TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151444
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4 		0.300 Biomarker disease GENOMICS_ENGLAND Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. 17785587 2007
CUI: C3151444
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C3151444
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4 		0.300 Biomarker disease GENOMICS_ENGLAND