Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy
0.020 Biomarker disease BEFREE Importantly, reducing p62 levels markedly increases SMN and its binding partner gemin2, promotes MN survival, and extends lifespan in fly and mouse SMA models, revealing p62 as a potential new therapeutic target for the treatment of SMA. 29672276 2018
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy
0.020 Biomarker disease BEFREE The TFIIH polypeptide composition as well as transcription and DNA repair activities are normal in patients lacking the p44t gene on both mutant chromosomes, suggesting that the p44t gene is not critical for the development of SMA. 8981949 1997