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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
NAGS
(HGNC:17996)
hyperammonemia due to N-acetylglutamate synthase deficiency
(MONDO_0009377)
 Definitive
NAGS
(HGNC:17996)
urea cycle disorder
(MONDO_0004739)
 Definitive
SLC22A12
(HGNC:17989)
hypouricemia, renal 1
(MONDO_0020728)
 Definitive
TRPM6
(HGNC:17995)
intestinal hypomagnesemia 1
(MONDO_0011176)
 Definitive
IRAK4
(HGNC:17967)
immunodeficiency 67
(MONDO_0011888)
 Strong
TREM2
(HGNC:17761)
frontotemporal dementia
(MONDO_0017276)
 Moderate
KAT6B
(HGNC:17582)
genitopatellar syndrome
(MONDO_0011640)
 Definitive
EXOSC3
(HGNC:17944)
pontocerebellar hypoplasia type 1B
(MONDO_0013853)
 Strong
CDH3
(HGNC:1762)
congenital hypotrichosis with juvenile macular dystrophy
(MONDO_0011107)
 Definitive
CDKN1C
(HGNC:1786)
Beckwith-Wiedemann syndrome
(MONDO_0007534)
 Definitive
CDKN1C
(HGNC:1786)
IMAGe syndrome
(MONDO_0013873)
 Definitive
PORCN
(HGNC:17652)
focal dermal hypoplasia
(MONDO_0010592)
 Definitive
ACVRL1
(HGNC:175)
hereditary hemorrhagic telangiectasia
(MONDO_0019180)
 Definitive
TREM2
(HGNC:17761)
polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
(MONDO_0009092)
 Definitive
TREM2
(HGNC:17761)
Alzheimer disease
(MONDO_0004975)
 Strong
ACVRL1
(HGNC:175)
pulmonary arterial hypertension
(MONDO_0015924)
 Definitive
KAT6B
(HGNC:17582)
blepharophimosis - intellectual disability syndrome, SBBYS type
(MONDO_0011365)
 Definitive
NGLY1
(HGNC:17646)
congenital disorder of deglycosylation
(MONDO_0031376)
 Definitive
ACVR1
(HGNC:171)
fibrodysplasia ossificans progressiva
(MONDO_0007606)
 Definitive
ALPK3
(HGNC:17574)
hypertrophic cardiomyopathy
(MONDO_0005045)
 Strong
Showing 4941–4960 of 6681