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: rs587776689
rs587776689
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		0.700 GeneticVariation UNIPROT Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles. 15459969 2004
dbSNP: rs587776689
rs587776689
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		0.700 GeneticVariation UNIPROT Coincident PTCH and BRCA1 germline mutations in a patient with nevoid basal cell carcinoma syndrome and familial breast cancer. 11231326 2001
dbSNP: rs587776689
rs587776689
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		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: C0004779
Disease:
Basal Cell Nevus Syndrome 		0.700 GeneticVariation UNIPROT 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: rs587776689
rs587776689
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		0.700 GeneticVariation UNIPROT Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. 8840969 1996