TINF2, TERF1 interacting nuclear factor 2, 26277

N. diseases: 158; N. variants: 20
Disease: REVESZ SYNDROME (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1327916
Disease: REVESZ SYNDROME (disorder)
REVESZ SYNDROME (disorder) 		0.730 GeneticVariation disease BEFREE The patient was found to have a TINF2 mutation consistent with a diagnosis of Revesz syndrome, a variant of dyskeratosis congenita. 28866069 2017
CUI: C1327916
Disease: REVESZ SYNDROME (disorder)
REVESZ SYNDROME (disorder) 		0.730 GeneticVariation disease BEFREE We report ophthalmic findings in twins with Revesz syndrome due to a previously unreported mutation in TINF2 and propose that phenotypic and molecular overlaps between DKC spectrum disorders and pediatric retinal vasculopathies may reflect a shared pathophysiologic basis. 28095086 2017
CUI: C1327916
Disease: REVESZ SYNDROME (disorder)
REVESZ SYNDROME (disorder) 		0.730 GermlineCausalMutation disease ORPHANET Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood. 21477109 2012
CUI: C1327916
Disease: REVESZ SYNDROME (disorder)
REVESZ SYNDROME (disorder) 		0.730 Biomarker disease GENOMICS_ENGLAND TIN2 protein dyskeratosis congenita missense mutants are defective in association with telomerase. 21536674 2011
CUI: C1327916
Disease: REVESZ SYNDROME (disorder)
REVESZ SYNDROME (disorder) 		0.730 GeneticVariation disease BEFREE We demonstrate that a fifth gene, TINF2, is mutated in classical DC and, for the first time, in Revesz syndrome. 18252230 2008
CUI: C1327916
Disease: REVESZ SYNDROME (disorder)
REVESZ SYNDROME (disorder) 		0.730 GeneticVariation disease UNIPROT We demonstrate that a fifth gene, TINF2, is mutated in classical DC and, for the first time, in Revesz syndrome. 18252230 2008
CUI: C1327916
Disease: REVESZ SYNDROME (disorder)
REVESZ SYNDROME (disorder) 		0.730 GermlineCausalMutation disease ORPHANET We demonstrate that a fifth gene, TINF2, is mutated in classical DC and, for the first time, in Revesz syndrome. 18252230 2008
CUI: C1327916
Disease: REVESZ SYNDROME (disorder)
REVESZ SYNDROME (disorder) 		0.730 Biomarker disease GENOMICS_ENGLAND We demonstrate that a fifth gene, TINF2, is mutated in classical DC and, for the first time, in Revesz syndrome. 18252230 2008
CUI: C1327916
Disease: REVESZ SYNDROME (disorder)
REVESZ SYNDROME (disorder) 		0.730 Biomarker disease CTD_human We demonstrate that a fifth gene, TINF2, is mutated in classical DC and, for the first time, in Revesz syndrome. 18252230 2008
CUI: C1327916
Disease: REVESZ SYNDROME (disorder)
REVESZ SYNDROME (disorder) 		0.730 GeneticVariation disease CLINVAR
CUI: C1327916
Disease: REVESZ SYNDROME (disorder)
REVESZ SYNDROME (disorder) 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C1327916
Disease: REVESZ SYNDROME (disorder)
REVESZ SYNDROME (disorder) 		0.730 CausalMutation disease CLINVAR
CUI: C1327916
Disease: REVESZ SYNDROME (disorder)
REVESZ SYNDROME (disorder) 		0.730 Biomarker disease GENOMICS_ENGLAND