TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918665
rs121918665
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3151443
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		0.800 GeneticVariation UNIPROT Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. 21602826 2011
dbSNP: rs121918665
rs121918665
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3151443
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		0.800 GeneticVariation UNIPROT Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. 15885610 2005
dbSNP: rs121918665
rs121918665
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3151443
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		0.800 GeneticVariation UNIPROT Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. 16247010 2005
dbSNP: rs121918665
rs121918665
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C3151443
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		G 0.800 CausalMutation CLINVAR