Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.030 GeneticVariation group BEFREE Lafora's disease is a neurodegenerative disorder caused by recessive loss-of-function mutations in the <i>EPM2A</i> (laforin glycogen phosphatase) or <i>EPM2B</i> (malin E3 ubiquitin ligase) genes. 30336494 2018
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.030 Biomarker group BEFREE Laforin phosphatase and malin E3 ubiquitin ligase, the two proteins defective in Lafora neurodegenerative disorder, are involved in cellular stress response pathways and are required for the activation of heat shock transcription factor - the heat shock factor 1 (HSF1) - and, consequently, for cellular protection under heat shock. 27975203 2017
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.030 Biomarker group BEFREE Parkin is an E3-ubiquitin ligase belonging to the RBR (RING-InBetweenRING-RING family), and is involved in the neurodegenerative disorder Parkinson's disease. 21694720 2011