NPTX2, neuronal pentraxin 2, 4885

N. diseases: 67; N. variants: 0
Disease: MELAS Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.030 Biomarker disease BEFREE There are a set of recurrent point mutations in the mitochondrial DNA (mtDNA) that are responsible for common mitochondrial diseases, including MELAS (mitochondrial encephalopathy, lactic acidosis, stroke-like episodes), MERRF (myoclonic epilepsy and ragged red fibers), LHON (Leber's hereditary optic neuropathy), NARP (neuropathy, ataxia, retinitis pigmentosa), and Leigh syndrome. 22215554 2012
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.030 GeneticVariation disease BEFREE CHOP (C/EBP homologous protein) and ASNS (asparagine synthetase) induction in cybrid cells harboring MELAS and NARP mitochondrial DNA mutations. 17276738 2007
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.030 GeneticVariation disease BEFREE No major deletions or insertions were found and the MERRF, MELAS and NARP mutations were ruled out. 9700597 1998