Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker disease CLINGEN Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. 25044680 2014
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 Biomarker disease CLINGEN Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. 25044680 2014
CUI: C0751267
Disease: Encephalopathy, Subacute Necrotizing, Infantile
Encephalopathy, Subacute Necrotizing, Infantile 		0.300 Biomarker disease CTD_human Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. 19503089 2009
CUI: C0751268
Disease: Encephalopathy, Subacute Necrotizing, Juvenile
Encephalopathy, Subacute Necrotizing, Juvenile 		0.300 Biomarker disease CTD_human Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. 19503089 2009
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.300 Biomarker disease CLINGEN Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. 19503089 2009
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker disease CLINGEN Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. 19503089 2009
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		0.300 Biomarker disease CLINGEN Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. 19503089 2009
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker disease CLINGEN Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. 19503089 2009
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 Biomarker disease CLINGEN Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. 19503089 2009
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.100 Biomarker phenotype HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0003578
Disease: Apnea
Apnea 		0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0017979
Disease: Glycosuria
Glycosuria 		0.100 Biomarker phenotype HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 Biomarker group HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.100 Biomarker disease HPO
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.100 Biomarker disease HPO