CLPTM1L, CLPTM1 like, 81037

N. diseases: 110; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		0.010 Biomarker disease BEFREE This includes intrachromosomal translocations involving GLIS2 and ETO2/CBFA2T3 in the development of pediatric non-Down's syndrome (DS), acute megakaryoblastic leukemia (AMKL), a malignancy with poor prognosis, and an association of interchromosomal translocations between GLIS3, GLIS1, and PAX8, and between GLIS3 and CLPTM1L with hyalinizing trabecular tumors (HTTs) and fibrolamellar hepatocellular carcinoma (FHCC), respectively. 31474360 2019
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.030 GeneticVariation group BEFREE In summary, our results show that genetic variation in the CLPTM1L-TERT locus of chromosome 5p15.33 is directly associated with the risk of lung cancer, most notably adenocarcinoma. 20700438 2010
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.030 GeneticVariation group BEFREE Genetic variants in TERT and CLPTM1L may affect the susceptibility of lung cancer, especially adenocarcinoma in Chinese women nonsmokers. 23738012 2013
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.030 GeneticVariation group BEFREE Additionally, in a subgroup analysis by histology type, the CLPTM1L rs401681 polymorphism was found to significantly decrease the risks of both adenocarcinoma and squamous cell carcinoma of the lung in all genetic models. 24634236 2014
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.460 AlteredExpression disease BEFREE Here we find CLPTM1L expression to be increased in lung adenocarcinomas compared to matched normal lung tissues and in lung tumor cell lines by mechanisms not exclusive to copy number gain. 22675468 2012
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.460 GeneticVariation disease BEFREE Multiple variants of TERT and CLPTM1L constitute risk factors for lung adenocarcinoma. 22370939 2012
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.460 GeneticVariation disease GWASCAT Identification of risk loci and a polygenic risk score for lung cancer: a large-scale prospective cohort study in Chinese populations. 31326317 2019
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.460 GeneticVariation disease GWASCAT Lung Cancer Risk in Never-Smokers of European Descent is Associated With Genetic Variation in the 5p15.33 TERT-CLPTM1Ll Region. 31009812 2019
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.460 GeneticVariation disease BEFREE The long TL genetic score was significantly associated with increased risk of lung adenocarcinoma (P = 6.3 × 10(-15)), even after exclusion of a SNP residing in a known lung cancer susceptibility region (TERT-CLPTM1L) P = 6.6 × 10(-6)). 26138067 2015
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.460 AlteredExpression disease BEFREE Here using immunohistochemistry, we found that CLPTM1L expression was markedly increased in lung cancer tissues relative to normal tissues, especially in lung adenocarcinoma. 23300716 2012
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.460 GeneticVariation disease BEFREE Gene variations rs2736100 and rs2853676 in TERT and rs401681 and rs31489 in CLPTM1L had significant direct associations on lung adenocarcinoma without indirect effects through nicotine dependence. 25233467 2014
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.460 Biomarker disease CTD_human Here we find CLPTM1L expression to be increased in lung adenocarcinomas compared to matched normal lung tissues and in lung tumor cell lines by mechanisms not exclusive to copy number gain. 22675468 2012
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.460 GeneticVariation disease GWASCAT A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. 19836008 2009
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.460 GeneticVariation disease GWASDB A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. 19836008 2009
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.460 GeneticVariation disease BEFREE A recent genome-wide association study of lung cancer among never-smoking females in Asia demonstrated that the rs2736100 polymorphism in the TERT-CLPTM1L locus on chromosome 5p15.33 was strongly and significantly associated with risk of adenocarcinoma of the lung. 23555636 2013
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.010 Biomarker disease BEFREE This interaction and the chemoresistance effect conferred by this pathway is targetable with our recently developed inhibitory CLPTM1L antibodies, which may represent novel modalities of chemosensitization and treatment of pancreatic adenocarcinoma. 30468251 2019
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		0.100 GeneticVariation disease GWASCAT Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma. 24403052 2014
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		0.100 GeneticVariation disease GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		0.100 GeneticVariation disease GWASCAT Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma. 27539887 2016
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		0.100 GeneticVariation disease GWASCAT Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. 19151717 2009
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		0.100 GeneticVariation disease GWASCAT New basal cell carcinoma susceptibility loci. 25855136 2015
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.100 GeneticVariation disease GWASCAT Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma. 27539887 2016
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.100 GeneticVariation disease GWASCAT New basal cell carcinoma susceptibility loci. 25855136 2015
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.100 GeneticVariation disease GWASCAT Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. 19151717 2009
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.100 GeneticVariation disease GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019