Source: UNIPROT

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 GeneticVariation UNIPROT Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. 23623389

2013
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		1.000 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254

1999
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		1.000 GeneticVariation UNIPROT Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease. 9579555

1998
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		1.000 GeneticVariation UNIPROT Here we have identified XPF mRNA mutations and examined levels of the mRNA and protein expression in seven primary cell strains from Japanese XP-F patients. 9580660

1998
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		1.000 GeneticVariation UNIPROT Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. 8797827

1996