Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		1.000 Biomarker GENOMICS_ENGLAND Xeroderma pigmentosum. 22044607

2011
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		1.000 Biomarker GENOMICS_ENGLAND Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. 8797827

1996
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		1.000 Biomarker GENOMICS_ENGLAND Xeroderma pigmentosum complementation group F in a non-Japanese patient. 3372781

1988
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
CUI: C0268136
Disease: Xeroderma pigmentosum, group B
Xeroderma pigmentosum, group B 		1.000 Biomarker GENOMICS_ENGLAND 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
CUI: C0268136
Disease: Xeroderma pigmentosum, group B
Xeroderma pigmentosum, group B 		1.000 Biomarker 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: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		1.000 Biomarker GENOMICS_ENGLAND Peripheral neuropathy in xeroderma pigmentosum. 2168777

1990
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		1.000 Biomarker GENOMICS_ENGLAND A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan. 26743599

2016
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		1.000 Biomarker GENOMICS_ENGLAND Characteristics of Xeroderma Pigmentosum in Japan: Lessons From Two Clinical Surveys and Measures for Patient Care. 30565713

2019
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		1.000 Biomarker GENOMICS_ENGLAND Here, we report a Japanese XPA patient, XP79KO, a compound heterozygote with a newly identified T to G transversion at splice donor site in intron 1 in one allele, and with the AlwNI mutation in another allele in the XPA gene. 16098033

2005
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		1.000 Biomarker GENOMICS_ENGLAND Peripheral neuropathy in xeroderma pigmentosum. 2168777

1990
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		1.000 Biomarker GENOMICS_ENGLAND Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. 26884178

2016
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		1.000 Biomarker GENOMICS_ENGLAND A novel 5 nucleotide deletion in XPA gene is associated with severe neurological abnormalities. 26302748

2016
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
CUI: C1848411
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		1.000 Biomarker GENOMICS_ENGLAND Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. 26884178

2016
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
CUI: C1848411
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 1643
Gene Symbol: DDB2
DDB2
CUI: C1848411
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 1643
Gene Symbol: DDB2
DDB2
CUI: C1848411
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		1.000 Biomarker GENOMICS_ENGLAND Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype. 8798680

1996
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		1.000 Biomarker GENOMICS_ENGLAND [Quantitative electron microscopy of the normal human lymphocyte (author's transl)]. 601675

1977
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		1.000 Biomarker GENOMICS_ENGLAND A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. 9012405

1997
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		1.000 Biomarker GENOMICS_ENGLAND Xeroderma pigmentosum-Cockayne syndrome complex. 28376890

2017
Entrez Id: 7508
Gene Symbol: XPC
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 7508
Gene Symbol: XPC
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		1.000 Biomarker GENOMICS_ENGLAND