HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease CLINVAR
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.700 GeneticVariation disease CLINVAR
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.700 CausalMutation disease CLINVAR
CUI: C1858990
Disease: Beta Thalassemia, Dominant Inclusion Body Type
Beta Thalassemia, Dominant Inclusion Body Type 		0.700 CausalMutation disease CLINVAR
CUI: C1858990
Disease: Beta Thalassemia, Dominant Inclusion Body Type
Beta Thalassemia, Dominant Inclusion Body Type 		0.700 Biomarker disease CTD_human
CUI: C1858990
Disease: Beta Thalassemia, Dominant Inclusion Body Type
Beta Thalassemia, Dominant Inclusion Body Type 		0.700 GeneticVariation disease CLINVAR
CUI: C0700299
Disease: Heinz Body Anemias
Heinz Body Anemias 		0.600 Biomarker disease CTD_human
CUI: C0700299
Disease: Heinz Body Anemias
Heinz Body Anemias 		0.600 Biomarker disease HPO
CUI: C0700299
Disease: Heinz Body Anemias
Heinz Body Anemias 		0.600 GeneticVariation disease CLINVAR
CUI: C0700299
Disease: Heinz Body Anemias
Heinz Body Anemias 		0.600 CausalMutation disease CLINVAR
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.500 CausalMutation disease CLINVAR
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.500 GeneticVariation disease CLINVAR
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.500 Biomarker disease CTD_human
CUI: C0024530
Disease: Malaria
Malaria 		0.500 Biomarker disease CTD_human
CUI: C0472767
Disease: Beta thalassemia intermedia
Beta thalassemia intermedia 		0.500 GeneticVariation disease CLINVAR
CUI: C0472767
Disease: Beta thalassemia intermedia
Beta thalassemia intermedia 		0.500 CausalMutation disease CLINVAR
CUI: C0002871
Disease: Anemia
Anemia 		0.400 Biomarker disease HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.400 CausalMutation disease CLINVAR
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		0.400 Biomarker phenotype HPO
CUI: C0472777
Disease: Hemoglobin E/beta thalassemia disease
Hemoglobin E/beta thalassemia disease 		0.400 CausalMutation disease CLINVAR
CUI: C1527405
Disease: Erythrocytosis
Erythrocytosis 		0.400 CausalMutation phenotype CLINVAR
CUI: C1841621
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 		0.400 CausalMutation phenotype CLINVAR
CUI: C1841621
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 		0.400 GeneticVariation phenotype CLINVAR
CUI: C3889261
Disease: Other License Status
Other License Status 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0271980
Disease: beta^0^ Thalassemia
beta^0^ Thalassemia 		0.200 CausalMutation disease CLINVAR