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 GermlineCausalMutation disease ORPHANET A family with Hoyeraal-Hreidarsson syndrome and four variants in two genes of the telomerase core complex. 23335200 2013
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME
0.620 GermlineCausalMutation disease ORPHANET Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. 17785587 2007
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
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME
0.620 Biomarker disease CTD_human Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. 17785587 2007
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME
0.620 Biomarker disease GENOMICS_ENGLAND Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. 17785587 2007