DisGeNET - a database of gene-disease associations

X-Linked Dyskeratosis Congenita, C1148551

Gene: DKC1 ×

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:

rs121912288

DKC1 ; SNORA56

0.820

GeneticVariation

UNIPROT

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.

9590285

1998

dbSNP:

rs121912292

DKC1

0.800

GeneticVariation

UNIPROT

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.

9590285

1998

dbSNP:

rs121912293

DKC1

0.800

GeneticVariation

UNIPROT

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.

9590285

1998

dbSNP:

rs121912294

DKC1

0.800

GeneticVariation

UNIPROT

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.

9590285

1998

dbSNP:

rs121912295

DKC1 ; SNORA56

0.800

GeneticVariation

UNIPROT

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.

9590285

1998

dbSNP:

rs121912287

DKC1

0.700

GeneticVariation

UNIPROT

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.

9590285

1998

dbSNP:

rs121912289

DKC1 ; SNORA56

0.700

GeneticVariation

UNIPROT

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.

9590285

1998

dbSNP:

rs121912290

DKC1

0.700

GeneticVariation

UNIPROT

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.

9590285

1998

dbSNP:

rs121912291

DKC1

0.700

GeneticVariation

UNIPROT

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.

9590285

1998

dbSNP:

rs121912296

DKC1

0.700

GeneticVariation

UNIPROT

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.

9590285

1998

dbSNP:

rs121912297

DKC1

0.700

GeneticVariation

UNIPROT

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.

9590285

1998

dbSNP:

rs121912298

DKC1 ; SNORA56

0.700

GeneticVariation

UNIPROT

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.

9590285

1998

dbSNP:

rs121912299

DKC1 ; SNORA56

0.700

GeneticVariation

UNIPROT

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.

9590285

1998

dbSNP:

rs121912300

DKC1 ; SNORA56

0.700

GeneticVariation

UNIPROT

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.

9590285

1998

dbSNP:

rs121912301

DKC1

0.700

GeneticVariation

UNIPROT

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.

9590285

1998

dbSNP:

rs121912302

DKC1

0.700

GeneticVariation

UNIPROT

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.

9590285

1998

dbSNP:

rs121912303

DKC1

0.700

GeneticVariation

UNIPROT

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.

9590285

1998

dbSNP:

rs121912306

DKC1

0.700

GeneticVariation

UNIPROT

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.

9590285

1998

dbSNP:

rs121912288

DKC1 ; SNORA56

0.820

GeneticVariation

UNIPROT

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

10364516

1999

dbSNP:

rs121912292

DKC1

0.800

GeneticVariation

UNIPROT

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

10364516

1999

dbSNP:

rs121912293

DKC1

0.800

GeneticVariation

UNIPROT

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

10364516

1999

dbSNP:

rs121912294

DKC1

0.800

GeneticVariation

UNIPROT

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

10364516

1999

dbSNP:

rs121912295

DKC1 ; SNORA56

0.800

GeneticVariation

UNIPROT

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

10364516

1999

dbSNP:

rs121912287

DKC1

0.700

GeneticVariation

UNIPROT

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

10364516

1999

dbSNP:

rs121912289

DKC1 ; SNORA56

0.700

GeneticVariation

UNIPROT

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

10364516

1999