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
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
Showing 1321–1340 of 6699