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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
PSMG1
(HGNC:3043)
inflammatory bowel disease
(MONDO_0005265)
 Limited
PSMG1
(HGNC:3043)
ulcerative colitis
(MONDO_0005101)
 Limited
PSMG1
(HGNC:3043)
Crohn disease
(MONDO_0005011)
 Limited
SH2D6
(HGNC:30439)
autism spectrum disorder
(MONDO_0005258)
 Limited
SPPL3
(HGNC:30424)
primary biliary cholangitis
(MONDO_0005388)
 Limited
SPPL3
(HGNC:30424)
systemic sclerosis
(MONDO_0005100)
 Limited
PHB2
(HGNC:30306)
chronic granulomatous disease
(MONDO_0018305)
 Refuted
LRIF1
(HGNC:30299)
facioscapulohumeral muscular dystrophy
(MONDO_0001347)
 Limited
RBM47
(HGNC:30358)
type 1 diabetes mellitus
(MONDO_0005147)
 Disputed
LEO1
(HGNC:30401)
neurodevelopmental disorder
(MONDO_0700092)
 Moderate
RGL1
(HGNC:30281)
intellectual disability
(MONDO_0001071)
 Disputed
AEBP1
(HGNC:303)
Ehlers-Danlos syndrome
(MONDO_0020066)
 Strong
PYGO2
(HGNC:30257)
azoospermia
(MONDO_0100459)
 Limited
PYGO2
(HGNC:30257)
male infertility
(MONDO_0005372)
 Limited
RALGPS2
(HGNC:30279)
type 2 diabetes mellitus
(MONDO_0005148)
 Limited
TUSC3
(HGNC:30242)
intellectual disability
(MONDO_0001071)
 Strong
PCP2
(HGNC:30209)
relapsing polychondritis
(MONDO_0019125)
 Limited
ZFAND6
(HGNC:30164)
type 2 diabetes mellitus
(MONDO_0005148)
 Limited
TBKBP1
(HGNC:30140)
ankylosing spondylitis
(MONDO_0005306)
 Limited
LZTS3
(HGNC:30139)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Limited
Showing 5561–5580 of 6681