NPTX2, neuronal pentraxin 2, 4885

N. diseases: 67; N. variants: 0
Disease: Mitochondrial Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.020 GeneticVariation group BEFREE Though inherited mitochondrial disorders (MIDs) are most well known for their syndromic forms, for which widely known acronyms (MELAS, MERRF, NARP, LHON etc.) have been coined, the vast majority of inherited MIDs presents in a non-syndromic form. 22399423 2012
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.020 Biomarker group BEFREE The importance of mitochondrial biogenesis in the pathogenesis of mitochondrial diseases has been widely recognised but little is known about it with regard to NARP (Neuropathy, Ataxia and Retinitis Pigmentosa) syndrome. 21550418 2011