fragile skin Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Skin that splits easily with minimal injury. (Human Phenotype Ontology, HP_0001030)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001030
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Genes

15 genes associated with the fragile skin phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
COL1A1 collagen, type I, alpha 1
COL3A1 collagen, type III, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COL7A1 collagen, type VII, alpha 1
EXPH5 exophilin 5
FERMT1 fermitin family member 1
ITGA6 integrin, alpha 6
ITGB4 integrin, beta 4
PLEC plectin
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
UROD uroporphyrinogen decarboxylase