DisGeNET - a database of gene-disease associations

DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2, C3151443

Variant: rs121918665 ×

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:

rs121918665

TERT

0.800

GeneticVariation

UNIPROT

Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.

21602826

2011

dbSNP:

rs121918665

TERT

0.800

GeneticVariation

UNIPROT

Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.

15885610

2005

dbSNP:

rs121918665

TERT

0.800

GeneticVariation

UNIPROT

Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita.

16247010

2005

dbSNP:

rs121918665

TERT

0.800

CausalMutation

CLINVAR