Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs376556895
rs376556895
ERCC2
G 0.810 CausalMutation CLINVAR Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 27004399

2016
dbSNP: rs376556895
rs376556895
ERCC2
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
ERCC2
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
ERCC2
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
ERCC2
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
ERCC2
0.810 GeneticVariation UNIPROT Selective regulation of vitamin D receptor-responsive genes by TFIIH. 15494306

2004
dbSNP: rs376556895
rs376556895
ERCC2
G 0.810 CausalMutation CLINVAR Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients. 12820975

2003
dbSNP: rs376556895
rs376556895
ERCC2
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
ERCC2
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
ERCC2
0.810 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254

1999
dbSNP: rs376556895
rs376556895
ERCC2
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
ERCC2
0.810 GeneticVariation UNIPROT Mutations in the XPD gene leading to xeroderma pigmentosum symptoms. 9101292

1997
dbSNP: rs376556895
rs376556895
ERCC2
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
ERCC2
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
ERCC2
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
ERCC2
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
ERCC2
0.810 GeneticVariation UNIPROT Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. 7849702

1994
dbSNP: rs41556519
rs41556519
ERCC2
0.810 GeneticVariation UNIPROT

dbSNP: rs121913020
rs121913020
ERCC2
0.800 GeneticVariation UNIPROT Selective regulation of vitamin D receptor-responsive genes by TFIIH. 15494306

2004
dbSNP: rs121913024
rs121913024
ERCC2
0.800 GeneticVariation UNIPROT Selective regulation of vitamin D receptor-responsive genes by TFIIH. 15494306

2004
dbSNP: rs121913020
rs121913020
ERCC2
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
ERCC2
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
ERCC2
0.800 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254

1999
dbSNP: rs121913024
rs121913024
ERCC2
0.800 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254

1999
dbSNP: rs121913020
rs121913020
ERCC2
0.800 GeneticVariation UNIPROT Mutations in the XPD gene leading to xeroderma pigmentosum symptoms. 9101292

1997