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 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 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 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 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 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
Xeroderma Pigmentosum, Complementation Group D
1.000 GeneticVariation disease BEFREE The objective was to assess whether two polymorphisms in the nucleotide excision repair gene XPD (ERCC2) are markers of SCCHN risk. 12110342 2002
Xeroderma Pigmentosum, Complementation Group D
1.000 GeneticVariation disease BEFREE No major modifications of the ERCC-2 gene were detected with two cDNA probes in either XP-D or TTD patients indicating that the association between TTD and XP-D is not likely to result from a large deletion or rearrangement involving this gene. 7510365 1994
Xeroderma Pigmentosum, Complementation Group D
1.000 GeneticVariation disease CLINVAR Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. 11709541 2001
Xeroderma Pigmentosum, Complementation Group D
1.000 GeneticVariation disease BEFREE The Xeroderma pigmentosum group D (XPD, also referred to as excision repair cross complementing gene 2, ERCC2) is one of key genes involved in nucleotide excision repair and two potentially functional polymorphisms of XPD (Asp312Asn and Lys751Gln) have been widely investigated in various cancers including prostate cancer. 23771356 2014
Xeroderma Pigmentosum, Complementation Group D
1.000 GeneticVariation disease BEFREE Genome sequence analysis indicated that the patient harbored a compound heterozygous mutation of c.1621A>C and c.591_594del, resulting in p.S541R and p.Y197* in ERCC2: then, patient was diagnosed with XP-D. Y197* has not been described before. 26993158 2016
Xeroderma Pigmentosum, Complementation Group D
1.000 GeneticVariation disease CLINVAR Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. 26884178 2016
Xeroderma Pigmentosum, Complementation Group D
1.000 GeneticVariation disease UNIPROT 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 Thus, we are developing a model for gene therapy in XP, particularly for patients belonging to group D. We report here the construction of a retroviral vector (LXPDSN) containing the XPD (ERCC2) cDNA, which fully complements the DNA repair deficiency of primary skin fibroblasts. 8590735 1995
Xeroderma Pigmentosum, Complementation Group D
1.000 GeneticVariation disease BEFREE Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2). 18637129 2009
Xeroderma Pigmentosum, Complementation Group D
1.000 GeneticVariation disease BEFREE In most cases, xeroderma pigmentosum group D (XP-D) and trichothiodystrophy (TTD) patients carry mutations in the carboxy-terminal domain of the evolutionarily conserved helicase XPD, which is one of the subunits of the transcription/repair factor TFIIH (refs 1,2). 9771713 1998
Xeroderma Pigmentosum, Complementation Group D
1.000 GeneticVariation disease BEFREE The effect of XPD/ERCC2 polymorphisms on gastric cancer risk among different ethnicities: a systematic review and meta-analysis. 23028453 2012
Xeroderma Pigmentosum, Complementation Group D
1.000 GeneticVariation disease BEFREE To study the relationships between mutagenesis and carcinogenesis, we compared the mutations and their frequency induced by ultraviolet irradiation at 254 nm (UV-C) in XP-D (GM-08207B/XP6BE), TTD/XP-D (TTD1VI-LAS-KMT11) and wild-type (MRC-5V1) human cells. 7563073 1995
Xeroderma Pigmentosum, Complementation Group D
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
Xeroderma Pigmentosum, Complementation Group D
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