Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151753
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3151753
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 		0.700 GeneticVariation disease UNIPROT A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease. 26173962 2016
CUI: C3151753
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 		0.700 GeneticVariation disease UNIPROT Structure/Function Relations in AIFM1 Variants Associated with Neurodegenerative Disorders. 27178839 2016
CUI: C3151753
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 		0.700 GeneticVariation disease UNIPROT Interaction between AIF and CHCHD4 Regulates Respiratory Chain Biogenesis. 26004228 2015
CUI: C3151753
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 		0.700 Biomarker disease GENOMICS_ENGLAND Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. 23217327 2012
CUI: C3151753
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 		0.700 GeneticVariation disease UNIPROT Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing. 22019070 2011
CUI: C3151753
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 		0.700 Biomarker disease GENOMICS_ENGLAND Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. 20362274 2010
CUI: C3151753
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 		0.700 Biomarker disease GENOMICS_ENGLAND Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. 20362274 2010
CUI: C3151753
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 		0.700 GeneticVariation disease UNIPROT Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. 20362274 2010
CUI: C3151753
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 		0.700 GermlineCausalMutation disease ORPHANET Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. 20362274 2010
CUI: C3151753
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 		0.700 Biomarker disease GENOMICS_ENGLAND X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder. 3856385 1985
CUI: C3151753
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 		0.700 CausalMutation disease CLINVAR
CUI: C3151753
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 		0.700 Biomarker disease CTD_human
CUI: C3151753
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 		0.700 GeneticVariation disease CLINVAR