LYRM7, LYR motif containing 7, 90624

N. diseases: 34; N. variants: 5
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 GeneticVariation group BEFREE Mutations in LYRM7 were previously found in a single patient with a severe form of infantile onset encephalopathy. 26912632 2016
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.120 GeneticVariation group BEFREE A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity. 24014394 2013
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.120 Biomarker group HPO