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: C0025202
Disease: melanoma
melanoma
0.160 GeneticVariation disease BEFREE Assessing a single SNP located at TERT/CLPTM1L multi-cancer risk region as a genetic modifier for risk of pancreatic cancer and melanoma in Dutch CDKN2A mutation carriers. 31203567 2019
CUI: C0025202
Disease: melanoma
melanoma
0.160 GeneticVariation disease BEFREE We observed statistically significant associations with melanoma for two lung cancer SNPs in the TERT-CLPTM1L locus (Bonferroni-corrected p<2.8x10-4), replicating known pleiotropic effects at this locus. 25789475 2015
CUI: C0025202
Disease: melanoma
melanoma
0.160 GeneticVariation disease BEFREE In the melanoma dataset, two pancreatic cancer susceptibility variants were associated: NR5A2 (rs12029406; OR, 1.39; 95% CI, 1.01-1.92; P = 0.04) and CLPTM1L-TERT (rs401681; OR, 1.16; 95% CI, 1.01-1.34; P = 0.04). 24642353 2014
CUI: C0025202
Disease: melanoma
melanoma
0.160 GeneticVariation disease BEFREE We also obtained significant results when we tested the association between rs401681 variant (TERT-CLPTM1L locus) with melanoma risk (Odds ratio, OR; 95% confidence interval, CI=1.24 (1.08-1.43); p-value, 3×10(-3)). 25457634 2014
CUI: C0025202
Disease: melanoma
melanoma
0.160 GeneticVariation disease GWASCAT Genome-wide association study identifies three new melanoma susceptibility loci. 21983787 2011
CUI: C0025202
Disease: melanoma
melanoma
0.160 GeneticVariation disease BEFREE Also, the SNP rs401681 in the TERT-CLPTM1L locus was replicated for the association with melanoma risk. 21116649 2011
CUI: C0025202
Disease: melanoma
melanoma
0.160 GeneticVariation disease GWASDB Genome-wide association study identifies three new melanoma susceptibility loci. 21983787 2011
CUI: C0025202
Disease: melanoma
melanoma
0.160 GeneticVariation disease BEFREE Finally, we report conclusive evidence that rs401681[C] in the TERT-CLPTM1L locus confers susceptibility to BCC but protects against melanoma. 19578363 2009