TINF2, TERF1 interacting nuclear factor 2, 26277

N. diseases: 158; N. variants: 20
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151445
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 		0.700 CausalMutation disease CLINVAR Novel variants in Nordic patients referred for genetic testing of telomere-related disorders. 29483670 2018
CUI: C3151445
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 		0.700 Biomarker disease GENOMICS_ENGLAND TIN2 protein dyskeratosis congenita missense mutants are defective in association with telomerase. 21536674 2011
CUI: C3151445
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 		0.700 GeneticVariation disease UNIPROT TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. 18252230 2008
CUI: C3151445
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 		0.700 Biomarker disease GENOMICS_ENGLAND TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. 18252230 2008
CUI: C3151445
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 		0.700 Biomarker disease GENOMICS_ENGLAND Ataxia and pancytopenia caused by a mutation in TINF2. 18979121 2008
CUI: C3151445
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 		0.700 Biomarker disease CTD_human
CUI: C3151445
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 		0.700 GeneticVariation disease CLINVAR
CUI: C3151445
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3151445
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 		0.700 Biomarker disease GENOMICS_ENGLAND