Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913016
rs121913016
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
0.720 GeneticVariation UNIPROT Selective regulation of vitamin D receptor-responsive genes by TFIIH. 15494306 2004
dbSNP: rs121913016
rs121913016
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
0.720 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: rs121913016
rs121913016
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
0.720 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254 1999
dbSNP: rs121913016
rs121913016
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
0.720 GeneticVariation UNIPROT Mutations in the XPD gene leading to xeroderma pigmentosum symptoms. 9101292 1997
dbSNP: rs121913016
rs121913016
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
0.720 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: rs121913016
rs121913016
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
0.720 GeneticVariation UNIPROT Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. 7585650 1995
dbSNP: rs121913016
rs121913016
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
0.720 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: rs121913016
rs121913016
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
0.720 GeneticVariation BEFREE In cell line GM436 a C-->G transversion was found at nucleotide position 1411 in the XPD (ERCC2) cDNA, a change expected to result in a Leu461Val substitution. 7849702 1994
dbSNP: rs121913016
rs121913016
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
0.720 GeneticVariation UNIPROT In cell line GM436 a C-->G transversion was found at nucleotide position 1411 in the XPD (ERCC2) cDNA, a change expected to result in a Leu461Val substitution. 7849702 1994