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Over 2,000 gene–disease validation summaries are now available—no login required!

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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
HBB
(HGNC:4827)
delta-beta-thalassemia
(MONDO_0016489)
 Moderate
HBB
(HGNC:4827)
beta-thalassemia intermedia
(MONDO_0016487)
 Strong
HBB
(HGNC:4827)
beta-thalassemia major
(MONDO_0016486)
 Definitive
HBB
(HGNC:4827)
sickle cell anemia
(MONDO_0011382)
 Definitive
HBB
(HGNC:4827)
hemoglobin E disease
(MONDO_0016243)
 Moderate
HBB
(HGNC:4827)
dominant beta-thalassemia
(MONDO_0011381)
 Moderate
HBA2
(HGNC:4824)
Hb Bart's hydrops fetalis
(MONDO_0015579)
 Strong
HBA2
(HGNC:4824)
hemoglobin M disease
(MONDO_0018023)
 Limited
HBA2
(HGNC:4824)
hemoglobin H disease
(MONDO_0013512)
 Strong
HBA2
(HGNC:4824)
alpha thalassemia spectrum
(MONDO_0011399)
 Definitive
HBA1
(HGNC:4823)
Hb Bart's hydrops fetalis
(MONDO_0015579)
 Strong
HBA1
(HGNC:4823)
hemoglobin H disease
(MONDO_0013512)
 Definitive
HBA1
(HGNC:4823)
alpha thalassemia spectrum
(MONDO_0011399)
 Definitive
HAND1
(HGNC:4807)
congenital heart disease
(MONDO_0005453)
 Moderate
HAL
(HGNC:4806)
histidinemia
(MONDO_0009345)
 Moderate
HADHA
(HGNC:4801)
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
(MONDO_0012173)
 Strong
HSD17B10
(HGNC:4800)
HSD10 mitochondrial disease
(MONDO_0010327)
 Strong
ABCB6
(HGNC:47)
familial pseudohyperkalemia
(MONDO_0012204)
 Strong
ABCB6
(HGNC:47)
dyschromatosis universalis hereditaria
(MONDO_0000736)
 Strong
HADH
(HGNC:4799)
3-hydroxyacyl-CoA dehydrogenase deficiency
(MONDO_0017715)
 Moderate
Showing 1341–1360 of 6681