Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908573
rs121908573
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C3541471
Disease:
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.800 GeneticVariation UNIPROT Clinical and biochemical features associated with BCS1L mutation. 22991165 2013
dbSNP: rs121908573
rs121908573
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C3541471
Disease:
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.800 GeneticVariation UNIPROT Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient. 19162478 2009
dbSNP: rs121908573
rs121908573
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C3541471
Disease:
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.800 GeneticVariation UNIPROT Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L. 18628306 2008
dbSNP: rs121908573
rs121908573
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C3541471
Disease:
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.800 GeneticVariation UNIPROT Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. 17403714 2007
dbSNP: rs121908573
rs121908573
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C3541471
Disease:
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.800 GeneticVariation UNIPROT Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. 17314340 2007
dbSNP: rs121908573
rs121908573
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C3541471
Disease:
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.800 GeneticVariation UNIPROT Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene. 12910490 2003
dbSNP: rs121908573
rs121908573
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C3541471
Disease:
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.800 GeneticVariation UNIPROT A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. 11528392 2001
dbSNP: rs121908573
rs121908573
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C3541471
Disease:
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		C 0.800 CausalMutation CLINVAR