Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28937590
rs28937590
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C1864002
Disease:
GRACILE SYNDROME (disorder) 		G 0.820 CausalMutation CLINVAR Nuclear gene mutations as the cause of mitochondrial complex III deficiency. 25914718 2015
dbSNP: rs28937590
rs28937590
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C1864002
Disease:
GRACILE SYNDROME (disorder) 		0.820 GeneticVariation BEFREE Thus, the novel clinical implication of this study is to screen for BCS1L mutations only if CIII is dysfunctioning or lacking Rieske protein, and to assess 232A-->G mutation in cases with GRACILE syndrome. 18386115 2008
dbSNP: rs28937590
rs28937590
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C1864002
Disease:
GRACILE SYNDROME (disorder) 		0.820 GeneticVariation UNIPROT Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. 17314340 2007
dbSNP: rs28937590
rs28937590
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C1864002
Disease:
GRACILE SYNDROME (disorder) 		0.820 GeneticVariation BEFREE In the present study, we report the molecular defect causing this metabolic disorder, by identifying a homozygous missense mutation that results in an S78G amino acid change in the BCS1L gene in Finnish patients with GRACILE syndrome, as well as five different mutations in three British infants. 12215968 2002
dbSNP: rs28937590
rs28937590
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C1864002
Disease:
GRACILE SYNDROME (disorder) 		0.820 GeneticVariation UNIPROT In the present study, we report the molecular defect causing this metabolic disorder, by identifying a homozygous missense mutation that results in an S78G amino acid change in the BCS1L gene in Finnish patients with GRACILE syndrome, as well as five different mutations in three British infants. 12215968 2002
dbSNP: rs28937590
rs28937590
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C1864002
Disease:
GRACILE SYNDROME (disorder) 		G 0.820 CausalMutation CLINVAR In the present study, we report the molecular defect causing this metabolic disorder, by identifying a homozygous missense mutation that results in an S78G amino acid change in the BCS1L gene in Finnish patients with GRACILE syndrome, as well as five different mutations in three British infants. 12215968 2002
dbSNP: rs121908571
rs121908571
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 Clinical and biochemical features associated with BCS1L mutation. 22991165 2013
dbSNP: rs121908574
rs121908574
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: rs121908575
rs121908575
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
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: rs121908577
rs121908577
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0266006
Disease:
Pili torti-deafness syndrome 		0.800 GeneticVariation UNIPROT Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome. 24172246 2013
dbSNP: rs121908578
rs121908578
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: rs121908580
rs121908580
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
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: rs144885874
rs144885874
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: rs587777278
rs587777278
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0266006
Disease:
Pili torti-deafness syndrome 		0.800 GeneticVariation UNIPROT Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome. 24172246 2013
dbSNP: rs121908571
rs121908571
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 Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient. 19162478 2009
dbSNP: rs121908574
rs121908574
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: rs121908575
rs121908575
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
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: rs121908578
rs121908578
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: rs121908580
rs121908580
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
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: rs144885874
rs144885874
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: rs121908571
rs121908571
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 Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L. 18628306 2008
dbSNP: rs121908574
rs121908574
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