TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		0.600 Biomarker disease GENOMICS_ENGLAND The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. 27069254 2016
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		0.600 Biomarker disease GENOMICS_ENGLAND The genetics of dyskeratosis congenita. 22285015 2011
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		0.600 GeneticVariation disease UNIPROT Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. 21602826 2011
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		0.600 Biomarker disease GENOMICS_ENGLAND Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis. 21483807 2011
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		0.600 GeneticVariation disease UNIPROT Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. 18042801 2008
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		0.600 Biomarker disease GENOMICS_ENGLAND Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. 18042801 2008
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		0.600 Biomarker disease GENOMICS_ENGLAND Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations. 18460650 2008
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		0.600 GeneticVariation disease UNIPROT Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. 17785587 2007
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		0.600 Biomarker disease GENOMICS_ENGLAND Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. 17785587 2007
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		0.600 GeneticVariation disease UNIPROT Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. 16332973 2006
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. 15814878 2005
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		0.600 GeneticVariation disease UNIPROT Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. 16247010 2005
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		0.600 GeneticVariation disease UNIPROT Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. 15885610 2005
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		0.600 Biomarker disease CTD_human