TERT, telomerase reverse transcriptase, 7015

N. diseases: 525; N. variants: 37
Disease: HOYERAAL-HREIDARSSON SYNDROME ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME 		0.620 GeneticVariation disease BEFREE We describe 2 sibling HHS cases caused by a homozygous mutation (p.T567M) within the TERT T motif. 23538340 2013
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME 		0.620 GeneticVariation disease BEFREE Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. 17785587 2007