AQP4, aquaporin 4, 361

N. diseases: 311; N. variants: 9
Disease: Mitochondrial DNA mutation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0948444
Disease: Mitochondrial DNA mutation
Mitochondrial DNA mutation 		0.010 Biomarker disease BEFREE A case of neuromyelitis optica harboring both anti-aquaporin-4 antibodies and a pathogenic mitochondrial DNA mutation for Leber's hereditary optic neuropathy. 24263387 2014