Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 GeneticVariation LHGDN A new mutation of PTCH gene in a Chinese family with nevoid basal cell carcinoma syndrome. 18272036

2008
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 GeneticVariation LHGDN Nonmonoclonal PTCH gene mutations in psoralen plus UVA-associated basal cell carcinomas. 18059486

2008
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 GeneticVariation LHGDN PTCH1 and SMO gene alterations in keratocystic odontogenic tumors. 18502968

2008
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 GeneticVariation LHGDN A novel PTCH1 mutation in a patient of nevoid basal cell carcinoma syndrome. 18068337

2008
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 GeneticVariation LHGDN Coincident two mutations and one single nucleotide polymorphism of the PTCH1 gene in a family with naevoid basal cell carcinoma syndrome. 19002359

2008
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 GeneticVariation LHGDN A novel germ-line mutation of PTCH1 gene in a Japanese family of nevoid basal cell carcinoma syndrome: are the palmoplantar pits associated with true basal cell carcinoma? 18436435

2008
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 GeneticVariation LHGDN PTCH germline mutations in Chinese nevoid basal cell carcinoma syndrome patients. 18302678

2008
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 GeneticVariation LHGDN Identification of a novel mutation in the PTCH gene in a Korean family with naevoid basal cell carcinoma syndrome. 16780502

2007
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 GeneticVariation LHGDN PTCH mutations: distribution and analyses. 16419085

2006
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 GeneticVariation LHGDN Germline mutations of the PTCH gene in families with odontogenic keratocysts and nevoid basal cell carcinoma syndrome. 16675912

2006
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 GeneticVariation LHGDN MC1R and PTCH gene polymorphism in French patients with basal cell carcinomas. 16645598

2006
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 Biomarker LHGDN Detecting tissue-specific alternative splicing and disease-associated aberrant splicing of the PTCH gene with exon junction microarrays. 16203740

2005
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 GeneticVariation LHGDN Constitutive activation of the shh-ptc1 pathway by a patched1 mutation identified in BCC. 15592520

2005
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 GeneticVariation LHGDN DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain. 16088933

2005
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 GeneticVariation LHGDN Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles. 15459969

2004
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 GeneticVariation LHGDN Mutations of the p53 and PTCH gene in basal cell carcinomas: UV mutation signature and strand bias. 12007715

2002
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 Biomarker MGD Ultraviolet and ionizing radiation enhance the growth of BCCs and trichoblastomas in patched heterozygous knockout mice. 10545995

1999
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 CausalMutation CGI