PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
Disease: Basal Cell Nevus Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554695039
rs1554695039
Entrez Id: 5727;100507346
Gene Symbol: PTCH1;LOC100507346
PTCH1;LOC100507346
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		A 0.700 CausalMutation CLINVAR Novel PTCH1 mutations in patients with keratocystic odontogenic tumors screened for nevoid basal cell carcinoma (NBCC) syndrome. 22952776 2012
dbSNP: rs1554695039
rs1554695039
Entrez Id: 5727;100507346
Gene Symbol: PTCH1;LOC100507346
PTCH1;LOC100507346
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		A 0.700 CausalMutation CLINVAR Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. 8981943 1997