|
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
|
|