TINF2, TERF1 interacting nuclear factor 2, 26277

N. diseases: 158; N. variants: 20
Disease: Inherited bone marrow failure syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2986691
Disease: Inherited bone marrow failure syndrome
Inherited bone marrow failure syndrome 		0.010 GeneticVariation disease BEFREE Remarkably, the PTVML HP1-binding site is embedded in the recently identified cluster of mutations in TIN2 that gives rise to dyskeratosis congenita (DC), an inherited bone marrow failure syndrome caused by defects in telomere maintenance. 21865325 2011