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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
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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
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