Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54902
Gene Symbol: TTC19
TTC19 		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
Entrez Id: 54902
Gene Symbol: TTC19
TTC19 		0.530 GeneticVariation disease BEFREE Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review. 25899669 2015
Entrez Id: 54902
Gene Symbol: TTC19
TTC19 		0.530 GeneticVariation disease BEFREE Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. 21278747 2011
Entrez Id: 54902
Gene Symbol: TTC19
TTC19 		0.530 Biomarker disease CTD_human
Entrez Id: 54902
Gene Symbol: TTC19
TTC19 		0.530 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 7385
Gene Symbol: UQCRC2
UQCRC2 		0.310 GeneticVariation disease BEFREE UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemia. 28275242 2017
Entrez Id: 27089
Gene Symbol: UQCRQ
UQCRQ 		0.310 GeneticVariation disease BEFREE Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. 18439546 2008
Entrez Id: 27089
Gene Symbol: UQCRQ
UQCRQ 		0.310 Biomarker disease CTD_human
Entrez Id: 7385
Gene Symbol: UQCRC2
UQCRC2 		0.310 Biomarker disease CTD_human
Entrez Id: 1537
Gene Symbol: CYC1
CYC1 		0.300 Biomarker disease CTD_human
Entrez Id: 7381
Gene Symbol: UQCRB
UQCRB 		0.300 Biomarker disease CTD_human
Entrez Id: 84300
Gene Symbol: UQCC2
UQCC2 		0.300 Biomarker disease CTD_human
Entrez Id: 90624
Gene Symbol: LYRM7
LYRM7 		0.300 Biomarker disease CTD_human
Entrez Id: 790955
Gene Symbol: UQCC3
UQCC3 		0.300 Biomarker disease CTD_human
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.110 GeneticVariation disease BEFREE Mutations in BCS1L, a respiratory chain complex III assembly chaperone, constitute a major cause of mitochondrial complex III deficiency and are associated with GRACILE and Björnstad syndromes. 19162478 2009
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.110 GeneticVariation disease CLINVAR Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. 17403714 2007
Entrez Id: 4519
Gene Symbol: CYTB
CYTB 		0.010 GeneticVariation disease BEFREE We report on a 25-year-old patient with isolated mitochondrial complex III deficiency and a new heteroplasmic mutation (T14849C) in the cytochrome b gene. 11891837 2002