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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
SHOC2
(HGNC:15454)
Noonan syndrome
(MONDO_0018997)
 Definitive
PRPF31
(HGNC:15446)
retinitis pigmentosa
(MONDO_0019200)
 Strong
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)
 Definitive
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)
 Definitive
ACTG1
(HGNC:144)
Baraitser-Winter cerebrofrontofacial syndrome
(MONDO_0017579)
 Definitive
ACTG2
(HGNC:145)
megacystis-microcolon-intestinal hypoperistalsis syndrome
(MONDO_0025986)
 Strong
RNF213
(HGNC:14539)
Moyamoya disease
(MONDO_0016820)
 Definitive
CACNA1F
(HGNC:1393)
congenital stationary night blindness
(MONDO_0016293)
 Definitive
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
Showing 5001–5020 of 6681