Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554067
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 		0.700 GeneticVariation disease UNIPROT Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1? 26238252 2016
CUI: C3554067
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3554067
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 		0.700 GeneticVariation disease UNIPROT RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement. 25604853 2015
CUI: C3554067
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 		0.700 Biomarker disease GENOMICS_ENGLAND Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25058219 2014
CUI: C3554067
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 		0.700 GeneticVariation disease UNIPROT Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation. 23022099 2012
CUI: C3554067
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 		0.700 Biomarker disease GENOMICS_ENGLAND Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation. 23022099 2012
CUI: C3554067
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 		0.700 GermlineCausalMutation disease ORPHANET An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect. 23022098 2012
CUI: C3554067
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 		0.700 GermlineCausalMutation disease ORPHANET Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation. 23022099 2012
CUI: C3554067
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 		0.700 GeneticVariation disease UNIPROT An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect. 23022098 2012
CUI: C3554067
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 		0.700 CausalMutation disease CLINVAR
CUI: C3554067
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 		0.700 Biomarker disease CTD_human