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: rs863224443
rs863224443
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		C 0.700 CausalMutation CLINVAR Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. 16301862 2006
dbSNP: rs863224443
rs863224443
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		C 0.700 CausalMutation CLINVAR PTCH mutations: distribution and analyses. 16419085 2006
dbSNP: rs863224443
rs863224443
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		C 0.700 CausalMutation CLINVAR DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain. 16088933 2005