abnormality of the heme biosynthetic pathway Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes. (Human Phenotype Ontology, HP_0010472)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010472
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17 genes associated with the abnormality of the heme biosynthetic pathway phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALAD aminolevulinate dehydratase
ALAS2 5'-aminolevulinate synthase 2
ATRX alpha thalassemia/mental retardation syndrome X-linked
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)
EPOR erythropoietin receptor
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
GATA1 GATA binding protein 1 (globin transcription factor 1)
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HBB hemoglobin, beta
HBD hemoglobin, delta
HBG1 hemoglobin, gamma A
HBG2 hemoglobin, gamma G
HMBS hydroxymethylbilane synthase
KLF1 Kruppel-like factor 1 (erythroid)
MPL MPL proto-oncogene, thrombopoietin receptor
UROS uroporphyrinogen III synthase