PTCH2, patched 2, 8643

N. diseases: 114; N. variants: 4
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: rs56126236
rs56126236
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		C 0.700 GeneticVariation CLINVAR Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome. 23479190 2013
dbSNP: rs56126236
rs56126236
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		C 0.700 CausalMutation CLINVAR