Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854310
Disease: Hypotrichosis simplex
Hypotrichosis simplex
0.510 GeneticVariation disease BEFREE We and others have previously reported mutations in the P2RY5 gene and the LIPH gene as being causal factors of autosomal recessive hypotrichosis simplex with or without woolly hair. 19529952 2009
CUI: C1854310
Disease: Hypotrichosis simplex
Hypotrichosis simplex
0.510 GermlineCausalMutation disease ORPHANET Recently mutations in a G protein-coupled receptor gene, P2RY5, located at LAH3 locus, have been reported in several families with autosomal recessive hypotrichosis simplex and woolly hair. 18461368 2008
CUI: C1854310
Disease: Hypotrichosis simplex
Hypotrichosis simplex
0.510 Biomarker disease CTD_human G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. 18297070 2008