Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913049
rs121913049
ERCC4
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		T 0.700 CausalMutation CLINVAR Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease. 21612988

2011
dbSNP: rs121913049
rs121913049
ERCC4
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		T 0.700 CausalMutation CLINVAR Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients. 20221251

2010
dbSNP: rs121913049
rs121913049
ERCC4
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		T 0.700 CausalMutation CLINVAR Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease. 9579555

1998
dbSNP: rs121913049
rs121913049
ERCC4
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		T 0.700 CausalMutation CLINVAR Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. 8797827

1996
dbSNP: rs147105770
rs147105770
ERCC4
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		T 0.700 GeneticVariation CLINVAR Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. 26884178

2016
dbSNP: rs147105770
rs147105770
ERCC4
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		T 0.700 GeneticVariation CLINVAR The ERCC1 and ERCC4 (XPF) genes and gene products. 26074087

2015
dbSNP: rs147105770
rs147105770
ERCC4
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		T 0.700 GeneticVariation CLINVAR Physical interaction between SLX4 (FANCP) and XPF (FANCQ) proteins and biological consequences of interaction-defective missense mutations. 26453996

2015
dbSNP: rs147105770
rs147105770
ERCC4
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		T 0.700 GeneticVariation CLINVAR Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. 23623389

2013
dbSNP: rs147105770
rs147105770
ERCC4
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		T 0.700 GeneticVariation CLINVAR Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease. 21612988

2011
dbSNP: rs147105770
rs147105770
ERCC4
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		T 0.700 GeneticVariation CLINVAR Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients. 20221251

2010
dbSNP: rs147105770
rs147105770
ERCC4
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555468482
rs1555468482
ERCC4
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		A 0.700 CausalMutation CLINVAR Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. 23623389

2013
dbSNP: rs869025184
rs869025184
ERCC4
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		T 0.700 CausalMutation CLINVAR