Disease: Encephalopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.120 Biomarker group BEFREE The deletion mutant mimicking the human early-onset hypertrophic cardiomyopathy and encephalopathy lacked 19-40 residues in NDUFV2 and exhibited a significant reduction in its mitochondrial targeting ability. 21548921 2011
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.120 GeneticVariation group BEFREE Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy. 12754703 2003
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.120 Biomarker group HPO