LYRM7, LYR motif containing 7, 90624

N. diseases: 34; N. variants: 5
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014440
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 		0.600 Biomarker disease GENOMICS_ENGLAND Mitochondrial leukoencephalopathies: A border zone between acquired and inherited white matter disorders in children? 29353736 2018
CUI: C4014440
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 		0.600 Biomarker disease GENOMICS_ENGLAND Mitochondrial leukoencephalopathies: A border zone between acquired and inherited white matter disorders in children? 29353736 2018
CUI: C4014440
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 		0.600 Biomarker disease GENOMICS_ENGLAND LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study. 28694194 2017
CUI: C4014440
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 		0.600 Biomarker disease GENOMICS_ENGLAND Severe respiratory complex III defect prevents liver adaptation to prolonged fasting. 27151179 2016
CUI: C4014440
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 		0.600 Biomarker disease GENOMICS_ENGLAND LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance. 26912632 2016
CUI: C4014440
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 		0.600 Biomarker disease GENOMICS_ENGLAND Update on Leukodystrophies: A Historical Perspective and Adapted Definition. 27564080 2016
CUI: C4014440
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 		0.600 GeneticVariation disease UNIPROT A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity. 24014394 2013
CUI: C4014440
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 		0.600 CausalMutation disease CLINVAR
CUI: C4014440
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 		0.600 Biomarker disease GENOMICS_ENGLAND