DisGeNET - a database of gene-disease associations

ERCC4, ERCC excision repair 4, endonuclease catalytic subunit, 2072

N. diseases: 325; N. variants: 33

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs397509402

Entrez Id:	2072
Gene Symbol:	ERCC4

ERCC4

CUI:	C3808988
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP Q

0.800

GeneticVariation

UNIPROT

Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles.

24027083

2013

dbSNP:

rs397509402

Entrez Id:	2072
Gene Symbol:	ERCC4

ERCC4

CUI:	C3808988
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP Q

0.800

GeneticVariation

UNIPROT

Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.

23623386

2013

dbSNP:

rs121913050

Entrez Id:	2072
Gene Symbol:	ERCC4

ERCC4

CUI:	C1970416
Disease:

XFE Progeroid Syndrome

0.800

CausalMutation

CLINVAR

dbSNP:

rs121913050

Entrez Id:	2072
Gene Symbol:	ERCC4

ERCC4

CUI:	C1970416
Disease:

XFE Progeroid Syndrome

0.800

GeneticVariation

UNIPROT

dbSNP:

rs397509402

Entrez Id:	2072
Gene Symbol:	ERCC4

ERCC4

CUI:	C3808988
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP Q

0.800

CausalMutation

CLINVAR

dbSNP:

rs147105770

Entrez Id:	2072
Gene Symbol:	ERCC4

ERCC4

CUI:	C0009207
Disease:

Cockayne Syndrome

0.710

GeneticVariation

BEFREE

The missense mutation p.Arg589Trp was previously detected in patients diagnosed with Xeroderma pigmentosum or Cockayne syndrome.

29325523

2018

dbSNP:

rs147105770

Entrez Id:	2072
Gene Symbol:	ERCC4

ERCC4

CUI:	C0009207
Disease:

Cockayne Syndrome

0.710

GeneticVariation

CLINVAR

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.

26884178

2016

dbSNP:

rs147105770

Entrez Id:	2072
Gene Symbol:	ERCC4

ERCC4

CUI:	C0009207
Disease:

Cockayne Syndrome

0.710

GeneticVariation

CLINVAR

Physical interaction between SLX4 (FANCP) and XPF (FANCQ) proteins and biological consequences of interaction-defective missense mutations.

26453996

2015

dbSNP:

rs147105770

Entrez Id:	2072
Gene Symbol:	ERCC4

ERCC4

CUI:	C0009207
Disease:

Cockayne Syndrome

0.710

GeneticVariation

CLINVAR

The ERCC1 and ERCC4 (XPF) genes and gene products.

26074087

2015

dbSNP:

rs147105770

Entrez Id:	2072
Gene Symbol:	ERCC4

ERCC4

CUI:	C0009207
Disease:

Cockayne Syndrome

0.710

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

Entrez Id:	2072
Gene Symbol:	ERCC4

ERCC4

CUI:	C0009207
Disease:

Cockayne Syndrome

0.710

GeneticVariation

CLINVAR

Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease.

21612988

2011

dbSNP:

rs147105770

Entrez Id:	2072
Gene Symbol:	ERCC4

ERCC4

CUI:	C0009207
Disease:

Cockayne Syndrome

0.710

GeneticVariation

CLINVAR

Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients.

20221251

2010

dbSNP:

rs147105770

Entrez Id:	2072
Gene Symbol:	ERCC4

ERCC4

CUI:	C0268140
Disease:

Xeroderma pigmentosum, group F

0.700

GeneticVariation

CLINVAR

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.

26884178

2016

dbSNP:

rs147105770

Entrez Id:	2072
Gene Symbol:	ERCC4

ERCC4

CUI:	C3808988
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP Q

0.700

GeneticVariation

CLINVAR

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.

26884178

2016

dbSNP:

rs147105770

Entrez Id:	2072
Gene Symbol:	ERCC4

ERCC4

CUI:	C3808988
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP Q

0.700

GeneticVariation

CLINVAR

The ERCC1 and ERCC4 (XPF) genes and gene products.

26074087

2015

dbSNP:

rs147105770

Entrez Id:	2072
Gene Symbol:	ERCC4

ERCC4

CUI:	C0268140
Disease:

Xeroderma pigmentosum, group F

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

Entrez Id:	2072
Gene Symbol:	ERCC4

ERCC4

CUI:	C0268140
Disease:

Xeroderma pigmentosum, group F

0.700

GeneticVariation

CLINVAR

The ERCC1 and ERCC4 (XPF) genes and gene products.

26074087

2015

dbSNP:

rs147105770

Entrez Id:	2072
Gene Symbol:	ERCC4

ERCC4

CUI:	C3808988
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP Q

0.700

GeneticVariation

CLINVAR

Physical interaction between SLX4 (FANCP) and XPF (FANCQ) proteins and biological consequences of interaction-defective missense mutations.

26453996

2015

dbSNP:

rs1451008479

Entrez Id:	2072
Gene Symbol:	ERCC4

ERCC4

CUI:	C3808988
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP Q

0.700

GeneticVariation

UNIPROT

Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles.

24027083

2013

dbSNP:

rs1451008479

Entrez Id:	2072
Gene Symbol:	ERCC4

ERCC4

CUI:	C3808988
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP Q

0.700

GeneticVariation

UNIPROT

Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.

23623386

2013

dbSNP:

rs147105770

Entrez Id:	2072
Gene Symbol:	ERCC4

ERCC4

CUI:	C0268140
Disease:

Xeroderma pigmentosum, group F

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

Entrez Id:	2072
Gene Symbol:	ERCC4

ERCC4

CUI:	C3808988
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP Q

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:

rs1555468482

Entrez Id:	2072
Gene Symbol:	ERCC4

ERCC4

CUI:	C0268140
Disease:

Xeroderma pigmentosum, group F

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:

rs1555468482

Entrez Id:	2072
Gene Symbol:	ERCC4

ERCC4

CUI:	C3808988
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP Q

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:

rs1555468482

Entrez Id:	2072
Gene Symbol:	ERCC4

ERCC4

CUI:	C0009207
Disease:

Cockayne Syndrome

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