PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0457521
Disease: Unicystic ameloblastoma
Unicystic ameloblastoma
0.010 GeneticVariation disease BEFREE Unicystic ameloblastoma associated with the novel K729M PTCH1 mutation in a patient with nevoid basal cell carcinoma (Gorlin) syndrome. 22559979 2012