Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs753641926
rs753641926
ERCC2
0.700 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254

1999
dbSNP: rs753641926
rs753641926
ERCC2
0.700 GeneticVariation UNIPROT Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. 7585650

1995
dbSNP: rs753641926
rs753641926
ERCC2
0.700 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: rs753641926
rs753641926
ERCC2
0.700 GeneticVariation UNIPROT Mutations in the XPD gene leading to xeroderma pigmentosum symptoms. 9101292

1997
dbSNP: rs753641926
rs753641926
ERCC2
0.700 GeneticVariation UNIPROT Selective regulation of vitamin D receptor-responsive genes by TFIIH. 15494306

2004
dbSNP: rs753641926
rs753641926
ERCC2
0.700 GeneticVariation UNIPROT Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. 7849702

1994
dbSNP: rs753641926
rs753641926
ERCC2
0.700 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