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
CGB5
(HGNC:16452)
habitual spontaneous abortion
(MONDO_0006774)
 Limited
BUD23
(HGNC:16405)
Williams syndrome
(MONDO_0008678)
 Limited
CARD6
(HGNC:16394)
primary myelofibrosis
(MONDO_0009692)
 Disputed
GALNT17
(HGNC:16347)
Williams syndrome
(MONDO_0008678)
 Limited
NSUN5
(HGNC:16385)
Williams syndrome
(MONDO_0008678)
 Limited
GALNT17
(HGNC:16347)
Parkinson disease
(MONDO_0005180)
 Limited
SYAP1
(HGNC:16273)
autism spectrum disorder
(MONDO_0005258)
 Strong
RAD21L1
(HGNC:16271)
azoospermia
(MONDO_0100459)
 Strong
TGM6
(HGNC:16255)
spinocerebellar ataxia type 35
(MONDO_0013485)
 Disputed
XCR1
(HGNC:1625)
COVID-19
(MONDO_0100096)
 Strong
DNAJC5
(HGNC:16235)
neuronal ceroid lipofuscinosis
(MONDO_0016295)
 Strong
TRPC4AP
(HGNC:16181)
Alzheimer disease
(MONDO_0004975)
 Strong
SLC17A9
(HGNC:16192)
porokeratosis
(MONDO_0006602)
 Limited
CRLS1
(HGNC:16148)
Leigh syndrome
(MONDO_0009723)
 Disputed
CABLES2
(HGNC:16143)
colorectal cancer
(MONDO_0005575)
 Moderate
FITM2
(HGNC:16135)
deafness dystonia syndrome
(MONDO_0010578)
 Strong
TBC1D20
(HGNC:16133)
Martsolf syndrome
(MONDO_0023910)
 Strong
BPIFB1
(HGNC:16108)
lung adenocarcinoma
(MONDO_0005061)
 Limited
SFXN4
(HGNC:16088)
mitochondrial disease
(MONDO_0044970)
 Moderate
PGRMC1
(HGNC:16090)
premature menopause
(MONDO_0001119)
 Limited
Showing 6321–6340 of 6681