Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs376556895
rs376556895
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
G 0.810 CausalMutation CLINVAR Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 27004399 2016
dbSNP: rs376556895
rs376556895
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
G 0.810 CausalMutation 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
dbSNP: rs376556895
rs376556895
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
G 0.810 CausalMutation CLINVAR Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes. 23800062 2013
dbSNP: rs41556519
rs41556519
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
A 0.810 CausalMutation 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
dbSNP: rs376556895
rs376556895
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
G 0.810 CausalMutation CLINVAR 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
dbSNP: rs376556895
rs376556895
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
0.810 GeneticVariation UNIPROT Selective regulation of vitamin D receptor-responsive genes by TFIIH. 15494306 2004
dbSNP: rs376556895
rs376556895
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
G 0.810 CausalMutation CLINVAR Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients. 12820975 2003
dbSNP: rs376556895
rs376556895
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
0.810 GeneticVariation UNIPROT 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
dbSNP: rs376556895
rs376556895
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
G 0.810 CausalMutation CLINVAR Effects of XPD mutations on ultraviolet-induced apoptosis in relation to skin cancer-proneness in repair-deficient syndromes. 11710928 2001
dbSNP: rs376556895
rs376556895
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
0.810 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254 1999
dbSNP: rs376556895
rs376556895
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
G 0.810 CausalMutation CLINVAR Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. 9238033 1997
dbSNP: rs376556895
rs376556895
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
0.810 GeneticVariation UNIPROT Mutations in the XPD gene leading to xeroderma pigmentosum symptoms. 9101292 1997
dbSNP: rs376556895
rs376556895
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
0.810 GeneticVariation BEFREE Mutations of Arg658 to either His or Cys correlate with TTD cell strains with intermediate UV-sensitivity, mutation of Arg722 to Trp correlates with highly UV-sensitive TTD cell strains, and mutation of Arg683 to Trp correlates with XP-D. Alleles with mutation of Arg616 to Pro or with the combined mutation of Leu461 to Val and deletion of 716-730 are found in both XP-D and TTD cell strains. 8571952 1996
dbSNP: rs41556519
rs41556519
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
0.810 GeneticVariation BEFREE Mutations of Arg658 to either His or Cys correlate with TTD cell strains with intermediate UV-sensitivity, mutation of Arg722 to Trp correlates with highly UV-sensitive TTD cell strains, and mutation of Arg683 to Trp correlates with XP-D. Alleles with mutation of Arg616 to Pro or with the combined mutation of Leu461 to Val and deletion of 716-730 are found in both XP-D and TTD cell strains. 8571952 1996
dbSNP: rs376556895
rs376556895
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
0.810 GeneticVariation UNIPROT Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. 7585650 1995
dbSNP: rs376556895
rs376556895
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
0.810 GeneticVariation UNIPROT Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome. 7825573 1995
dbSNP: rs376556895
rs376556895
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
0.810 GeneticVariation UNIPROT Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. 7849702 1994
dbSNP: rs41556519
rs41556519
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
0.810 GeneticVariation UNIPROT
dbSNP: rs121913020
rs121913020
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
0.800 GeneticVariation UNIPROT Selective regulation of vitamin D receptor-responsive genes by TFIIH. 15494306 2004
dbSNP: rs121913024
rs121913024
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
0.800 GeneticVariation UNIPROT Selective regulation of vitamin D receptor-responsive genes by TFIIH. 15494306 2004
dbSNP: rs121913020
rs121913020
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
0.800 GeneticVariation UNIPROT 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
dbSNP: rs121913024
rs121913024
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
0.800 GeneticVariation UNIPROT 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
dbSNP: rs121913020
rs121913020
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
0.800 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254 1999
dbSNP: rs121913024
rs121913024
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
0.800 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254 1999
dbSNP: rs121913020
rs121913020
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
0.800 GeneticVariation UNIPROT Mutations in the XPD gene leading to xeroderma pigmentosum symptoms. 9101292 1997