TINF2, TERF1 interacting nuclear factor 2, 26277

N. diseases: 158; N. variants: 20
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1851970
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 		0.310 GeneticVariation disease BEFREE We describe a child who presented with ataxia and pancytopenia and was found to have a heterozygous mutation, c.845G>A (Arg282His) in TINF2, a gene recently reported to be mutated in a subset of patients with autosomal dominant dyskeratosis congenita. 18979121 2008
CUI: C1851970
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 		0.310 Biomarker disease CTD_human