TTC19, tetratricopeptide repeat domain 19, 54902

N. diseases: 78; N. variants: 7
Disease: Mitochondrial Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.310 Biomarker group GENOMICS_ENGLAND