Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME
0.500 GermlineCausalMutation disease ORPHANET Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita. 22078571 2012
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME
0.500 GermlineCausalMutation disease ORPHANET Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2. 21199492 2012
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME
0.500 GermlineCausalMutation disease ORPHANET TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. 18669893 2008
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME
0.500 Biomarker disease GENOMICS_ENGLAND TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. 18669893 2008