DisGeNET - a database of gene-disease associations

Xeroderma pigmentosum, group G, C0268141

Gene: BIVM-ERCC5 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121434575

ERCC5 ; BIVM-ERCC5

0.800

CausalMutation

CLINVAR

dbSNP:

rs267607280

ERCC5 ; BIVM-ERCC5

0.800

CausalMutation

CLINVAR

dbSNP:

rs267607281

ERCC5 ; BIVM-ERCC5

0.800

CausalMutation

CLINVAR

dbSNP:

rs121434570

ERCC5 ; BIVM-ERCC5

0.700

CausalMutation

CLINVAR

dbSNP:

rs121434577

ERCC5 ; BIVM-ERCC5

0.700

CausalMutation

CLINVAR

dbSNP:

rs1244074570

ERCC5 ; BIVM-ERCC5

0.700

CausalMutation

CLINVAR

dbSNP:

rs1244074570

ERCC5 ; BIVM-ERCC5

0.700

GeneticVariation

CLINVAR

dbSNP:

rs752661599

ERCC5 ; BIVM-ERCC5

0.700

CausalMutation

CLINVAR

dbSNP:

rs786200919

ERCC5 ; BIVM-ERCC5

0.700

CausalMutation

CLINVAR

dbSNP:

rs786200920

ERCC5 ; BIVM-ERCC5

0.700

CausalMutation

CLINVAR

dbSNP:

rs2296147

ERCC5 ; BIVM-ERCC5

0.040

GeneticVariation

BEFREE

XPG rs2296147 polymorphism could be predictive of unfavorable prognosis of CRC patients.

26887052

2016

dbSNP:

rs2094258

ERCC5 ; BIVM-ERCC5

0.050

GeneticVariation

BEFREE

Xeroderma pigmentosum group G rs2094258 polymorphism was associated with an increased risk of GC in a Chinese population.

29732643

2018

dbSNP:

rs121434575

ERCC5 ; BIVM-ERCC5

0.800

GeneticVariation

UNIPROT

A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.

9096355

1997

dbSNP:

rs267607280

ERCC5 ; BIVM-ERCC5

0.800

GeneticVariation

UNIPROT

A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.

9096355

1997

dbSNP:

rs267607281

ERCC5 ; BIVM-ERCC5

0.800

GeneticVariation

UNIPROT

A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.

9096355

1997

dbSNP:

rs121434576

ERCC5 ; BIVM-ERCC5

0.710

GeneticVariation

UNIPROT

A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.

9096355

1997

dbSNP:

rs121434571

ERCC5 ; BIVM-ERCC5

0.700

GeneticVariation

UNIPROT

A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.

9096355

1997

dbSNP:

rs121434574

ERCC5 ; BIVM-ERCC5

0.700

GeneticVariation

UNIPROT

A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.

9096355

1997

dbSNP:

rs121434575

ERCC5 ; BIVM-ERCC5

0.800

GeneticVariation

UNIPROT

A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

10447254

1999

dbSNP:

rs267607280

ERCC5 ; BIVM-ERCC5

0.800

GeneticVariation

UNIPROT

A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

10447254

1999

dbSNP:

rs267607281

ERCC5 ; BIVM-ERCC5

0.800

GeneticVariation

UNIPROT

A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

10447254

1999

dbSNP:

rs121434576

ERCC5 ; BIVM-ERCC5

0.710

GeneticVariation

UNIPROT

A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

10447254

1999

dbSNP:

rs121434571

ERCC5 ; BIVM-ERCC5

0.700

GeneticVariation

UNIPROT

A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

10447254

1999

dbSNP:

rs121434574

ERCC5 ; BIVM-ERCC5

0.700

GeneticVariation

UNIPROT

A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

10447254

1999

dbSNP:

rs929424117

ERCC5 ; BIVM-ERCC5

0.010

GeneticVariation

BEFREE

Genetic investigation shows that both patients were carriers of an homozygous T to C transition at the nucleotide position c.2333, causing the leucine to proline amino acid change at the position 778 (p.Leu778Pro) of the <i>ERCC5</i> gene, and resulting in an XP-G phenotype.

30838033

2019