TTC19, tetratricopeptide repeat domain 19, 54902

N. diseases: 78; N. variants: 7
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) ×
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