abnormal hemoglobin Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes. (Human Phenotype Ontology, HP_0011902)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011902
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14 genes associated with the abnormal hemoglobin phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ATRX alpha thalassemia/mental retardation syndrome X-linked
CD151 CD151 molecule (Raph blood group)
CYB5A cytochrome b5 type A (microsomal)
CYB5R3 cytochrome b5 reductase 3
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HBB hemoglobin, beta
HBG1 hemoglobin, gamma A
HBG2 hemoglobin, gamma G
HBZ hemoglobin, zeta
LCRB locus control region, beta
RPL5 ribosomal protein L5
RPS24 ribosomal protein S24
SBDS Shwachman-Bodian-Diamond syndrome