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
TWIST2
(HGNC:20670)
focal facial dermal dysplasia type III
(MONDO_0009203)
Strong
TWIST2
(HGNC:20670)
Barber-Say syndrome
(MONDO_0008853)
Strong
SCN3B
(HGNC:20665)
Brugada syndrome
(MONDO_0015263)
Limited
RAPGEF6
(HGNC:20655)
malignant pleural mesothelioma
(MONDO_0005112)
Limited
TSPAN1
(HGNC:20657)
prostate cancer
(MONDO_0008315)
Limited
CLEC5A
(HGNC:2054)
Crohn disease
(MONDO_0005011)
Limited
RAPGEF6
(HGNC:20655)
schizophrenia
(MONDO_0005090)
Strong
TAS2R60
(HGNC:20639)
Alzheimer disease
(MONDO_0004975)
Limited
LSM1
(HGNC:20472)
neurodevelopmental disorder
(MONDO_0700092)
Strong
CATSPERB
(HGNC:20500)
colorectal cancer
(MONDO_0005575)
Disputed
LSM7
(HGNC:20470)
leukodystrophy
(MONDO_0019046)
Strong
NME7
(HGNC:20461)
venous thromboembolism
(MONDO_0005399)
Strong
CLDN5
(HGNC:2047)
schizophrenia
(MONDO_0005090)
Limited
RNF144A
(HGNC:20457)
schizophrenia
(MONDO_0005090)
Strong
CLDN18
(HGNC:2039)
colorectal cancer
(MONDO_0005575)
Limited
TREML1
(HGNC:20434)
Alzheimer disease
(MONDO_0004975)
Limited
MBIP
(HGNC:20427)
thyroid gland papillary carcinoma
(MONDO_0005075)
Limited
ZIC4
(HGNC:20393)
Dandy-Walker syndrome
(MONDO_0009072)
Limited
SPG21
(HGNC:20373)
mast syndrome
(MONDO_0009568)
Strong
PILRA
(HGNC:20396)
Alzheimer disease
(MONDO_0004975)
Limited
Showing 6061–6080 of 6681