PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
Disease: Basal cell carcinoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 GeneticVariation disease LHGDN A new mutation of PTCH gene in a Chinese family with nevoid basal cell carcinoma syndrome. 18272036 2008
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 GeneticVariation disease LHGDN Nonmonoclonal PTCH gene mutations in psoralen plus UVA-associated basal cell carcinomas. 18059486 2008
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 GeneticVariation disease LHGDN PTCH1 and SMO gene alterations in keratocystic odontogenic tumors. 18502968 2008
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 GeneticVariation disease LHGDN A novel PTCH1 mutation in a patient of nevoid basal cell carcinoma syndrome. 18068337 2008
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 GeneticVariation disease LHGDN Coincident two mutations and one single nucleotide polymorphism of the PTCH1 gene in a family with naevoid basal cell carcinoma syndrome. 19002359 2008
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 GeneticVariation disease 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
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 GeneticVariation disease LHGDN PTCH germline mutations in Chinese nevoid basal cell carcinoma syndrome patients. 18302678 2008
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 GeneticVariation disease LHGDN Identification of a novel mutation in the PTCH gene in a Korean family with naevoid basal cell carcinoma syndrome. 16780502 2007
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 GeneticVariation disease LHGDN PTCH mutations: distribution and analyses. 16419085 2006
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 GeneticVariation disease LHGDN Germline mutations of the PTCH gene in families with odontogenic keratocysts and nevoid basal cell carcinoma syndrome. 16675912 2006
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 GeneticVariation disease LHGDN MC1R and PTCH gene polymorphism in French patients with basal cell carcinomas. 16645598 2006
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 Biomarker disease LHGDN Detecting tissue-specific alternative splicing and disease-associated aberrant splicing of the PTCH gene with exon junction microarrays. 16203740 2005
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 GeneticVariation disease LHGDN Constitutive activation of the shh-ptc1 pathway by a patched1 mutation identified in BCC. 15592520 2005
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 GeneticVariation disease LHGDN DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain. 16088933 2005
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 GeneticVariation disease LHGDN Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles. 15459969 2004
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 GeneticVariation disease LHGDN Mutations of the p53 and PTCH gene in basal cell carcinomas: UV mutation signature and strand bias. 12007715 2002
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 Biomarker disease MGD Ultraviolet and ionizing radiation enhance the growth of BCCs and trichoblastomas in patched heterozygous knockout mice. 10545995 1999
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.600 CausalMutation disease CGI