Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
1.000 Biomarker disease GENOMICS_ENGLAND [Quantitative electron microscopy of the normal human lymphocyte (author's transl)]. 601675 1977
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
1.000 Biomarker disease CLINGEN XPD mutations prevent TFIIH-dependent transactivation by nuclear receptors and phosphorylation of RARalpha. 11955452 2002
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
1.000 Biomarker disease GENOMICS_ENGLAND Xeroderma pigmentosum-Cockayne syndrome complex. 28376890 2017
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
1.000 CausalMutation disease CLINVAR Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. 9238033 1997
Entrez Id: 7517
Gene Symbol: XRCC3
XRCC3
0.100 Biomarker disease BEFREE X-ray repair cross-complementing groups 1 and 3 (XRCC1 and XRCC3) and xeroderma pigmentosum group D (XPD) are mainly involved in base excision repair, homologous recombination repair, and nucleotide excision repair of DNA repair pathways, respectively. 17630853 2007
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
1.000 Biomarker disease BEFREE While HD1A closely resembles the XPD phenotype in terms of u.v. sensitivity and excision repair it differs from XPD because of its ability to reactivate u.v.-irradiated adenovirus 2 to an extent similar to that of its HeLa parent. 3757174 1986
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
1.000 GeneticVariation disease BEFREE Whether the single nucleotide polymorphism (SNP) Lys751Gln of xeroderma pigmentosum group D(XPD) gene increases susceptibility to head and neck cancer (HNC) is controversial and undetermined. 24443924 2014
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
0.100 GeneticVariation disease BEFREE When the genotype frequencies of XPD (Llys751Gln) and XRCC1 (Arg399Gln) genes were examined in the patient and control groups, no significant difference was detected, while a significant association was found in XRCC4 (VNTR in intron 3 and G-1394T) polymorphisms. 22183071 2011
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
1.000 GeneticVariation disease BEFREE When the genotype frequencies of XPD (Llys751Gln) and XRCC1 (Arg399Gln) genes were examined in the patient and control groups, no significant difference was detected, while a significant association was found in XRCC4 (VNTR in intron 3 and G-1394T) polymorphisms. 22183071 2011
Entrez Id: 978
Gene Symbol: CDA
CDA
0.040 GeneticVariation disease BEFREE We used polymerase chain reaction-restriction fragment length polymorphism to evaluate genetic polymorphisms of XPD (Asp312Asn and Lys751Gln) and CDA (Lys27Gln and Ala70Thr) in 93 NSCLC patients treated with a cisplatin-gemcitabine regimen. 24841663 2014
Entrez Id: 149420
Gene Symbol: PDIK1L
PDIK1L
0.010 Biomarker disease BEFREE We therefore consider it unlikely that either the XP-D or the XP-C DNA repair deficiency is associated with a defect in the beta subunit of casein kinase II. 1694965 1990
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
0.100 GeneticVariation disease BEFREE We studied the usefulness of the excision repair cross-complementing 1 (ERCC1), xeroderma pigmentosum group D (XPD), XRCC1 and GSTP1 polymorphisms as predictors of clinical outcome in these patients. 18797464 2008
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
0.100 GeneticVariation disease BEFREE We studied the role of genetic polymorphisms of two key DNA repair genes, xeroderma pigmentosum group D (XPD) (Asp312Asn and Lys751Gln) in the nucleotide excision repair (NER) pathway and X-ray repair cross-complementing gene 1 (XRCC1) (Arg399Gln) in the base excision repair (BER) pathway, in the development of EA in 183 cases and 336 frequency-matched controls for age, gender and race. 17264068 2007
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
0.100 GeneticVariation disease BEFREE We postulate that defects in the DNA repair genes XRCC1 and XPD may possibly be associated with the progression of POAG in male patients of Pakistani origin. 21617750 2011
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
1.000 GeneticVariation disease BEFREE We investigated the genetic basis for these findings by analysing the Asp312Asn and Lys751Gln polymorphisms of the XPD (ERCC2) DNA repair gene in the same subjects. 14735199 2004
Entrez Id: 3383
Gene Symbol: ICAM1
ICAM1
0.010 Biomarker disease BEFREE We have measured the capacity of UVB radiation to inhibit expression of the immunological key molecule intercellular adhesion molecule 1 (ICAM-1) in cells from three healthy individuals in comparison to cells from three XP-D and three TTD patients. 9192652 1997
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
1.000 Biomarker disease BEFREE We consider the possible consequences of the reduced cellular content of TFIIH for the clinical symptoms in XP-B or XP-D patients, and discuss a 'conditional phenotype' that may involve an impairment of cellular function only under certain growth conditions. 9427533 1997
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
0.050 Biomarker disease BEFREE We consider the possible consequences of the reduced cellular content of TFIIH for the clinical symptoms in XP-B or XP-D patients, and discuss a 'conditional phenotype' that may involve an impairment of cellular function only under certain growth conditions. 9427533 1997
Entrez Id: 404672
Gene Symbol: GTF2H5
GTF2H5
0.040 Biomarker disease BEFREE We consider the possible consequences of the reduced cellular content of TFIIH for the clinical symptoms in XP-B or XP-D patients, and discuss a 'conditional phenotype' that may involve an impairment of cellular function only under certain growth conditions. 9427533 1997
Entrez Id: 2966
Gene Symbol: GTF2H2
GTF2H2
0.030 Biomarker disease BEFREE We consider the possible consequences of the reduced cellular content of TFIIH for the clinical symptoms in XP-B or XP-D patients, and discuss a 'conditional phenotype' that may involve an impairment of cellular function only under certain growth conditions. 9427533 1997
Entrez Id: 2967
Gene Symbol: GTF2H3
GTF2H3
0.030 Biomarker disease BEFREE We consider the possible consequences of the reduced cellular content of TFIIH for the clinical symptoms in XP-B or XP-D patients, and discuss a 'conditional phenotype' that may involve an impairment of cellular function only under certain growth conditions. 9427533 1997
Entrez Id: 2965
Gene Symbol: GTF2H1
GTF2H1
0.030 Biomarker disease BEFREE We consider the possible consequences of the reduced cellular content of TFIIH for the clinical symptoms in XP-B or XP-D patients, and discuss a 'conditional phenotype' that may involve an impairment of cellular function only under certain growth conditions. 9427533 1997
Entrez Id: 2968
Gene Symbol: GTF2H4
GTF2H4
0.030 Biomarker disease BEFREE We consider the possible consequences of the reduced cellular content of TFIIH for the clinical symptoms in XP-B or XP-D patients, and discuss a 'conditional phenotype' that may involve an impairment of cellular function only under certain growth conditions. 9427533 1997
Entrez Id: 2950
Gene Symbol: GSTP1
GSTP1
0.020 Biomarker disease BEFREE We assessed whether single nucleotide polymorphisms (SNPs) in xeroderma pigmentosum group D (XPD), X-ray repair cross complementing group 1 (XRCC1) and glutathione S-transferase P1 (GSTP1) predicted overall survival in gastric cancer patients receiving oxaliplatin-based chemotherapy in Chinese population. 17593927 2007
Entrez Id: 27306
Gene Symbol: HPGDS
HPGDS
0.020 GeneticVariation disease BEFREE We assessed whether single nucleotide polymorphisms (SNPs) in xeroderma pigmentosum group D (XPD), X-ray repair cross complementing group 1 (XRCC1) and glutathione S-transferase P1 (GSTP1) predicted overall survival in gastric cancer patients receiving oxaliplatin-based chemotherapy in Chinese population. 17593927 2007