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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
HLA-DRB1
(HGNC:4948)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Strong
|
|
|
ANK3
(HGNC:494)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
ANK2
(HGNC:493)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Moderate
|
|
|
ANK2
(HGNC:493)
|
Brugada syndrome
(MONDO_0015263)
|
Limited
|
|
|
ANK2
(HGNC:493)
|
catecholaminergic polymorphic ventricular tachycardia
(MONDO_0017990)
|
Disputed
|
|
|
ANK2
(HGNC:493)
|
cardiac arrhythmia, ankyrin-B-related
(MONDO_0010958)
|
Moderate
|
|
|
ANK1
(HGNC:492)
|
hereditary spherocytosis type 1
(MONDO_0008447)
|
Strong
|
|
|
ANK2
(HGNC:493)
|
long QT syndrome
(MONDO_0002442)
|
Limited
|
|
|
SLC39A7
(HGNC:4927)
|
agammaglobulinemia
(MONDO_0015977)
|
Strong
|
|
|
HK1
(HGNC:4922)
|
neurodevelopmental disorder with visual defects and brain anomalies
(MONDO_0032807)
|
Strong
|
|
|
HK1
(HGNC:4922)
|
Charcot-Marie-Tooth disease type 4G
(MONDO_0011534)
|
Moderate
|
|
|
ANGPTL3
(HGNC:491)
|
familial hypobetalipoproteinemia 2
(MONDO_0011505)
|
Strong
|
|
|
HIRA
(HGNC:4916)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Limited
|
|
|
HINT1
(HGNC:4912)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Strong
|
|
|
HINT1
(HGNC:4912)
|
Gamstorp-Wohlfart syndrome
(MONDO_0007646)
|
Definitive
|
|
|
HFE
(HGNC:4886)
|
cystic fibrosis
(MONDO_0009061)
|
Limited
|
|
|
CFH
(HGNC:4883)
|
basal laminar drusen
(MONDO_0007472)
|
Strong
|
|
|
CFH
(HGNC:4883)
|
dense deposit disease
(MONDO_0019736)
|
Moderate
|
|
|
HIBCH
(HGNC:4908)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
HESX1
(HGNC:4877)
|
pituitary stalk interruption syndrome
(MONDO_0019828)
|
Limited
|
|