HBA2, hemoglobin subunit alpha 2, 3040

N. diseases: 182; N. variants: 34
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.800 Biomarker disease GENOMICS_ENGLAND Separation and study of corrinoid cobalt-ligand isomers by high-performance liquid chromatography. 2050764 1991
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.800 Biomarker disease GENOMICS_ENGLAND Fetal Anemia and Hydrops Fetalis Associated with Homozygous Hb Constant Spring (HBA2: c.427T > C). 26757782 2016
CUI: C0700299
Disease: Heinz Body Anemias
Heinz Body Anemias 		0.600 Biomarker disease GENOMICS_ENGLAND Separation and study of corrinoid cobalt-ligand isomers by high-performance liquid chromatography. 2050764 1991
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease 		0.600 Biomarker disease GENOMICS_ENGLAND Separation and study of corrinoid cobalt-ligand isomers by high-performance liquid chromatography. 2050764 1991
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease 		0.600 Biomarker disease GENOMICS_ENGLAND Fetal Anemia and Hydrops Fetalis Associated with Homozygous Hb Constant Spring (HBA2: c.427T > C). 26757782 2016
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C0271901
Disease: Microcytic hypochromic anemia (disorder)
Microcytic hypochromic anemia (disorder) 		0.460 Biomarker disease GENOMICS_ENGLAND Separation and study of corrinoid cobalt-ligand isomers by high-performance liquid chromatography. 2050764 1991
CUI: C3841459
Disease: Hb H disease
Hb H disease 		0.400 Biomarker disease GENOMICS_ENGLAND Fetal Anemia and Hydrops Fetalis Associated with Homozygous Hb Constant Spring (HBA2: c.427T > C). 26757782 2016
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		0.300 Biomarker disease GENOMICS_ENGLAND Fetal Anemia and Hydrops Fetalis Associated with Homozygous Hb Constant Spring (HBA2: c.427T > C). 26757782 2016
CUI: C1527405
Disease: Erythrocytosis
Erythrocytosis 		0.300 Biomarker phenotype GENOMICS_ENGLAND Hemoglobin variants: biochemical properties and clinical correlates. 23388674 2013
CUI: C1527405
Disease: Erythrocytosis
Erythrocytosis 		0.300 Biomarker phenotype GENOMICS_ENGLAND Separation and study of corrinoid cobalt-ligand isomers by high-performance liquid chromatography. 2050764 1991
CUI: C3278365
Disease: HEMOGLOBIN H HYDROPS FETALIS SYNDROME
HEMOGLOBIN H HYDROPS FETALIS SYNDROME 		0.300 Biomarker disease GENOMICS_ENGLAND Fetal Anemia and Hydrops Fetalis Associated with Homozygous Hb Constant Spring (HBA2: c.427T > C). 26757782 2016
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.800 GermlineCausalMutation disease ORPHANET
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease 		0.600 GermlineCausalMutation disease ORPHANET
CUI: C0795917
Disease: Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type 		0.310 ChromosomalRearrangement disease ORPHANET
CUI: C0475813
Disease: Alpha-thalassemia/mental retardation syndrome (301040) is an allelic disorder
Alpha-thalassemia/mental retardation syndrome (301040) is an allelic disorder 		0.300 ChromosomalRearrangement disease ORPHANET
CUI: C1260396
Disease: Alpha thalassemia intermedia
Alpha thalassemia intermedia 		0.300 GermlineCausalMutation disease ORPHANET
CUI: C3665425
Disease: Hemoglobin M Disease
Hemoglobin M Disease 		0.300 GermlineCausalMutation disease ORPHANET Concise review: methemoglobinemia. 8416301 1993
CUI: C3665425
Disease: Hemoglobin M Disease
Hemoglobin M Disease 		0.300 GermlineCausalMutation disease ORPHANET De novo alpha 2 hemoglobin gene (HBA2) mutation in a child with hemoglobin M Iwate and symptomatic methemoglobinemia since birth. 25031065 2014
CUI: C0700299
Disease: Heinz Body Anemias
Heinz Body Anemias 		0.600 Biomarker disease HPO
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.500 Biomarker disease HPO
CUI: C0271901
Disease: Microcytic hypochromic anemia (disorder)
Microcytic hypochromic anemia (disorder) 		0.460 Biomarker disease HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.200 Biomarker disease HPO
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		0.130 Biomarker disease HPO
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.120 Biomarker disease HPO