persistence of hemoglobin f Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobiin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent. (Human Phenotype Ontology, HP_0011904)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011904
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Genes

6 genes associated with the persistence of hemoglobin f phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
HBB hemoglobin, beta
HBG1 hemoglobin, gamma A
HBG2 hemoglobin, gamma G
RPL5 ribosomal protein L5
RPS24 ribosomal protein S24
SBDS Shwachman-Bodian-Diamond syndrome