multiple enchondromatosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0005701
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Genes

8 genes associated with the multiple enchondromatosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACP5 acid phosphatase 5, tartrate resistant
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RMRP RNA component of mitochondrial RNA processing endoribonuclease
TCOF1 Treacher Collins-Franceschetti syndrome 1