Disease: Photosensitive Trichothiodystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913021
rs121913021
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1866504
Disease:
Photosensitive Trichothiodystrophy 		0.800 GeneticVariation UNIPROT A temperature-sensitive disorder in basal transcription and DNA repair in humans. 11242112 2001
dbSNP: rs121913021
rs121913021
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1866504
Disease:
Photosensitive Trichothiodystrophy 		0.800 GeneticVariation UNIPROT Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity. 9758621 1998
dbSNP: rs121913021
rs121913021
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1866504
Disease:
Photosensitive Trichothiodystrophy 		0.800 GeneticVariation UNIPROT Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. 9238033 1997
dbSNP: rs121913021
rs121913021
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1866504
Disease:
Photosensitive Trichothiodystrophy 		0.800 GeneticVariation UNIPROT DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient. 9195225 1997
dbSNP: rs121913021
rs121913021
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1866504
Disease:
Photosensitive Trichothiodystrophy 		0.800 GeneticVariation UNIPROT Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy. 8571952 1996
dbSNP: rs121913021
rs121913021
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1866504
Disease:
Photosensitive Trichothiodystrophy 		0.800 GeneticVariation UNIPROT Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy. 7920640 1994
dbSNP: rs121913021
rs121913021
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1866504
Disease:
Photosensitive Trichothiodystrophy 		A 0.800 CausalMutation CLINVAR