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
TP53I3
(HGNC:19373)
ovarian cancer
(MONDO_0008170)
 Limited
SIN3B
(HGNC:19354)
esthesioneuroblastoma
(MONDO_0016029)
 Limited
PIM3
(HGNC:19310)
Phelan-McDermid syndrome
(MONDO_0011652)
 Limited
SIN3A
(HGNC:19353)
SIN3A-related intellectual disability syndrome due to a point mutation
(MONDO_0044700)
 Definitive
MDGA1
(HGNC:19267)
schizophrenia
(MONDO_0005090)
 Limited
CHI3L2
(HGNC:1933)
pancreatic ductal adenocarcinoma
(MONDO_0005184)
 Limited
BET1L
(HGNC:19348)
uterine corpus leiomyoma
(MONDO_0007886)
 Moderate
DENND5A
(HGNC:19344)
intellectual disability
(MONDO_0001071)
 Limited
SLC30A7
(HGNC:19306)
Joubert syndrome
(MONDO_0018772)
 Limited
PPP6R2
(HGNC:19253)
Parkinson disease
(MONDO_0005180)
 Limited
SYT9
(HGNC:19265)
maturity-onset diabetes of the young
(MONDO_0018911)
 Disputed
UBE2Q2
(HGNC:19248)
chronic kidney disease
(MONDO_0005300)
 Limited
WSB1
(HGNC:19221)
COVID-19
(MONDO_0100096)
 Limited
SASH1
(HGNC:19182)
dyschromatosis universalis hereditaria
(MONDO_0000736)
 Strong
CMTM7
(HGNC:19178)
Mayer-Rokitansky-Kuster-Hauser syndrome
(MONDO_0017771)
 Limited
TTBK2
(HGNC:19141)
spinocerebellar ataxia type 11
(MONDO_0011464)
 Strong
CHD1
(HGNC:1915)
prostate cancer
(MONDO_0008315)
 Moderate
TTBK1
(HGNC:19140)
childhood-onset schizophrenia
(MONDO_0957430)
 Limited
ADGRF1
(HGNC:18990)
lung cancer
(MONDO_0008903)
 Limited
CORIN
(HGNC:19012)
hypertensive disorder
(MONDO_0005044)
 Moderate
Showing 6141–6160 of 6681