| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.720 | GeneticVariation | UNIPROT | Selective regulation of vitamin D receptor-responsive genes by TFIIH. | 15494306 | 2004 |
||||
|
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 |
||||
|
0.720 | GeneticVariation | UNIPROT | A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. | 10447254 | 1999 |
||||
|
0.720 | GeneticVariation | UNIPROT | Mutations in the XPD gene leading to xeroderma pigmentosum symptoms. | 9101292 | 1997 |
||||
|
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 |
||||
|
0.720 | GeneticVariation | UNIPROT | Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. | 7585650 | 1995 |
||||
|
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 |
||||
|
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 |
||||
|
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 |