Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554607
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 		0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3554607
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 		0.600 Biomarker disease GENOMICS_ENGLAND Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. 18439546 2008
CUI: C3554607
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 		0.600 GeneticVariation disease UNIPROT Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. 18439546 2008
CUI: C3554607
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3554607
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 		0.600 CausalMutation disease CLINVAR
CUI: C1852372
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) 		0.310 GeneticVariation disease BEFREE Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. 18439546 2008
CUI: C1852372
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) 		0.310 Biomarker disease CTD_human
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.300 Biomarker disease CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900 2015
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.300 Biomarker disease CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900 2015
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker disease CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900 2015
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		0.300 Biomarker disease CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900 2015
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.300 Biomarker disease CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900 2015
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker disease CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900 2015
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 Biomarker disease CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900 2015
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.300 Biomarker disease CLINGEN Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. 18439546 2008
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.300 Biomarker disease CLINGEN Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. 18439546 2008
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker disease CLINGEN Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. 18439546 2008
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		0.300 Biomarker disease CLINGEN Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. 18439546 2008
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.300 Biomarker disease CLINGEN Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. 18439546 2008
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker disease CLINGEN Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. 18439546 2008
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 Biomarker disease CLINGEN Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. 18439546 2008
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0004158
Disease: Athetosis
Athetosis 		0.100 Biomarker phenotype HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 Biomarker disease HPO