sideroblastic anemia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). (Human Disease Ontology, DOID_8955)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001924
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Genes

6 genes associated with the sideroblastic anemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALAS2 5'-aminolevulinate synthase 2
ISCU iron-sulfur cluster assembly enzyme
PUS1 pseudouridylate synthase 1
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
WFS1 Wolfram syndrome 1 (wolframin)
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial