Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 CausalMutation CLINVAR Manifestations of Gorlin-Goltz syndrome. 24814739

2014
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 CausalMutation CLINVAR Gorlin syndrome (nevoid basal cell carcinoma syndrome): update and literature review. 25131638

2014
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 CausalMutation CLINVAR PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review. 24204797

2013
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 CausalMutation CLINVAR Novel PTCH1 mutations in patients with keratocystic odontogenic tumors screened for nevoid basal cell carcinoma (NBCC) syndrome. 22952776

2012
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 CausalMutation CLINVAR [Clinical and genetic study in 22 patients with basal cell nevus syndrome]. 16508594

2006
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 GeneticVariation CLINVAR The NBCCS cases and each class of tumor analyzed revealed a different distribution of the mutations in the various PTCH domains. 16419085

2006
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 GeneticVariation CLINVAR Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome. 17021131

2006
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 CausalMutation CLINVAR Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. 16301862

2006
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 GeneticVariation CLINVAR Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. 16301862

2006
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 CausalMutation CLINVAR The NBCCS cases and each class of tumor analyzed revealed a different distribution of the mutations in the various PTCH domains. 16419085

2006
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 CausalMutation CLINVAR We used denaturing high performance liquid chromatography (DHPLC) to screen for PTCH mutations in 28 NBCCS cases, most of whom had been previously evaluated by single stranded conformation polymorphism analysis but found to be negative. 16088933

2005
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 CausalMutation CLINVAR Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients. 12655573

2003
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 CausalMutation CLINVAR Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome. 11457640

2001
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 CausalMutation CLINVAR Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome. 9620294

1998
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 CausalMutation CLINVAR In order to examine the phenotypic variability in NBCCS and to highlight functionally important domains of the PTCH protein, we have now screened 71 unrelated NBCCS individuals for mutations in the PTCH exons. 8981943

1997
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 CausalMutation CLINVAR De novo mutations of the Patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype. 9415689

1997
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 GeneticVariation CLINVAR In order to examine the phenotypic variability in NBCCS and to highlight functionally important domains of the PTCH protein, we have now screened 71 unrelated NBCCS individuals for mutations in the PTCH exons. 8981943

1997
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 GeneticVariation CLINVAR Heritable mutations in BCNS patients and a somatic mutation in a sporadic BCC were identified in a human homolog of the Drosophila patched (ptc) gene. 8658145

1996
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 CausalMutation CLINVAR Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. 8681379

1996