Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
APP
(HGNC:620)
ABeta amyloidosis, dutch type
(MONDO_0015033)
 Moderate
KCNE1
(HGNC:6240)
long QT syndrome 5
(MONDO_0013372)
 Moderate
KCNE1
(HGNC:6240)
atrial fibrillation
(MONDO_0004981)
 Limited
KCNC2
(HGNC:6234)
developmental and epileptic encephalopathy
(MONDO_0100062)
 Strong
KCNC1
(HGNC:6233)
progressive myoclonus epilepsy
(MONDO_0020074)
 Strong
KCNH2
(HGNC:6251)
short QT syndrome
(MONDO_0000453)
 Definitive
KCND3
(HGNC:6239)
spinocerebellar ataxia type 19/22
(MONDO_0011819)
 Strong
KCNE3
(HGNC:6243)
Brugada syndrome
(MONDO_0015263)
 Limited
KCNE5
(HGNC:6241)
Brugada syndrome
(MONDO_0015263)
 Limited
ABCD1
(HGNC:61)
hereditary spastic paraplegia
(MONDO_0019064)
 Moderate
ABCD1
(HGNC:61)
Hirschsprung disease
(MONDO_0018309)
 Limited
JUP
(HGNC:6207)
Naxos disease
(MONDO_0011017)
 Strong
ABCD1
(HGNC:61)
adrenoleukodystrophy
(MONDO_0018544)
 Definitive
JAK2
(HGNC:6192)
familial thrombocytosis
(MONDO_0019111)
 Strong
JAG1
(HGNC:6188)
Alagille syndrome due to a JAG1 point mutation
(MONDO_0016862)
 Definitive
APOL2
(HGNC:619)
schizophrenia
(MONDO_0005090)
 Limited
JAG1
(HGNC:6188)
tetralogy of fallot
(MONDO_0008542)
 Moderate
ABCD1
(HGNC:61)
adrenomyeloneuropathy
(MONDO_0015339)
 Definitive
JAK3
(HGNC:6193)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
(MONDO_0010938)
 Definitive
ITPR1
(HGNC:6180)
aniridia-cerebellar ataxia-intellectual disability syndrome
(MONDO_0008795)
 Strong
Showing 1141–1160 of 6699