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: rs1554698582
rs1554698582
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		G 0.700 GeneticVariation CLINVAR PTCH mutations: distribution and analyses. 16419085 2006
dbSNP: rs1554698582
rs1554698582
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		G 0.700 GeneticVariation CLINVAR Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome. 17021131 2006
dbSNP: rs1554698582
rs1554698582
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		G 0.700 GeneticVariation 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: rs1554698582
rs1554698582
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		G 0.700 GeneticVariation CLINVAR Human homolog of patched, a candidate gene for the basal cell nevus syndrome. 8658145 1996