TERF1, telomeric repeat binding factor 1, 7013

N. diseases: 102; N. variants: 1
Disease: Leukoencephalopathy, Progressive Multifocal ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023524
Disease: Leukoencephalopathy, Progressive Multifocal
Leukoencephalopathy, Progressive Multifocal 		0.020 Biomarker disease BEFREE These included: (1) PML and Sp100 as the constituting components of PML nuclear bodies, (2) telomere repeat binding factors 1 and 2 (TRF1 and TRF2, respectively), (3) the DNA repair protein NBS1 and (4) the SUMO E3 ligase MMS21, as well as the isolated SUMO1 domain, through an interacting domain of another protein factor. 22045732 2011
CUI: C0023524
Disease: Leukoencephalopathy, Progressive Multifocal
Leukoencephalopathy, Progressive Multifocal 		0.020 Biomarker disease BEFREE As a new binding protein of TRF1 (telomeric repeat binding factor 1), PML3 directly interacts with TRF1 and recruits TRF1 to PML bodies in U2OS cells. 19900757 2010