Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.300 Biomarker CLINGEN Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. 21278747

2011
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.300 Biomarker CLINGEN Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. 21278747

2011
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. 21278747

2011
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		0.300 Biomarker CLINGEN Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. 21278747

2011
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.300 Biomarker CLINGEN Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. 21278747

2011
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker CLINGEN Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. 21278747

2011
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 Biomarker CLINGEN Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. 21278747

2011
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.300 Biomarker CLINGEN Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient. 24397319

2014
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.300 Biomarker CLINGEN Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient. 24397319

2014
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient. 24397319

2014
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		0.300 Biomarker CLINGEN Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient. 24397319

2014
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.300 Biomarker CLINGEN Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient. 24397319

2014
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker CLINGEN Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient. 24397319

2014
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 Biomarker CLINGEN Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient. 24397319

2014
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.300 Biomarker CLINGEN A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions. 25452764

2014
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.300 Biomarker CLINGEN A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions. 25452764

2014
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions. 25452764

2014
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		0.300 Biomarker CLINGEN A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions. 25452764

2014
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.300 Biomarker CLINGEN A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions. 25452764

2014
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker CLINGEN A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions. 25452764

2014
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 Biomarker CLINGEN A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions. 25452764

2014
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.300 Biomarker CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900

2015
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.300 Biomarker CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900

2015
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900

2015
Entrez Id: 54902
Gene Symbol: TTC19
TTC19
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		0.300 Biomarker CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900

2015