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Gene–disease association summaries
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
|
|