Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.400 Biomarker disease BEFREE XPD and FANCJ have been connected to the genetic instability syndromes xeroderma pigmentosum and Fanconi anemia. 20137776 2010
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.400 GeneticVariation disease BEFREE XPD mutations frequently were associated with abnormal VDR stimulation in compound heterozygote patients with TTD, XP, or XP/TTD. 23232694 2013
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.400 Biomarker disease BEFREE TFIIH multi-protein complex with its important helicase-Xeroderma Pigmentosum Protein (XPD) serves as the pivotal factor for opening up of the damaged lesion DNA site and carry out the repair process. 29616226 2018
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.400 GeneticVariation disease LHGDN A Xeroderma pigmentosum group D gene polymorphism predicts clinical outcome to platinum-based chemotherapy in patients with advanced colorectal cancer. 11751380 2001
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.400 Biomarker disease BEFREE Accordingly, defects in specific enzymatic functions typically result in XP, dissociation of the CAK subunit from TFIIH is associated with XP/CS and a more generalized destabilization of TFIIH gives rise to TTD. 18077223 2008
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.400 Biomarker disease MGD An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria. 16904611 2006
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.400 AlteredExpression disease LHGDN Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients. 12820975 2003
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.400 GeneticVariation disease BEFREE Based upon these data, we hypothesize that variations in the human XPD/ERCC2 gene might increase the susceptibility for several disorders besides Xeroderma pigmentosum in heterozygotes under particular environmental conditions. 25951169 2015
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.400 GeneticVariation disease BEFREE Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients. 19934020 2009
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.400 GeneticVariation disease BEFREE Characteristics of UV-induced mutation spectra in human XP-D/ERCC2 gene-mutated xeroderma pigmentosum and trichothiodystrophy cells. 7563073 1995
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.400 GeneticVariation disease BEFREE Clinically relevant mutations in the XPD helicase can lead to Xeroderma pigmentosum, Cockayne's syndrome, Trichothiodystrophy, or COFS syndrome. 23161009 2013
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.400 Biomarker disease BEFREE Cockayne syndrome (CS) cells and xeroderma pigmentosum (XP) cells (XPD, XPA, XPG, and XPF) were defective in Pol II degradation, whereas XPC cells whose defect is limited to global genome NER in nontranscribing regions were proficient for Pol II degradation. 18927284 2008
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.400 GeneticVariation disease BEFREE Comparative study of nucleotide excision repair defects between XPD-mutated fibroblasts derived from trichothiodystrophy and xeroderma pigmentosum patients. 18817897 2008
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.400 GeneticVariation disease LHGDN Crystal structure of the FeS cluster-containing nucleotide excision repair helicase XPD. 18578568 2008
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.400 AlteredExpression disease BEFREE Defects in the xeroderma pigmentosum type B (XPB) gene (ERCC3), a DNA helicase involved in nucleotide excision repair (NER) and an essential subunit of the basal transcription factor, TFIIH, have been described in only three families. 16947863 2006
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.400 GeneticVariation disease BEFREE Different mutations in XPB and XPD can instead cause xeroderma pigmentosum (XP). 18579452 2008
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.400 GeneticVariation disease BEFREE Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum. 22617342 2012
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.400 GeneticVariation disease BEFREE Erratum: A noncancerous variant of xeroderma pigmentosum type D associated with novel heterozygous missense ERCC2 gene mutation. 29284765 2019
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.400 GeneticVariation disease BEFREE FANCJ belongs to a conserved iron-sulfur (Fe S) cluster family of helicases important for genomic stability including XPD (nucleotide excision repair), DDX11 (sister chromatid cohesion), and RTEL (telomere metabolism), genetically linked to xeroderma pigmentosum/Cockayne syndrome, Warsaw breakage syndrome, and dyskeratosis congenita, respectively. 23935105 2013
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.400 GeneticVariation disease BEFREE For the rare combined xeroderma pigmentosum (XP) and CS phenotype, all identified mutations are in three of the XP-associated genes, ERCC3 (XPB), ERCC2 (XPD), and ERCC5 (XPG). 23623389 2013
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.400 Biomarker disease BEFREE Frequent retrotransposition of endogenous genes in ERCC2-deficient cells derived from a patient with xeroderma pigmentosum. 31455402 2019
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.400 GeneticVariation disease BEFREE Impaired phosphorylation disrupts the transactivation, as observed in cells either overexpressing the non-phosphorylated AR/S515A, isolated from xeroderma pigmentosum patient (bearing a mutation in XPD subunit of TFIIH), or in which cdk7 kinase was silenced. 21157430 2011
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.400 Biomarker disease BEFREE In this work we describe the effect of ERCC2 on the DNA repair deficient phenotype of XP-D and on two repair-defective TTD cell strains (TTD1VI and TTD2VI) assigned by complementation analysis to group D of XP. 8055625 1994
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.400 GeneticVariation disease BEFREE Inborn defects in nucleotide excision DNA repair (NER) can paradoxically result in elevated cancer incidence (xeroderma pigmentosum [XP]) or segmental progeria without cancer predisposition (Cockayne syndrome [CS] and trichothiodystrophy [TTD]). 16904611 2006
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.400 GeneticVariation disease BEFREE Inherited mutations in the XPD subunit of the general transcription/repair factor TFIIH yield the rare genetic disorder Xeroderma pigmentosum (XP), the phenotypes of which cannot be explained solely on the basis of a DNA repair defect. 11955452 2002