Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2 		0.700 GeneticVariation disease UNIPROT A temperature-sensitive disorder in basal transcription and DNA repair in humans. 11242112 2001
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2 		0.700 GeneticVariation disease 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
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2 		0.700 GeneticVariation disease UNIPROT DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient. 9195225 1997
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2 		0.700 GeneticVariation disease UNIPROT Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. 9238033 1997
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2 		0.700 Biomarker disease GENOMICS_ENGLAND A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. 9012405 1997
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2 		0.700 GeneticVariation disease UNIPROT Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy. 8571952 1996
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2 		0.700 GeneticVariation disease UNIPROT Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy. 7920640 1994
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2 		0.700 Biomarker disease GENOMICS_ENGLAND [Quantitative electron microscopy of the normal human lymphocyte (author's transl)]. 601675 1977
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2 		0.700 CausalMutation disease CLINVAR
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2 		0.700 GeneticVariation disease CLINVAR
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2 		0.700 Biomarker disease CTD_human
Entrez Id: 136647
Gene Symbol: MPLKIP
MPLKIP 		0.400 Biomarker disease CTD_human
Entrez Id: 136647
Gene Symbol: MPLKIP
MPLKIP 		0.400 CausalMutation disease CLINVAR
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3 		0.300 Biomarker disease GENOMICS_ENGLAND Xeroderma pigmentosum-Cockayne syndrome complex in two patients: absence of skin tumors despite severe deficiency of DNA excision repair. 8408834 1993
Entrez Id: 404672
Gene Symbol: GTF2H5
GTF2H5 		0.300 Biomarker disease GENOMICS_ENGLAND