DisGeNET - a database of gene-disease associations

Xeroderma pigmentosum, variant type, C1848410

Gene: POLH ×

Source: UNIPROT ×

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:

rs121908565

POLH ; GTPBP2

0.800

GeneticVariation

UNIPROT

The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta.

10385124

1999

dbSNP:

rs56307355

POLH ; GTPBP2

0.800

GeneticVariation

UNIPROT

The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta.

10385124

1999

dbSNP:

rs1413703153

POLH

0.700

GeneticVariation

UNIPROT

The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta.

10385124

1999

dbSNP:

rs199562456

POLH ; GTPBP2

0.700

GeneticVariation

UNIPROT

The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta.

10385124

1999

dbSNP:

rs756931657

POLH

0.700

GeneticVariation

UNIPROT

The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta.

10385124

1999

dbSNP:

rs758423288

POLH

0.700

GeneticVariation

UNIPROT

The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta.

10385124

1999

dbSNP:

rs121908565

POLH ; GTPBP2

0.800

GeneticVariation

UNIPROT

hRAD30 mutations in the variant form of xeroderma pigmentosum.

10398605

1999

dbSNP:

rs56307355

POLH ; GTPBP2

0.800

GeneticVariation

UNIPROT

hRAD30 mutations in the variant form of xeroderma pigmentosum.

10398605

1999

dbSNP:

rs1413703153

POLH

0.700

GeneticVariation

UNIPROT

hRAD30 mutations in the variant form of xeroderma pigmentosum.

10398605

1999

dbSNP:

rs199562456

POLH ; GTPBP2

0.700

GeneticVariation

UNIPROT

hRAD30 mutations in the variant form of xeroderma pigmentosum.

10398605

1999

dbSNP:

rs756931657

POLH

0.700

GeneticVariation

UNIPROT

hRAD30 mutations in the variant form of xeroderma pigmentosum.

10398605

1999

dbSNP:

rs758423288

POLH

0.700

GeneticVariation

UNIPROT

hRAD30 mutations in the variant form of xeroderma pigmentosum.

10398605

1999

dbSNP:

rs121908565

POLH ; GTPBP2

0.800

GeneticVariation

UNIPROT

Genomic structure, chromosomal localization and identification of mutations in the xeroderma pigmentosum variant (XPV) gene.

11032022

2000

dbSNP:

rs56307355

POLH ; GTPBP2

0.800

GeneticVariation

UNIPROT

Genomic structure, chromosomal localization and identification of mutations in the xeroderma pigmentosum variant (XPV) gene.

11032022

2000

dbSNP:

rs1413703153

POLH

0.700

GeneticVariation

UNIPROT

Genomic structure, chromosomal localization and identification of mutations in the xeroderma pigmentosum variant (XPV) gene.

11032022

2000

dbSNP:

rs199562456

POLH ; GTPBP2

0.700

GeneticVariation

UNIPROT

Genomic structure, chromosomal localization and identification of mutations in the xeroderma pigmentosum variant (XPV) gene.

11032022

2000

dbSNP:

rs756931657

POLH

0.700

GeneticVariation

UNIPROT

Genomic structure, chromosomal localization and identification of mutations in the xeroderma pigmentosum variant (XPV) gene.

11032022

2000

dbSNP:

rs758423288

POLH

0.700

GeneticVariation

UNIPROT

Genomic structure, chromosomal localization and identification of mutations in the xeroderma pigmentosum variant (XPV) gene.

11032022

2000

dbSNP:

rs121908565

POLH ; GTPBP2

0.800

GeneticVariation

UNIPROT

Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation.

11121129

2000

dbSNP:

rs56307355

POLH ; GTPBP2

0.800

GeneticVariation

UNIPROT

Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation.

11121129

2000

dbSNP:

rs1413703153

POLH

0.700

GeneticVariation

UNIPROT

Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation.

11121129

2000

dbSNP:

rs199562456

POLH ; GTPBP2

0.700

GeneticVariation

UNIPROT

Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation.

11121129

2000

dbSNP:

rs756931657

POLH

0.700

GeneticVariation

UNIPROT

Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation.

11121129

2000

dbSNP:

rs758423288

POLH

0.700

GeneticVariation

UNIPROT

Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation.

11121129

2000

dbSNP:

rs121908565

POLH ; GTPBP2

0.800

GeneticVariation

UNIPROT

Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients.

11773631

2002