TELO2, telomere maintenance 2, 9894

N. diseases: 37; N. variants: 7
Disease: YOU-HOOVER-FONG SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310778
Disease: YOU-HOOVER-FONG SYNDROME
YOU-HOOVER-FONG SYNDROME 		0.700 Biomarker disease GENOMICS_ENGLAND Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome. 28944240 2017
CUI: C4310778
Disease: YOU-HOOVER-FONG SYNDROME
YOU-HOOVER-FONG SYNDROME 		0.700 Biomarker disease GENOMICS_ENGLAND Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome. 28944240 2017
CUI: C4310778
Disease: YOU-HOOVER-FONG SYNDROME
YOU-HOOVER-FONG SYNDROME 		0.700 GeneticVariation disease UNIPROT A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex. 27132593 2016
CUI: C4310778
Disease: YOU-HOOVER-FONG SYNDROME
YOU-HOOVER-FONG SYNDROME 		0.700 GermlineCausalMutation disease ORPHANET A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex. 27132593 2016
CUI: C4310778
Disease: YOU-HOOVER-FONG SYNDROME
YOU-HOOVER-FONG SYNDROME 		0.700 CausalMutation disease CLINVAR
CUI: C4310778
Disease: YOU-HOOVER-FONG SYNDROME
YOU-HOOVER-FONG SYNDROME 		0.700 Biomarker disease CTD_human
CUI: C4310778
Disease: YOU-HOOVER-FONG SYNDROME
YOU-HOOVER-FONG SYNDROME 		0.700 GeneticVariation disease CLINVAR