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: rs878853856
rs878853856
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		0.800 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175 2015
dbSNP: rs878853856
rs878853856
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Gorlin syndrome. 21304560 2011
dbSNP: rs878853856
rs878853856
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		0.800 GeneticVariation UNIPROT Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles. 15459969 2004
dbSNP: rs878853856
rs878853856
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628 2004
dbSNP: rs878853856
rs878853856
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		0.800 GeneticVariation UNIPROT Coincident PTCH and BRCA1 germline mutations in a patient with nevoid basal cell carcinoma syndrome and familial breast cancer. 11231326 2001
dbSNP: rs878853856
rs878853856
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		0.800 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: rs878853856
rs878853856
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		0.800 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: rs878853856
rs878853856
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		0.800 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
dbSNP: rs878853856
rs878853856
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		G 0.800 GeneticVariation CLINVAR
dbSNP: rs1064793921
rs1064793921
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		C 0.700 CausalMutation CLINVAR Manifestations of Gorlin-Goltz syndrome. 24814739 2014
dbSNP: rs1564035949
rs1564035949
Entrez Id: 5727;100507346
Gene Symbol: PTCH1;LOC100507346
PTCH1;LOC100507346
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		G 0.700 CausalMutation CLINVAR Gorlin syndrome (nevoid basal cell carcinoma syndrome): update and literature review. 25131638 2014
dbSNP: rs1060502268
rs1060502268
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		T 0.700 CausalMutation CLINVAR PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review. 24204797 2013
dbSNP: rs1564051237
rs1564051237
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		A 0.700 CausalMutation CLINVAR PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review. 24204797 2013
dbSNP: rs1564055606
rs1564055606
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		C 0.700 CausalMutation CLINVAR PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review. 24204797 2013
dbSNP: rs1564055612
rs1564055612
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		T 0.700 CausalMutation CLINVAR PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review. 24204797 2013
dbSNP: rs1554695039
rs1554695039
Entrez Id: 5727;100507346
Gene Symbol: PTCH1;LOC100507346
PTCH1;LOC100507346
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		A 0.700 CausalMutation CLINVAR Novel PTCH1 mutations in patients with keratocystic odontogenic tumors screened for nevoid basal cell carcinoma (NBCC) syndrome. 22952776 2012
dbSNP: rs1060502268
rs1060502268
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		T 0.700 CausalMutation CLINVAR Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. 16301862 2006
dbSNP: rs1060502277
rs1060502277
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		T 0.700 GeneticVariation CLINVAR Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. 16301862 2006
dbSNP: rs1060502277
rs1060502277
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		T 0.700 GeneticVariation CLINVAR PTCH mutations: distribution and analyses. 16419085 2006
dbSNP: rs1060502292
rs1060502292
Entrez Id: 5727;100507346
Gene Symbol: PTCH1;LOC100507346
PTCH1;LOC100507346
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		T 0.700 CausalMutation CLINVAR PTCH mutations: distribution and analyses. 16419085 2006
dbSNP: rs1060502292
rs1060502292
Entrez Id: 5727;100507346
Gene Symbol: PTCH1;LOC100507346
PTCH1;LOC100507346
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		T 0.700 CausalMutation CLINVAR Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. 16301862 2006
dbSNP: rs1064793921
rs1064793921
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: rs1064793921
rs1064793921
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: rs1131690986
rs1131690986
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		A 0.700 CausalMutation CLINVAR [Clinical and genetic study in 22 patients with basal cell nevus syndrome]. 16508594 2006
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