DisGeNET - a database of gene-disease associations

DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4, C3151444

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	7015
Gene Symbol:	TERT

TERT

0.300

Biomarker

disease

GENOMICS_ENGLAND

Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.

2007

Entrez Id:	7015
Gene Symbol:	TERT

TERT

0.300

Biomarker

disease

GENOMICS_ENGLAND