Source: CLINGEN

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 CLINGEN Clinical utility gene card for: Xeroderma pigmentosum. 24105368

2014
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		1.000 Biomarker CLINGEN Premature aging in mice deficient in DNA repair and transcription. 11950998

2002
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		1.000 Biomarker CLINGEN Here we show that mice lacking both the XPA (XP-group A) and CSB (CS-group B) genes in contrast to the single mutants display severe growth retardation, ataxia, and motor dysfunction during early postnatal development. 11687625

2001
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		1.000 Biomarker CLINGEN High incidence of ultraviolet-B-or chemical-carcinogen-induced skin tumours in mice lacking the xeroderma pigmentosum group A gene. 7675085

1995
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		1.000 Biomarker CLINGEN The molecular basis of group A xeroderma pigmentosum (XP) was investigated, and 3 mutations located in a zinc finger consensus sequence (nucleotide 313-387) of the XP group A complementing (XPAC) gene were identified in 2 Caucasian patients GM2990 and GM2009 who had typical symptoms of group A XP. 1339397

1992
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		1.000 Biomarker CLINGEN Three nonsense mutations responsible for group A xeroderma pigmentosum. 1372102

1992
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		1.000 Biomarker CLINGEN Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain. 2234061

1990