PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776689
rs587776689
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C2751544
Disease:
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome. 9620294 1998
dbSNP: rs587776689
rs587776689
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C2751544
Disease:
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT Human homolog of patched, a candidate gene for the basal cell nevus syndrome. 8658145 1996