PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
Disease: Skin Neoplasms ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms 		0.320 GeneticVariation group BEFREE To investigate whether azathioprine-associated mutagenesis contributes to the high incidence of skin tumours in organ transplant recipients (OTRs), we analysed PTCH gene mutations in 60 basal cell carcinomas (BCC); 39 from OTRs receiving azathioprine and 21 from individuals never exposed to azathioprine. 18854826 2008
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms 		0.320 GeneticVariation group BEFREE Interestingly, truncation of the Ptc1 CTD did not result in skin tumors. 17631878 2007
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms 		0.320 Biomarker group CTD_human Missense mutations in SMOH in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system. 9581815 1998