DisGeNET - a database of gene-disease associations

ERCC2, ERCC excision repair 2, TFIIH core complex helicase subunit, 2068

N. diseases: 499; N. variants: 72

Disease: Xeroderma Pigmentosum, Complementation Group D ×

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:

rs41556519

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

CUI:	C0268138
Disease:

Xeroderma Pigmentosum, Complementation Group D

0.810

GeneticVariation

UNIPROT

dbSNP:

rs121913020

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

CUI:	C0268138
Disease:

Xeroderma Pigmentosum, Complementation Group D

0.800

CausalMutation

CLINVAR

dbSNP:

rs121913024

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

CUI:	C0268138
Disease:

Xeroderma Pigmentosum, Complementation Group D

0.800

CausalMutation

CLINVAR

dbSNP:

rs121913026

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

CUI:	C0268138
Disease:

Xeroderma Pigmentosum, Complementation Group D

0.710

CausalMutation

CLINVAR

dbSNP:

rs752510317

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

CUI:	C0268138
Disease:

Xeroderma Pigmentosum, Complementation Group D

0.710

GeneticVariation

UNIPROT

dbSNP:

rs1340806384

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

CUI:	C0268138
Disease:

Xeroderma Pigmentosum, Complementation Group D

0.700

GeneticVariation

UNIPROT

dbSNP:

rs140522180

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

CUI:	C0268138
Disease:

Xeroderma Pigmentosum, Complementation Group D

0.700

GeneticVariation

UNIPROT

dbSNP:

rs144564120

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

CUI:	C0268138
Disease:

Xeroderma Pigmentosum, Complementation Group D

0.700

CausalMutation

CLINVAR

dbSNP:

rs1568546120

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

CUI:	C0268138
Disease:

Xeroderma Pigmentosum, Complementation Group D

0.700

CausalMutation

CLINVAR

dbSNP:

rs1568546252

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

CUI:	C0268138
Disease:

Xeroderma Pigmentosum, Complementation Group D

0.700

CausalMutation

CLINVAR

dbSNP:

rs762309206

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

CUI:	C0268138
Disease:

Xeroderma Pigmentosum, Complementation Group D

0.700

GeneticVariation

CLINVAR

dbSNP:

rs772572683

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

CUI:	C0268138
Disease:

Xeroderma Pigmentosum, Complementation Group D

0.700

GeneticVariation

UNIPROT

dbSNP:

rs964247601

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

CUI:	C0268138
Disease:

Xeroderma Pigmentosum, Complementation Group D

0.700

CausalMutation

CLINVAR

dbSNP:

rs376556895

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

CUI:	C0268138
Disease:

Xeroderma Pigmentosum, Complementation Group D

0.810

GeneticVariation

UNIPROT

Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.

7585650

1995

dbSNP:

rs121913020

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

CUI:	C0268138
Disease:

Xeroderma Pigmentosum, Complementation Group D

0.800

GeneticVariation

UNIPROT

Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.

7585650

1995

dbSNP:

rs121913024

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

CUI:	C0268138
Disease:

Xeroderma Pigmentosum, Complementation Group D

0.800

GeneticVariation

UNIPROT

Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.

7585650

1995

dbSNP:

rs121913016

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

CUI:	C0268138
Disease:

Xeroderma Pigmentosum, Complementation Group D

0.720

GeneticVariation

UNIPROT

Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.

7585650

1995

dbSNP:

rs121913019

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

CUI:	C0268138
Disease:

Xeroderma Pigmentosum, Complementation Group D

0.710

GeneticVariation

UNIPROT

Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.

7585650

1995

dbSNP:

rs1360631927

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

CUI:	C0268138
Disease:

Xeroderma Pigmentosum, Complementation Group D

0.710

GeneticVariation

UNIPROT

Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.

7585650

1995

dbSNP:

rs121913023

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

CUI:	C0268138
Disease:

Xeroderma Pigmentosum, Complementation Group D

0.700

GeneticVariation

UNIPROT

Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.

7585650

1995

dbSNP:

rs121913025

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

CUI:	C0268138
Disease:

Xeroderma Pigmentosum, Complementation Group D

0.700

GeneticVariation

UNIPROT

Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.

7585650

1995

dbSNP:

rs753641926

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

CUI:	C0268138
Disease:

Xeroderma Pigmentosum, Complementation Group D

0.700

GeneticVariation

UNIPROT

Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.

7585650

1995

dbSNP:

rs771824813

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

CUI:	C0268138
Disease:

Xeroderma Pigmentosum, Complementation Group D

0.700

GeneticVariation

UNIPROT

Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.

7585650

1995

dbSNP:

rs376556895

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

CUI:	C0268138
Disease:

Xeroderma Pigmentosum, Complementation Group D

0.810

GeneticVariation

UNIPROT

Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.

7825573

1995

dbSNP:

rs121913020

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

CUI:	C0268138
Disease:

Xeroderma Pigmentosum, Complementation Group D

0.800

GeneticVariation

UNIPROT

Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.

7825573

1995