Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 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 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
0.400 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
0.400 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
0.400 GeneticVariation disease BEFREE The subtle transcriptional differences found between various TFIIH variants thus participate in the phenotypic variability observed among XP, XP/CS, and TTD individuals. 25620205 2015
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 Biomarker disease BEFREE Since mutations at the ATP-binding groove of XPD in humans are present in the Xeroderma pigmentosum-Cockayne Syndrome (XP-CS), we recreated rem mutations in human cells, and found that these are XP-CS-like. 25500814 2014
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.400 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 2013
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 XPA and XPD and others can cause childhood XP neurological disease with widespread neuronal loss, axonal sensorimotor neuropathy, and dwarfing. 23622385 2013
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 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 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 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
0.400 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 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
0.400 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 2011
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.400 GeneticVariation disease BEFREE Mutations in three of the subunits, XPB, XPD and TTDA, lead to three distinct genetic disorders: xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD) predisposing patients not only to cancer and ageing but also to developmental and neurological defects. 21592869 2011
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 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 Mutational analysis of the XPD gene in XP2GO revealed two different mutations: a common p.Arg683Trp amino acid change (c.2047C>T) known to be associated with XP and a novel frameshift mutation c.2009delG (p.Gly670Alafs*39). 18637129 2009
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.400 GeneticVariation disease LHGDN 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
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