ERCC5, ERCC excision repair 5, endonuclease, 2073

N. diseases: 238; N. variants: 38
Disease: Xeroderma Pigmentosum, Type G-Cockayne Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1968561
Disease: Xeroderma Pigmentosum, Type G-Cockayne Syndrome
Xeroderma Pigmentosum, Type G-Cockayne Syndrome 		0.300 Biomarker disease MGD To test the hypothesis that the CS phenotype, with characteristics such as growth retardation and a short life span in XPG/CS patients, results from C-terminal truncations, we constructed mutants with C-terminal truncations in mouse XPG (Xpg) (from residue D811 to the stop codon [XpgD811stop] and deletion of exon 15 [Xpg Delta ex15]). 15082767 2004
CUI: C1968561
Disease: Xeroderma Pigmentosum, Type G-Cockayne Syndrome
Xeroderma Pigmentosum, Type G-Cockayne Syndrome 		0.300 Biomarker disease MGD Postnatal growth failure, short life span, and early onset of cellular senescence and subsequent immortalization in mice lacking the xeroderma pigmentosum group G gene. 10022922 1999
CUI: C1968561
Disease: Xeroderma Pigmentosum, Type G-Cockayne Syndrome
Xeroderma Pigmentosum, Type G-Cockayne Syndrome 		0.300 CausalMutation disease CLINVAR