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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
CASQ2
(HGNC:1513)
|
catecholaminergic polymorphic ventricular tachycardia
(MONDO_0017990)
|
Definitive
|
|
|
RUNX1T1
(HGNC:1535)
|
acute myeloid leukemia
(MONDO_0018874)
|
Definitive
|
|
|
CBFB
(HGNC:1539)
|
acute myeloid leukemia
(MONDO_0018874)
|
Strong
|
|
|
CAPN3
(HGNC:1480)
|
limb-girdle muscular dystrophy
(MONDO_0016971)
|
Definitive
|
|
|
ZEB2
(HGNC:14881)
|
Mowat-Wilson syndrome
(MONDO_0009341)
|
Definitive
|
|
|
CAPN3
(HGNC:1480)
|
autosomal recessive limb-girdle muscular dystrophy type 2A
(MONDO_0009675)
|
Definitive
|
|
|
ABCA12
(HGNC:14637)
|
congenital non-bullous ichthyosiform erythroderma
(MONDO_0019306)
|
Strong
|
|
|
ABCA12
(HGNC:14637)
|
lamellar ichthyosis
(MONDO_0017778)
|
Strong
|
|
|
ACTG1
(HGNC:144)
|
Baraitser-Winter cerebrofrontofacial syndrome
(MONDO_0017579)
|
Strong
|
|
|
ACTG2
(HGNC:145)
|
megacystis-microcolon-intestinal hypoperistalsis syndrome
(MONDO_0025986)
|
Strong
|
|
|
RNF213
(HGNC:14539)
|
Moyamoya disease
(MONDO_0016820)
|
Strong
|
|
|
CACNA1F
(HGNC:1393)
|
congenital stationary night blindness
(MONDO_0016293)
|
Strong
|
|
|
NSD1
(HGNC:14234)
|
Sotos syndrome
(MONDO_0019349)
|
Definitive
|
|
|
ABCA12
(HGNC:14637)
|
autosomal recessive congenital ichthyosis 4B
(MONDO_0009443)
|
Definitive
|
|
|
ABCA12
(HGNC:14637)
|
autosomal recessive congenital ichthyosis
(MONDO_0017265)
|
Definitive
|
|
|
PINK1
(HGNC:14581)
|
Parkinson disease
(MONDO_0005180)
|
Definitive
|
|
|
EDARADD
(HGNC:14341)
|
hypohidrotic ectodermal dysplasia
(MONDO_0016535)
|
Moderate
|
|
|
NPC2
(HGNC:14537)
|
Niemann-Pick disease type C
(MONDO_0018982)
|
Definitive
|
|
|
SHANK3
(HGNC:14294)
|
autism spectrum disorder
(MONDO_0005258)
|
Definitive
|
|
|
CALM1
(HGNC:1442)
|
long QT syndrome
(MONDO_0002442)
|
Strong
|
|