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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
KCNJ16
(HGNC:6262)
|
hypokalemic tubulopathy and deafness
(MONDO_0859167)
|
Moderate
|
|
|
KCNJ13
(HGNC:6259)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Moderate
|
|
|
KCNJ13
(HGNC:6259)
|
snowflake vitreoretinal degeneration
(MONDO_0008663)
|
Moderate
|
|
|
KCNJ11
(HGNC:6257)
|
transient neonatal diabetes mellitus
(MONDO_0020525)
|
Definitive
|
|
|
KCNJ11
(HGNC:6257)
|
permanent neonatal diabetes mellitus
(MONDO_0100164)
|
Definitive
|
|
|
KCNJ11
(HGNC:6257)
|
intermediate DEND syndrome
(MONDO_0020569)
|
Strong
|
|
|
KCNJ11
(HGNC:6257)
|
DEND syndrome
(MONDO_0019207)
|
Strong
|
|
|
KCNJ11
(HGNC:6257)
|
maturity-onset diabetes of the young
(MONDO_0018911)
|
Strong
|
|
|
KCNJ11
(HGNC:6257)
|
monogenic diabetes
(MONDO_0015967)
|
Strong
|
|
|
KCNJ11
(HGNC:6257)
|
maturity-onset diabetes of the young type 13
(MONDO_0014589)
|
Strong
|
|
|
KCNJ10
(HGNC:6256)
|
Pendred syndrome
(MONDO_0010134)
|
Disputed
|
|
|
KCNC1
(HGNC:6233)
|
progressive myoclonic epilepsy type 7
(MONDO_0014521)
|
Strong
|
|
|
KCNJ10
(HGNC:6256)
|
EAST syndrome
(MONDO_0013005)
|
Definitive
|
|
|
KCNE2
(HGNC:6242)
|
long QT syndrome
(MONDO_0002442)
|
Disputed
|
|
|
KCNH2
(HGNC:6251)
|
Brugada syndrome
(MONDO_0015263)
|
Limited
|
|
|
KCNH2
(HGNC:6251)
|
long QT syndrome
(MONDO_0002442)
|
Definitive
|
|
|
KCNH2
(HGNC:6251)
|
long QT syndrome 2
(MONDO_0013367)
|
Definitive
|
|
|
KCNA2
(HGNC:6220)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Strong
|
|
|
KCNA1
(HGNC:6218)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Moderate
|
|
|
APP
(HGNC:620)
|
cerebral amyloid angiopathy, APP-related
(MONDO_0011583)
|
Limited
|
|