Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
Back to Open Access Summaries

Gene–Disease Browser

Need updated, customized, evidence‑backed summaries? Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
Contact us
Gene Disease Score Actions
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)
 Strong
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)
 Strong
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
SLC39A4
(HGNC:17129)
acrodermatitis enteropathica
(MONDO_0008713)
 Definitive
RAB3GAP1
(HGNC:17063)
Warburg micro syndrome
(MONDO_0016649)
 Definitive
Showing 4961–4980 of 6699