Stats
Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
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)
|
Moderate
|
|
|
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)
|
Moderate
|
|
|
HBA1
(HGNC:4823)
|
hemoglobin H disease
(MONDO_0013512)
|
Moderate
|
|
|
HBA1
(HGNC:4823)
|
alpha thalassemia spectrum
(MONDO_0011399)
|
Definitive
|
|
|
HAND1
(HGNC:4807)
|
congenital heart disease
(MONDO_0005453)
|
Limited
|
|
|
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)
|
Limited
|
|
|
HAAO
(HGNC:4796)
|
congenital vertebral-cardiac-renal anomalies syndrome
(MONDO_0020831)
|
Moderate
|
|
|
H6PD
(HGNC:4795)
|
cortisone reductase deficiency 1
(MONDO_0011503)
|
Strong
|
|