Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
1.000 CausalMutation disease CLINVAR
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
1.000 GeneticVariation disease CLINVAR
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
1.000 Biomarker disease CTD_human
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
1.000 GeneticVariation disease BEFREE Localization of the xeroderma pigmentosum group B-correcting gene ERCC3 to human chromosome 2q21. 1916809 1991
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
1.000 Biomarker disease CLINGEN A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome. 2167179 1990
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
1.000 GeneticVariation disease BEFREE The mRNA expression of DNA nucleotide excision repair genes ERCC1, XPD (ERCC2), XPB (ERCC3), and polymerase beta was found to be similar in both the MCF7-WT and MCF7-MLNr cells. 7491121 1995
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
1.000 Biomarker disease BEFREE ERCC3 was initially identified as a gene correcting the nucleotide excision repair (NER) defect of xeroderma pigmentosum complementation group B (XP-B). 8157004 1994
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
1.000 GeneticVariation disease BEFREE The human ERCC3 gene, which corrects specifically the nucleotide excision repair defect in human xeroderma pigmentosum group B and cross-complements the repair deficiency in rodent UV-sensitive mutants of group 3, encodes a presumed DNA helicase that is identical to the p89 subunit of the general transcription factor TFIIH/BTF2. 8196650 1994
Entrez Id: 10989
Gene Symbol: IMMT
IMMT
0.010 Biomarker disease BEFREE The human ERCC3 gene, which corrects specifically the nucleotide excision repair defect in human xeroderma pigmentosum group B and cross-complements the repair deficiency in rodent UV-sensitive mutants of group 3, encodes a presumed DNA helicase that is identical to the p89 subunit of the general transcription factor TFIIH/BTF2. 8196650 1994
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
1.000 GeneticVariation disease UNIPROT Here we report the identification of two new XP-B patients: XPCS1BA and XPCS2BA (siblings), by microneedle injection of the cloned ERCC3 repair gene as well as by cell hybridization. 8304337 1994
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
1.000 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: 2071
Gene Symbol: ERCC3
ERCC3
1.000 AlteredExpression disease BEFREE A 3' --> 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription. 8663148 1996
Entrez Id: 404672
Gene Symbol: GTF2H5
GTF2H5
0.020 AlteredExpression disease BEFREE A 3' --> 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription. 8663148 1996
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
0.020 AlteredExpression disease BEFREE A 3' --> 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription. 8663148 1996
Entrez Id: 2967
Gene Symbol: GTF2H3
GTF2H3
0.020 AlteredExpression disease BEFREE A 3' --> 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription. 8663148 1996
Entrez Id: 2965
Gene Symbol: GTF2H1
GTF2H1
0.020 AlteredExpression disease BEFREE A 3' --> 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription. 8663148 1996
Entrez Id: 2968
Gene Symbol: GTF2H4
GTF2H4
0.020 AlteredExpression disease BEFREE A 3' --> 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription. 8663148 1996
Entrez Id: 2966
Gene Symbol: GTF2H2
GTF2H2
0.020 AlteredExpression disease BEFREE A 3' --> 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription. 8663148 1996
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
1.000 GeneticVariation disease UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254 1999
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
1.000 AlteredExpression disease BEFREE Increased mRNA levels of xeroderma pigmentosum complementation group B (XPB) and Cockayne's syndrome complementation group B (CSB) without increased mRNA levels of multidrug-resistance gene (MDR1) or metallothionein-II (MT-II) in platinum-resistant human ovarian cancer tissues. 11077043 2000
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
0.010 AlteredExpression disease BEFREE Increased mRNA levels of xeroderma pigmentosum complementation group B (XPB) and Cockayne's syndrome complementation group B (CSB) without increased mRNA levels of multidrug-resistance gene (MDR1) or metallothionein-II (MT-II) in platinum-resistant human ovarian cancer tissues. 11077043 2000
Entrez Id: 4502
Gene Symbol: MT2A
MT2A
0.010 AlteredExpression disease BEFREE Increased mRNA levels of xeroderma pigmentosum complementation group B (XPB) and Cockayne's syndrome complementation group B (CSB) without increased mRNA levels of multidrug-resistance gene (MDR1) or metallothionein-II (MT-II) in platinum-resistant human ovarian cancer tissues. 11077043 2000
Entrez Id: 23158
Gene Symbol: TBC1D9
TBC1D9
0.010 AlteredExpression disease BEFREE Increased mRNA levels of xeroderma pigmentosum complementation group B (XPB) and Cockayne's syndrome complementation group B (CSB) without increased mRNA levels of multidrug-resistance gene (MDR1) or metallothionein-II (MT-II) in platinum-resistant human ovarian cancer tissues. 11077043 2000
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
1.000 Biomarker disease CLINGEN Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome. 16947863 2006
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
1.000 Biomarker disease GENOMICS_ENGLAND Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome. 16947863 2006