DisGeNET - a database of gene-disease associations

Photosensitive Trichothiodystrophy, C1866504

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:

rs121913018

ERCC2

0.800

GeneticVariation

UNIPROT

A temperature-sensitive disorder in basal transcription and DNA repair in humans.

11242112

2001

dbSNP:

rs121913020

ERCC2

0.800

GeneticVariation

UNIPROT

A temperature-sensitive disorder in basal transcription and DNA repair in humans.

11242112

2001

dbSNP:

rs121913021

ERCC2

0.800

GeneticVariation

UNIPROT

A temperature-sensitive disorder in basal transcription and DNA repair in humans.

11242112

2001

dbSNP:

rs121913022

ERCC2

0.800

GeneticVariation

UNIPROT

A temperature-sensitive disorder in basal transcription and DNA repair in humans.

11242112

2001

dbSNP:

rs121913026

ERCC2

0.800

GeneticVariation

UNIPROT

A temperature-sensitive disorder in basal transcription and DNA repair in humans.

11242112

2001

dbSNP:

rs376556895

ERCC2

0.800

GeneticVariation

UNIPROT

A temperature-sensitive disorder in basal transcription and DNA repair in humans.

11242112

2001

dbSNP:

rs121913018

ERCC2

0.800

GeneticVariation

UNIPROT

Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.

9758621

1998

dbSNP:

rs121913020

ERCC2

0.800

GeneticVariation

UNIPROT

Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.

9758621

1998

dbSNP:

rs121913021

ERCC2

0.800

GeneticVariation

UNIPROT

Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.

9758621

1998

dbSNP:

rs121913022

ERCC2

0.800

GeneticVariation

UNIPROT

Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.

9758621

1998

dbSNP:

rs121913026

ERCC2

0.800

GeneticVariation

UNIPROT

Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.

9758621

1998

dbSNP:

rs376556895

ERCC2

0.800

GeneticVariation

UNIPROT

Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.

9758621

1998

dbSNP:

rs121913018

ERCC2

0.800

GeneticVariation

UNIPROT

Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

9238033

1997

dbSNP:

rs121913018

ERCC2

0.800

GeneticVariation

UNIPROT

DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.

9195225

1997

dbSNP:

rs121913020

ERCC2

0.800

GeneticVariation

UNIPROT

Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

9238033

1997

dbSNP:

rs121913020

ERCC2

0.800

GeneticVariation

UNIPROT

DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.

9195225

1997

dbSNP:

rs121913021

ERCC2

0.800

GeneticVariation

UNIPROT

Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

9238033

1997

dbSNP:

rs121913021

ERCC2

0.800

GeneticVariation

UNIPROT

DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.

9195225

1997

dbSNP:

rs121913022

ERCC2

0.800

GeneticVariation

UNIPROT

DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.

9195225

1997

dbSNP:

rs121913022

ERCC2

0.800

GeneticVariation

UNIPROT

Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

9238033

1997

dbSNP:

rs121913026

ERCC2

0.800

GeneticVariation

UNIPROT

DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.

9195225

1997

dbSNP:

rs121913026

ERCC2

0.800

GeneticVariation

UNIPROT

Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

9238033

1997

dbSNP:

rs376556895

ERCC2

0.800

GeneticVariation

UNIPROT

DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.

9195225

1997

dbSNP:

rs376556895

ERCC2

0.800

GeneticVariation

UNIPROT

Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

9238033

1997

dbSNP:

rs121913018

ERCC2

0.800

GeneticVariation

UNIPROT

Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.

8571952

1996