TTC19, tetratricopeptide repeat domain 19, 54902

N. diseases: 78; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1852372
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) 		0.530 GeneticVariation disease BEFREE Novel Homozygous Variant in TTC19 Causing Mitochondrial Complex III Deficiency with Recurrent Stroke-Like Episodes: Expanding the Phenotype. 29961508 2018
CUI: C1852372
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) 		0.530 GeneticVariation disease BEFREE Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review. 25899669 2015
CUI: C1852372
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) 		0.530 GeneticVariation disease BEFREE Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. 21278747 2011
CUI: C1852372
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) 		0.530 Biomarker disease CTD_human
CUI: C1852372
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) 		0.530 Biomarker disease GENOMICS_ENGLAND
CUI: C1852372
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) 		0.530 Biomarker disease GENOMICS_ENGLAND
CUI: C3554605
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 		0.400 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3554605
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 		0.400 Biomarker disease GENOMICS_ENGLAND Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. 21278747 2011
CUI: C3554605
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 		0.400 GeneticVariation disease CLINVAR
CUI: C3554605
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C3554605
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 		0.400 CausalMutation disease CLINVAR
CUI: C3554605
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.320 Biomarker group BEFREE TTC19 deficiency is a progressive neurodegenerative disease associated with isolated mitochondrial respiratory chain (MRC) complex III deficiency and loss-of-function mutations in the TT19 gene in the few patients reported so far. 25887401 2015
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.320 Biomarker group BEFREE TTC19 has been reported to be a causative gene of a neurodegenerative disease in Italian and Portuguese families and to be involved in the pathogenesis of mitochondrial respiratory chain complex III (cIII) deficiency. 24397319 2014
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.320 Biomarker group CTD_human Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. 21278747 2011
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.310 Biomarker group BEFREE One of the mitochondrial disease genes recently discovered associated to encephalopathy and mitochondrial complex III (cIII) deficiency is TTC19. 29243944 2018
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.310 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.310 GeneticVariation group BEFREE TTC19 mutations constitute a rare cause of CIII deficiency and are associated with neurological disorders in childhood and adulthood. 25652355 2015
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.310 Biomarker group CTD_human Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. 21278747 2011
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.310 Biomarker group GENOMICS_ENGLAND
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.300 Biomarker disease CLINGEN Novel Homozygous Variant in TTC19 Causing Mitochondrial Complex III Deficiency with Recurrent Stroke-Like Episodes: Expanding the Phenotype. 29961508 2018
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.300 Biomarker disease CLINGEN Novel Homozygous Variant in TTC19 Causing Mitochondrial Complex III Deficiency with Recurrent Stroke-Like Episodes: Expanding the Phenotype. 29961508 2018
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker disease CLINGEN Novel Homozygous Variant in TTC19 Causing Mitochondrial Complex III Deficiency with Recurrent Stroke-Like Episodes: Expanding the Phenotype. 29961508 2018
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		0.300 Biomarker disease CLINGEN Novel Homozygous Variant in TTC19 Causing Mitochondrial Complex III Deficiency with Recurrent Stroke-Like Episodes: Expanding the Phenotype. 29961508 2018
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.300 Biomarker disease CLINGEN Novel Homozygous Variant in TTC19 Causing Mitochondrial Complex III Deficiency with Recurrent Stroke-Like Episodes: Expanding the Phenotype. 29961508 2018