PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
Disease: Skin Diseases, Genetic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037277
Disease: Skin Diseases, Genetic
Skin Diseases, Genetic 		0.010 GeneticVariation group BEFREE Basal cell nevus syndrome (BCNS), or Gorlin syndrome, is a rare, autosomal-dominant inherited genodermatosis linked to a mutation in the PTCH<sub>1</sub> (patched 1) gene and is characterized by a broad range of anomalies. 28686751 2017