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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
HESX1
(HGNC:4877)
|
Kallmann syndrome
(MONDO_0018800)
|
Limited
|
|
|
HDC
(HGNC:4855)
|
Tourette syndrome
(MONDO_0007661)
|
Limited
|
|
|
HIBADH
(HGNC:4907)
|
3-hydroxyisobutyric aciduria
(MONDO_0009371)
|
Moderate
|
|
|
HESX1
(HGNC:4877)
|
septooptic dysplasia
(MONDO_0008428)
|
Moderate
|
|
|
ABCB7
(HGNC:48)
|
X-linked sideroblastic anemia with ataxia
(MONDO_0010524)
|
Strong
|
|
|
HFE
(HGNC:4886)
|
hemochromatosis type 1
(MONDO_0021001)
|
Definitive
|
|
|
HTT
(HGNC:4851)
|
Lopes-Maciel-Rodan syndrome
(MONDO_0054573)
|
Limited
|
|
|
ANGPT1
(HGNC:484)
|
primary congenital glaucoma
(MONDO_0000365)
|
Limited
|
|
|
ANG
(HGNC:483)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Moderate
|
|
|
HCN1
(HGNC:4845)
|
generalized epilepsy with febrile seizures plus
(MONDO_0018214)
|
Moderate
|
|
|
HCFC1
(HGNC:4839)
|
X-linked intellectual disability
(MONDO_0100284)
|
Moderate
|
|
|
HBD
(HGNC:4829)
|
delta-beta-thalassemia
(MONDO_0016489)
|
Limited
|
|
|
HBB
(HGNC:4827)
|
beta thalassemia
(MONDO_0019402)
|
Definitive
|
|
|
HBB
(HGNC:4827)
|
hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
(MONDO_0018749)
|
Limited
|
|
|
HBB
(HGNC:4827)
|
hemoglobin M disease
(MONDO_0018023)
|
Strong
|
|
|
HBB
(HGNC:4827)
|
sickle cell-hemoglobin c disease syndrome
(MONDO_0016669)
|
Limited
|
|
|
HBB
(HGNC:4827)
|
sickle cell-hemoglobin E disease syndrome
(MONDO_0016671)
|
Limited
|
|
|
HBB
(HGNC:4827)
|
hemoglobin E-beta-thalassemia syndrome
(MONDO_0016491)
|
Moderate
|
|
|
HBB
(HGNC:4827)
|
delta-beta-thalassemia
(MONDO_0016489)
|
Moderate
|
|
|
HBB
(HGNC:4827)
|
beta-thalassemia intermedia
(MONDO_0016487)
|
Definitive
|
|