Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
CARD6
(HGNC:16394)
primary myelofibrosis
(MONDO_0009692)
 Limited
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)
 Limited
RAD21L1
(HGNC:16271)
azoospermia
(MONDO_0100459)
 Limited
TGM6
(HGNC:16255)
spinocerebellar ataxia type 35
(MONDO_0013485)
 Limited
XCR1
(HGNC:1625)
COVID-19
(MONDO_0100096)
 Limited
DNAJC5
(HGNC:16235)
neuronal ceroid lipofuscinosis
(MONDO_0016295)
 Strong
TRPC4AP
(HGNC:16181)
Alzheimer disease
(MONDO_0004975)
 Limited
SLC17A9
(HGNC:16192)
porokeratosis
(MONDO_0006602)
 Disputed
CRLS1
(HGNC:16148)
Leigh syndrome
(MONDO_0009723)
 Refuted
CABLES2
(HGNC:16143)
colorectal cancer
(MONDO_0005575)
 Limited
FITM2
(HGNC:16135)
deafness dystonia syndrome
(MONDO_0010578)
 Moderate
TBC1D20
(HGNC:16133)
Martsolf syndrome
(MONDO_0023910)
 Moderate
BPIFB1
(HGNC:16108)
lung adenocarcinoma
(MONDO_0005061)
 Limited
SFXN4
(HGNC:16088)
mitochondrial disease
(MONDO_0044970)
 Moderate
PGRMC1
(HGNC:16090)
premature menopause
(MONDO_0001119)
 Limited
SFXN4
(HGNC:16088)
macrocytic anemia
(MONDO_0002281)
 Limited
STMN4
(HGNC:16078)
autism spectrum disorder
(MONDO_0005258)
 Limited
Showing 6341–6360 of 6699