scleroderma Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A rheumatic disease and collagen disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs. (Human Disease Ontology, DOID_419)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100324
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Genes

3 genes associated with the scleroderma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
PAH phenylalanine hydroxylase
UROD uroporphyrinogen decarboxylase
UROS uroporphyrinogen III synthase