Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.700 GeneticVariation disease CLINVAR Interestingly, our results also found ERCC2(XPD), ERCC3(XPB) or ERCC5(XPG) mutations in two cases of UV-sensitive syndrome and in two cases with mixed XP/CS phenotypes. 27004399 2016
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.700 GeneticVariation disease BEFREE Interestingly, our results also found ERCC2(XPD), ERCC3(XPB) or ERCC5(XPG) mutations in two cases of UV-sensitive syndrome and in two cases with mixed XP/CS phenotypes. 27004399 2016
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.700 GeneticVariation disease BEFREE Clinically relevant mutations in the XPD helicase can lead to Xeroderma pigmentosum, Cockayne's syndrome, Trichothiodystrophy, or COFS syndrome. 23161009 2016
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.700 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 2016
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.700 GeneticVariation disease BEFREE XPB or XPD missense mutations lead to Xeroderma pigmentosum, Cockayne's syndrome, Trichothiodystrophy, or COFS syndrome, suggesting that DNA repair and transcription defects are responsible for clinical heterogeneity. 23276657 2015
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.700 GeneticVariation 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 2015
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.700 GeneticVariation disease BEFREE TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription. 25620205 2015
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.700 AlteredExpression disease BEFREE Mutations in the XPD subunit of the DNA repair/transcription factor TFIIH result in distinct clinical entities, including the cancer-prone xeroderma pigmentosum (XP) and the multisystem disorder trichothiodystrophy (TTD), which share only cutaneous photosensitivity. 25605938 2015
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.700 Biomarker disease BEFREE The rem mutations in the ATP-binding groove of the Rad3/XPD helicase lead to Xeroderma pigmentosum-Cockayne syndrome-like phenotypes. 25500814 2015
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.700 Biomarker disease BEFREE Mutations in human XPD (also known as ERCC2) mainly cause three clinical phenotypes: xeroderma pigmentosum (XP), Cockayne syndrome (XP/CS) and trichothiodystrophy (TTD), and only XP patients have a high predisposition to developing cancer. 25431422 2015
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.700 GeneticVariation disease BEFREE To describe the temporal bone histopathology in 2 individuals with XP (XPA and XPD) with neurologic degeneration and to discuss the possible causes of deafness in these patients. 23928520 2014
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.700 AlteredExpression disease BEFREE Interestingly, the XP/CS patient's cells exhibited a reduced but well detectable XPD protein expression compared with hardly detectable XPD expression of the TTD patient's cells. 23800062 2014
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.700 GeneticVariation disease BEFREE XPA and XPD and others can cause childhood XP neurological disease with widespread neuronal loss, axonal sensorimotor neuropathy, and dwarfing. 23622385 2014
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.700 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
0.700 GeneticVariation disease BEFREE In line with the severe XP/CS phenotypes of XP72MA and XP165MA, even the missense mutations failed to interact with the transcription factor IIH subunits XPD and to some extent cdk7 in coimmunoprecipitation assays. 23370536 2013
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.700 GeneticVariation disease BEFREE Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum. 22617342 2013
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.700 Biomarker disease BEFREE Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum. 23232694 2013
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.700 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
0.700 GeneticVariation disease 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
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.700 GeneticVariation disease BEFREE Our results suggested a link between TTD- but not XP-associated XPD mutations, placental maldevelopment and risk of pregnancy complications, possibly due to impairment of TFIIH-mediated functions in placenta. 22234153 2012
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.700 GeneticVariation disease BEFREE The bulky adducts, are recognized and repaired by nucleotid excision repair (NER) enzymes, including xeroderma pigmentosum C and D (XPC, XPD). 21390502 2012
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.700 Biomarker disease BEFREE This integration resolves puzzles regarding XP helicase functions and suggests that XP helicase positions and activities within TFIIH detect and verify damage, select the damaged strand for incision, and coordinate repair with transcription and cell cycle through CAK signaling. 21571596 2011
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.700 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
0.700 GeneticVariation disease BEFREE Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients. 19934020 2010
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.700 Biomarker disease BEFREE XPD and FANCJ have been connected to the genetic instability syndromes xeroderma pigmentosum and Fanconi anemia. 20137776 2010