Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Xeroderma Pigmentosum, Complementation Group D
1.000 GeneticVariation disease BEFREE Mutations in the XPD gene in xeroderma pigmentosum group D cell strains: confirmation of genotype-phenotype correlation. 12116233 2002
Xeroderma Pigmentosum, Complementation Group D
1.000 CausalMutation disease CLINVAR Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 27004399 2016
Xeroderma Pigmentosum, Complementation Group D
1.000 Biomarker disease BEFREE The human DNA excision repair gene, ERCC2 (XPD), substantially corrected the plasmid UV hypersensitivity and UV hypermutability of xeroderma pigmentosum complementation group D cells; however, the dose response relationship varied for different end points. 8033104 1994
Xeroderma Pigmentosum, Complementation Group D
1.000 Biomarker disease BEFREE These cellular phenotypes are amenable to experimental strategies employing complementation, an approach previously used to demonstrate the correction of XP-D phenotypes following the introduction of the XPD (ERCC2) gene. 7849702 1994
Xeroderma Pigmentosum, Complementation Group D
1.000 Biomarker disease BEFREE Various combinations of the keywords and MeSH terms were used to screen for potentially relevant studies, specifically "genetic polymorphisms" or "SNPs" or "variation" or "single nucleotide polymorphism" or "polymorphism" or "mutation" or "variant"; "X-ray repair cross complementing protein 1" or "Xeroderma Pigmentosum Group D Protein" or "X-ray repair cross complementing protein 1" or "Xeroderma Pigmentosum Group D Protein" or "XPD" or "Xeroderma Pigmentosum Complementation Group D Protein" or "ERCC2" or "XRCC1" or "XRCC1 DNA repair protein"; and "Cataract" or " Membranous Cataract" or " Pseudoaphakia." 25873778 2015
Xeroderma Pigmentosum, Complementation Group D
1.000 CausalMutation disease CLINVAR The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D). 24252196 2013
Xeroderma Pigmentosum, Complementation Group D
1.000 GeneticVariation disease CLINVAR Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer. 27504877 2016
Xeroderma Pigmentosum, Complementation Group D
1.000 GeneticVariation disease UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254 1999
Xeroderma Pigmentosum, Complementation Group D
1.000 GeneticVariation disease BEFREE DNA repair gene polymorphisms, such as those of XRCC3 and xeroderma pigmentosum, complementation group D and G (XPD, XPG), contribute to carcinogenesis. 19096231 2008
Xeroderma Pigmentosum, Complementation Group D
1.000 GeneticVariation disease BEFREE We assessed polymorphisms in the aryl hydrocarbon receptor (AhR-Arg554Lys), null variants of the glutathione S-transferase superfamily (GSTM1 and GSTT1), x-ray repair cross-complementing 1 and 3, and Xeroderma pigmentosum, group D (XRCC1-Arg399Gln, XRCC3-Thr241Met, XPD-Lys751Gln). 15459223 2004
Xeroderma Pigmentosum, Complementation Group D
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
Xeroderma Pigmentosum, Complementation Group D
1.000 Biomarker disease BEFREE The xeroderma pigmentosum group D (XPD) helicase subunit of TFIIH functions in DNA repair and transcription initiation. 11242112 2001
Xeroderma Pigmentosum, Complementation Group D
1.000 Biomarker disease CTD_human
Xeroderma Pigmentosum, Complementation Group D
1.000 GeneticVariation disease UNIPROT These cellular phenotypes are amenable to experimental strategies employing complementation, an approach previously used to demonstrate the correction of XP-D phenotypes following the introduction of the XPD (ERCC2) gene. 7849702 1994
Xeroderma Pigmentosum, Complementation Group D
1.000 GeneticVariation disease BEFREE Xeroderma pigmentosum group D (XPD) rs13181 may reduce DNA repair capacity (DRC) through modifying XPD protein product. 24845027 2014
Xeroderma Pigmentosum, Complementation Group D
1.000 CausalMutation disease CLINVAR Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. 9238033 1997
Xeroderma Pigmentosum, Complementation Group D
1.000 Biomarker disease 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
Xeroderma Pigmentosum, Complementation Group D
1.000 Biomarker disease CLINGEN Nucleotide sequence analysis of the ERCC2 cDNA from five XP group D cell strains [XP6BE(SV40), XP17PV, XP102LO, A31-27 (a HeLa/XP102LO hybrid), and XP-CS-2] revealed mutations predominantly affecting previously identified functional domains. 7585650 1995
Xeroderma Pigmentosum, Complementation Group D
1.000 GeneticVariation disease BEFREE Nucleotide sequence analysis of the ERCC2 cDNA from five XP group D cell strains [XP6BE(SV40), XP17PV, XP102LO, A31-27 (a HeLa/XP102LO hybrid), and XP-CS-2] revealed mutations predominantly affecting previously identified functional domains. 7585650 1995
Xeroderma Pigmentosum, Complementation Group D
1.000 Biomarker disease GENOMICS_ENGLAND [Quantitative electron microscopy of the normal human lymphocyte (author's transl)]. 601675 1977
Xeroderma Pigmentosum, Complementation Group D
1.000 Biomarker disease GENOMICS_ENGLAND
Xeroderma Pigmentosum, Complementation Group D
1.000 GeneticVariation disease BEFREE Polymorphisms in some other DNA repair genes, including XPD (ERCC2), XRCC1 and ERCC6 (CSB) have also been reported to be associated with AMD. 23202958 2012
Xeroderma Pigmentosum, Complementation Group D
1.000 GeneticVariation disease CLINVAR Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl. 20633800 2010
Xeroderma Pigmentosum, Complementation Group D
1.000 Biomarker disease 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
Xeroderma Pigmentosum, Complementation Group D
1.000 GeneticVariation disease BEFREE For the most part, the authors found no association between these genes and the cancer sites investigated, except for some statistically significant associations between XPD/ERCC2 single nucleotide polymorphisms and skin, breast, and lung cancers. 16707649 2006