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: rs1131690986
rs1131690986
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		A 0.700 CausalMutation CLINVAR [Clinical and genetic study in 22 patients with basal cell nevus syndrome]. 16508594 2006
dbSNP: rs1131690986
rs1131690986
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
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
dbSNP: rs1131690986
rs1131690986
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		A 0.700 CausalMutation CLINVAR De novo mutations of the Patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype. 9415689 1997