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
VWA8
(HGNC:29071)
retinitis pigmentosa
(MONDO_0019200)
 Moderate
VWA8
(HGNC:29071)
systemic lupus erythematosus
(MONDO_0007915)
 Limited
CABCOCO1
(HGNC:28678)
cardiovascular disorder
(MONDO_0004995)
 Limited
CABCOCO1
(HGNC:28678)
hypertensive disorder
(MONDO_0005044)
 Disputed
DHCR24
(HGNC:2859)
desmosterolosis
(MONDO_0011217)
 Strong
ZNF577
(HGNC:28673)
breast cancer
(MONDO_0007254)
 Limited
PROCA1
(HGNC:28600)
intellectual disability
(MONDO_0001071)
 Limited
CYBC1
(HGNC:28672)
inflammatory bowel disease
(MONDO_0005265)
 Strong
DNAAF6
(HGNC:28570)
primary ciliary dyskinesia
(MONDO_0016575)
 Limited
SFI1
(HGNC:29064)
uterine corpus leiomyoma
(MONDO_0007886)
 Disputed
DLGAP2
(HGNC:2906)
autism spectrum disorder
(MONDO_0005258)
 Limited
SFI1
(HGNC:29064)
prostate cancer
(MONDO_0008315)
 Disputed
DGKQ
(HGNC:2856)
Parkinson disease
(MONDO_0005180)
 Disputed
IQCK
(HGNC:28556)
Alzheimer disease
(MONDO_0004975)
 Limited
SFI1
(HGNC:29064)
breast cancer
(MONDO_0007254)
 Disputed
SGSM2
(HGNC:29026)
type 2 diabetes mellitus
(MONDO_0005148)
 Limited
DLAT
(HGNC:2896)
pyruvate dehydrogenase deficiency
(MONDO_0019169)
 Strong
GARRE1
(HGNC:29016)
primary myelofibrosis
(MONDO_0009692)
 Disputed
ZNF646
(HGNC:29004)
Parkinson disease
(MONDO_0005180)
 Limited
KIAA0040
(HGNC:28950)
alcohol dependence
(MONDO_0007079)
 Limited
Showing 5661–5680 of 6681