|
Triglycerides measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
|
23063622 |
2012 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
CLINGEN |
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 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Nucleotide sequence analysis of the ERCC2 cDNA from five XP group D cell strains [XP6BE(SV40), XP17PV, XP102LO, A31-27 (a HeLa/XP102LO hybrid), and XP-CS-2] revealed mutations predominantly affecting previously identified functional domains.
|
7585650 |
1995 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
CLINGEN |
An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.
|
16904611 |
2006 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
CLINGEN |
XPD mutations prevent TFIIH-dependent transactivation by nuclear receptors and phosphorylation of RARalpha.
|
11955452 |
2002 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Here we report on two causative mutations of the XPD gene in XP61OS, a Japanese XP group D patient who has only mild skin symptoms of XP without CS, TTD, or other neurological complications.
|
9101292 |
1997 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
CLINGEN |
These cellular phenotypes are amenable to experimental strategies employing complementation, an approach previously used to demonstrate the correction of XP-D phenotypes following the introduction of the XPD (ERCC2) gene.
|
7849702 |
1994 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Clinical utility gene card for: Xeroderma pigmentosum.
|
24105368 |
2014 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
CLINGEN |
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 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
[Quantitative electron microscopy of the normal human lymphocyte (author's transl)].
|
601675 |
1977 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
|
9012405 |
1997 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Xeroderma pigmentosum-Cockayne syndrome complex.
|
28376890 |
2017 |
|
Trichothiodystrophy Syndromes
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Cerebrooculofacioskeletal Syndrome 2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
|
9012405 |
1997 |
|
Cerebrooculofacioskeletal Syndrome 2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Photosensitive Trichothiodystrophy
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Photosensitive Trichothiodystrophy
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
|
9012405 |
1997 |
|
Photosensitive Trichothiodystrophy
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
[Quantitative electron microscopy of the normal human lymphocyte (author's transl)].
|
601675 |
1977 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.
|
10447254 |
1999 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
These cellular phenotypes are amenable to experimental strategies employing complementation, an approach previously used to demonstrate the correction of XP-D phenotypes following the introduction of the XPD (ERCC2) gene.
|
7849702 |
1994 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Nucleotide sequence analysis of the ERCC2 cDNA from five XP group D cell strains [XP6BE(SV40), XP17PV, XP102LO, A31-27 (a HeLa/XP102LO hybrid), and XP-CS-2] revealed mutations predominantly affecting previously identified functional domains.
|
7585650 |
1995 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Here we report on two causative mutations of the XPD gene in XP61OS, a Japanese XP group D patient who has only mild skin symptoms of XP without CS, TTD, or other neurological complications.
|
9101292 |
1997 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Selective regulation of vitamin D receptor-responsive genes by TFIIH.
|
15494306 |
2004 |