Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.340 GeneticVariation group LHGDN A Xeroderma pigmentosum group D gene polymorphism predicts clinical outcome to platinum-based chemotherapy in patients with advanced colorectal cancer. 11751380 2001
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.340 Biomarker group CTD_human ERCC2 2251A>C genetic polymorphism was highly correlated with early relapse in high-risk stage II and stage III colorectal cancer patients: a preliminary study. 18267032 2008
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.340 GeneticVariation group LHGDN ERCC2 2251A>C genetic polymorphism was highly correlated with early relapse in high-risk stage II and stage III colorectal cancer patients: a preliminary study. 18267032 2008
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.340 GeneticVariation group LHGDN Determination of ERCC2 Lys751Gln and GSTP1 Ile105Val gene polymorphisms in colorectal cancer patients: relationships with treatment outcome. 18085999 2007
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.340 GeneticVariation group LHGDN Polymorphisms of the XRCC1, XRCC3, & XPD genes, and colorectal cancer risk: a case-control study in Taiwan. 15679883 2005
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
0.330 Biomarker group CTD_human Polymorphism in the ERCC2 codon 751 is associated with arsenic-induced premalignant hyperkeratosis and significant chromosome aberrations. 17050553 2007
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
0.330 GeneticVariation group LHGDN XPD polymorphism and risk of subsequent cancer in individuals with nonmelanoma skin cancer. 15298945 2004
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
0.330 GeneticVariation group BEFREE In humans, mutation of the XPB or XPD gene impairs NER, resulting in hyper-sensitivity to sunlight and greatly increased skin tumor formation. 9427533 1997
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
0.330 GeneticVariation group LHGDN Polymorphisms in nucleotide excision repair genes, arsenic exposure, and non-melanoma skin cancer in New Hampshire. 17687452 2007
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.310 Biomarker group CTD_human Association of XPD polymorphisms with prostate cancer in Taiwanese patients. 17695467 2007
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.310 GeneticVariation group LHGDN Association of XPD polymorphisms with prostate cancer in Taiwanese patients. 17695467 2007
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities
0.310 Biomarker group CTD_human Polymorphisms in XPD (Asp312Asn and Lys751Gln) genes, sunburn and arsenic-related skin lesions. 17470448 2007
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities
0.310 GeneticVariation group BEFREE Mutations in the XPD subunit of the transcription/DNA repair factor (TFIIH) give rise to trichothiodystrophy (TTD), a rare hereditary multisystem disorder with skin abnormalities. 23221806 2013
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders
0.310 AlteredExpression group BEFREE Mutations in the DNA binding region of XPA were from patients with the more severe disease often associated with neurological complications, whereas mutations in the C-terminal end of the protein, which interacts with the TFIIH transcription factor, were from patients with milder skin disease only. 9671271 1998
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders
0.310 Biomarker group CTD_human Polymorphism in the ERCC2 codon 751 is associated with arsenic-induced premalignant hyperkeratosis and significant chromosome aberrations. 17050553 2007
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
0.310 GeneticVariation group LHGDN Xeroderma pigmentosum group D 751 polymorphism as a predictive factor in resected gastric cancer treated with chemo-radiotherapy. 17009404 2006
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
0.310 Biomarker group CTD_human Xeroderma pigmentosum group D 751 polymorphism as a predictive factor in resected gastric cancer treated with chemo-radiotherapy. 17009404 2006
CUI: C0028797
Disease: Occupational Diseases
Occupational Diseases
0.300 Biomarker group CTD_human [Association between polymorphisms of XPD gene and susceptibility to chronic benzene poisoning]. 16889696 2006
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.110 GeneticVariation group BEFREE Besides XP, mutations in XPD can cause another seemingly unrelated syndrome, trichothiodystrophy (TTD), characterized by sulfur-deficient brittle hair, ichthyosis, and physical and mental retardation. 7629061 1995
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.110 Biomarker group HPO
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE The overall analysis suggested a significant association between the ERCC2 Asp312Asn polymorphism and cancer risk. 28489582 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE Together with the role of 19S subunits in transcriptional regulation, homology between S12 and eIF3 and TFIIH subunits, coelution with immunoproteasome subunits, and differential posttranslational modification and nuclear localization, these data suggest a differential nuclear function of modified and unmodified S12 in cancer. 15221960 2004
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE We found out decreased cancer risk in genotype combinations between female patients and healthy controls: XPD Lys/Lys+XPC Lys/Gln (OR = 0.45; p = 0.02), XPD Lys/Gln+XPC Lys/Lys (OR = 0.32; p = 0.005), XPD Lys/Gln+XPC Lys/Gln (OR = 0.48; p = 0.02). 23673479 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE When the polymorphisms in XPD Asp312Asn and Lys751Gln were mutually adjusted, XPD Asp312Asn was not associated with increased risk of cancer. 14757194 2004
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE At conditional regression analysis, the Gln/Gln genotype in the XPD codon 751 showed the strongest association with both leukemic transformation (odds ratio [OR] = 4.9; 95% confidence interval [95% CI], 2.0-12) and development of nonmyeloid malignancies (OR = 4.2; 95% CI, 1.5-12). 22496165 2012