Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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 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: 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 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