Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
Xeroderma Pigmentosum, Complementation Group D
1.000 Biomarker CTD_human

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
Xeroderma Pigmentosum, Complementation Group D
1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
Xeroderma Pigmentosum, Complementation Group D
1.000 GeneticVariation BEFREE Xeroderma pigmentosum group D (XPD) rs13181 may reduce DNA repair capacity (DRC) through modifying XPD protein product. 24845027

2014

Entrez Id: 1019
Gene Symbol: CDK4
CDK4
Xeroderma Pigmentosum, Complementation Group D
0.010 AlteredExpression BEFREE XPD overexpression suppressed the effects of PDGF-BB in promoting G1/S transition and accelerating protein expression levels of CDK4 and cyclin D1. 30146633

2018

Entrez Id: 595
Gene Symbol: CCND1
CCND1
Xeroderma Pigmentosum, Complementation Group D
0.010 AlteredExpression BEFREE XPD overexpression suppressed the effects of PDGF-BB in promoting G1/S transition and accelerating protein expression levels of CDK4 and cyclin D1. 30146633

2018

Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
Xeroderma Pigmentosum, Complementation Group D
0.010 GeneticVariation BEFREE XRCC4 (codon 247, promoter -1394, intron 3) and XPD (codon 312, codon 751, promoter -114) polymorphisms were genotyped by polymerase chain reaction with restriction enzyme digestions. 18177646

2008

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
Xeroderma Pigmentosum, Complementation Group D
1.000 Biomarker BEFREE XPD (ERCC2) is a DNA helicase involved in nucleotide excision repair and in transcription as a structural bridge tying the transcription factor IIH (TFIIH) core with the cdk-activating kinase complex, which phosphorylates nuclear receptors. 23232694

2013

Entrez Id: 23411
Gene Symbol: SIRT1
SIRT1
Xeroderma Pigmentosum, Complementation Group D
0.010 Biomarker BEFREE Sirt1 suppresses RNA synthesis after UV irradiation in combined xeroderma pigmentosum group D/Cockayne syndrome (XP-D/CS) cells. 23267107

2013

Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
Xeroderma Pigmentosum, Complementation Group D
0.020 Biomarker BEFREE A key nucleotide excision repair (NER) protein, xeroderma pigmentosum group D (XPD), is responsible for the excision of a large variety of bulky DNA lesions. 29362353

2018

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
Xeroderma Pigmentosum, Complementation Group D
1.000 Biomarker GENOMICS_ENGLAND A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. 9012405

1997

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
Xeroderma Pigmentosum, Complementation Group D
1.000 Biomarker CLINGEN A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity. 22826098

2012

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
Xeroderma Pigmentosum, Complementation Group D
1.000 CausalMutation CLINVAR A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity. 22826098

2012

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
Xeroderma Pigmentosum, Complementation Group D
1.000 GeneticVariation BEFREE A photosensitive form of trichothiodystrophy (TTD) results from mutations in the same XPD gene as the DNA-repair-deficient genetic disorder xeroderma pigmentosum group D (XP-D). 15009740

2004

Entrez Id: 4968
Gene Symbol: OGG1
OGG1
Xeroderma Pigmentosum, Complementation Group D
0.090 Biomarker BEFREE A significant joint effect of cigarette smoking, alcohol consumption and both hOGG1 and XPD risk genotypes increases UC risk and UC cases carrying both hOGG1 and XPD risk genotypes have a significantly greater risk of high grade tumor. 22110223

2011

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
Xeroderma Pigmentosum, Complementation Group D
1.000 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254

1999

Entrez Id: 6240
Gene Symbol: RRM1
RRM1
Xeroderma Pigmentosum, Complementation Group D
0.020 GeneticVariation BEFREE A total of 109 patients with stage IIIA and IIIB NSCLC were prospectively genotyped to examine a potential association between XPD 312 (aspartic acid [Asp]/asparagine [Asn]), XPD 751 (lysine [Lys]/glutamine [Gln]), and RRM1 (-37 C/A) polymorphisms with response and survival. 27908619

2017

Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
Xeroderma Pigmentosum, Complementation Group D
0.020 GeneticVariation BEFREE Among the DNA repair systems, the base excision repair (BER) and nucleotide excision repair (NER) systems are the major ones involved in repairing UV-induced DNA damage; X-ray repair cross complementary 1 (XRCC1) and human 8-oxoguanine DNA glycosylase 1 (hOGG1) are two BER genes, and xeroderma pigmentosum group A (XPA) and xeroderma pigmentosum group D (XPD) are two NER genes. 20431719

2010

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
Xeroderma Pigmentosum, Complementation Group D
1.000 Biomarker CLINGEN An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria. 16904611

2006

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
Xeroderma Pigmentosum, Complementation Group D
1.000 Biomarker MGD An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria. 16904611

2006

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
Xeroderma Pigmentosum, Complementation Group D
1.000 GeneticVariation BEFREE Association between the XPD/ERCC2 Lys751Gln polymorphism and risk of cancer: evidence from 224 case-control studies. 25113251

2014

Entrez Id: 9582
Gene Symbol: APOBEC3B
APOBEC3B
Xeroderma Pigmentosum, Complementation Group D
0.030 GeneticVariation BEFREE Association of xeroderma pigmentosum group D (Asp312Asn, Lys751Gln) and cytidine deaminase (Lys27Gln, Ala70Thr) polymorphisms with outcome in Chinese non-small cell lung cancer patients treated with cisplatin-gemcitabine. 24841663

2014

Entrez Id: 978
Gene Symbol: CDA
CDA
Xeroderma Pigmentosum, Complementation Group D
0.040 GeneticVariation BEFREE Association of cytidine deaminase and xeroderma pigmentosum group D polymorphisms with response, toxicity, and survival in cisplatin/gemcitabine-treated advanced non-small cell lung cancer patients. 22052224

2011

Entrez Id: 9582
Gene Symbol: APOBEC3B
APOBEC3B
Xeroderma Pigmentosum, Complementation Group D
0.030 GeneticVariation BEFREE Association of cytidine deaminase and xeroderma pigmentosum group D polymorphisms with response, toxicity, and survival in cisplatin/gemcitabine-treated advanced non-small cell lung cancer patients. 22052224

2011

Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
Xeroderma Pigmentosum, Complementation Group D
0.100 GeneticVariation BEFREE Associations between lung cancer risk and common polymorphisms in the DNA repair genes xeroderma pigmentosum complementation group D (XPD), X-ray repair cross-complementing group 1 (XRCC1), XRCC3 and apurinic/apyrimidinic endonuclease/redox factor 1 were examined within a randomized clinical trial designed to determine whether alpha-tocopherol, beta-carotene, or both would reduce cancer incidence among male smokers in Finland. 12618330

2003

Entrez Id: 7517
Gene Symbol: XRCC3
XRCC3
Xeroderma Pigmentosum, Complementation Group D
0.100 Biomarker BEFREE Associations between lung cancer risk and common polymorphisms in the DNA repair genes xeroderma pigmentosum complementation group D (XPD), X-ray repair cross-complementing group 1 (XRCC1), XRCC3 and apurinic/apyrimidinic endonuclease/redox factor 1 were examined within a randomized clinical trial designed to determine whether alpha-tocopherol, beta-carotene, or both would reduce cancer incidence among male smokers in Finland. 12618330

2003