocythemia
(MONDO_0005029)
 Limited
CENPM
(HGNC:18352)
schizophrenia
(MONDO_0005090)
 Limited
RAD18
(HGNC:18278)
colorectal cancer
(MONDO_0005575)
 Limited
DHRS2
(HGNC:18349)
type 2 diabetes mellitus
(MONDO_0005148)
 Limited
PRIMA1
(HGNC:18319)
atherosclerosis
(MONDO_0005311)
 Limited
TMLHE
(HGNC:18308)
autism
(MONDO_0005260)
 Limited
TMLHE
(HGNC:18308)
autism spectrum disorder
(MONDO_0005258)
 Limited
TRERF1
(HGNC:18273)
intellectual disability
(MONDO_0001071)
 Limited
TPCN1
(HGNC:18182)
Alzheimer disease
(MONDO_0004975)
 Limited
COQ3
(HGNC:18175)
multiple sclerosis
(MONDO_0005301)
 Limited
CD244
(HGNC:18171)
rheumatoid arthritis
(MONDO_0008383)
 Limited
TRPV3
(HGNC:18084)
Olmsted syndrome
(MONDO_0031421)
 Definitive
TMEM199
(HGNC:18085)
congenital disorder of glycosylation
(MONDO_0015286)
 Moderate
RNF115
(HGNC:18154)
breast cancer
(MONDO_0007254)
 Limited
STYXL1
(HGNC:18165)
epilepsy
(MONDO_0005027)
 Disputed
Showing 6201–6220 of 6681