Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025202
Disease: melanoma
melanoma
0.500 AlteredExpression disease BEFREE The dependence of TFIIH-CAK on sequence-specific MITF and c-MYC constitutes a previously unrecognized mechanism feeding into super-enhancer-driven or other oncogenic transcriptional circuitries, which supports the concept of a transcription-directed therapeutic intervention in melanoma. 30651597 2019
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE Epidemiological studies have assessed the association between excision repair cross-complementing group 2 (ERCC2) Lys751Gln and Asp312Asn polymorphisms and melanoma risk with conflicting results. 29768284 2018
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE The current meta-analyses results suggest that the XPD gene, but not the EGF gene, has contributed to CM susceptibility, and XPD is a possible drug target. 25537294 2015
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE On stratified analysis by tumor type, XPD Lys751Gln polymorphism was not associated with increased risk of non-melanoma skin cancer, but was significantly related with increased risk of cutaneous melanoma (Gln/Gln vs Lys/Lys: OR=1.15, 95%CI=1.02-1.29, p=0.023; dominant model: OR=1.09, 95%CI=1.01-1.18, p=0.036). 25169498 2014
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE Therefore, the meta-analysis suggests that there is a significant association between ERCC2 Lys751Gln polymorphism and susceptibility to cutaneous melanoma. 23494240 2013
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE The data from our study support the notion that only XPC and XPD genes are associated with melanoma susceptibility. 23436679 2013
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE Thus, ERCC5 codon 1104 and ERCC2 codon 751 polymorphisms are independent prognostic factors in patients with cutaneous melanoma. 21390047 2011
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE This is the first meta-analysis suggesting that XPD/ERCC2 might represent a low-penetrance melanoma susceptibility gene. 19706646 2009
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease LHGDN In this study, we examined Lys751Gln polymorphism at the XPD gene in 244 melanoma patients and 251 healthy individuals (as controls) from the south-eastern region of Sweden. 18575735 2008
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE Although an XPD haplotype was associated with melanoma, it did not contain the variant 751 Gln allele, which has been associated with melanoma in some previous studies. 17210993 2007
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease LHGDN The results provide further evidence for a role of XPD in the etiology of melanoma. 16258177 2006
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE The results provide further evidence for a role of XPD in the etiology of melanoma. 16258177 2006
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE To establish if the XPD common variants Asp312Asn and Lys751Gln are associated with an increased melanoma or breast cancer risk we performed an association study based on genotyping 426 unselected patients with malignant melanoma (MM) and 1830 consecutive breast cancer cases and compared the results to 1262 geographically matched newborns, 621 adults from the region of Szczecin (unselected for age and cancer family history), 421 healthy adults age- and sex-matched with the melanoma cases and 511 healthy controls matched with the breast cancer patients from the region of Szczecin. 16685590 2006
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE We concluded that genetic variants of the XPD gene might serve as biomarkers for susceptibility to cutaneous melanoma. 17164380 2006
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE Our data suggest these two XPD nonsynonymous polymorphisms may be associated with skin cancer risk, especially for melanoma. 15941969 2005
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE XPD variants may modify melanoma risk in subjects with specific host characteristics, such as older age, lack of dysplastic naevi or low tanning ability. 14735199 2004
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE There is a report that one of the polymorphic XPD alleles (exon 23 Lys), which is over-represented in the melanoma group, has reduced repair proficiency and we discuss the possibility that this is the causal change to the XPD gene that predisposes to melanoma. 11238179 2001
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease HPO
CUI: C0025202
Disease: melanoma
melanoma
0.500 CausalMutation disease CGI