LYRM7, LYR motif containing 7, 90624

N. diseases: 34; N. variants: 5
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
CUI: C1852372
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) 		0.300 Biomarker disease CTD_human
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
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.100 Biomarker phenotype HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0015310
Disease: Exotropia
Exotropia 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0023380
Disease: Lethargy
Lethargy 		0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.100 Biomarker phenotype HPO
CUI: C0162292
Disease: External Ophthalmoplegia
External Ophthalmoplegia 		0.100 Biomarker disease HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker disease HPO