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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Genes

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