PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
Disease: Malignant neoplasm of skin ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.330 Biomarker disease BEFREE Patched-2 functions to limit Patched-1 deficient skin cancer growth. 29869097 2018
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.330 GeneticVariation disease BEFREE Although our results do not exclude the presence of clonal alterations of the PTCH gene in skin cancers or mutations in other exons that were not screened, the present data do not support the presence of frequent mutations reported for non-melanoma skin cancer of other populations. 12700822 2003
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.330 GeneticVariation disease BEFREE Germline mutations of the human patched gene, PTCH, are responsible for the nevoid basal cell carcinoma (NBCC) syndrome or Gorlin's syndrome, characterized by multiple skin cancers, internal cancers and severe developmental abnormalities. 10838143 2000
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.330 Biomarker disease CTD_human Missense mutations in SMOH in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system. 9581815 1998