E2F1, E2F transcription factor 1, 1869

N. diseases: 324; N. variants: 7
Disease: Linear atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		0.010 Biomarker disease BEFREE This retrograde mitochondrial-stress relay is operative in vivo, as transgenic-mtTFB1 mice exhibit enhanced 12S rRNA methylation in multiple tissues, increased E2F1 and apoptosis in the stria vascularis and spiral ganglion neurons of the inner ear, and progressive E2F1-dependent hearing loss. 22341444 2012