DisGeNET - a database of gene-disease associations

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, C3541471

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121908571

BCS1L

0.800

GeneticVariation

UNIPROT

Clinical and biochemical features associated with BCS1L mutation.

22991165

2013

dbSNP:

rs121908573

BCS1L

0.800

GeneticVariation

UNIPROT

Clinical and biochemical features associated with BCS1L mutation.

22991165

2013

dbSNP:

rs121908574

BCS1L

0.800

GeneticVariation

UNIPROT

Clinical and biochemical features associated with BCS1L mutation.

22991165

2013

dbSNP:

rs121908575

BCS1L ; ZNF142

0.800

GeneticVariation

UNIPROT

Clinical and biochemical features associated with BCS1L mutation.

22991165

2013

dbSNP:

rs121908578

BCS1L

0.800

GeneticVariation

UNIPROT

Clinical and biochemical features associated with BCS1L mutation.

22991165

2013

dbSNP:

rs121908580

BCS1L ; ZNF142

0.800

GeneticVariation

UNIPROT

Clinical and biochemical features associated with BCS1L mutation.

22991165

2013

dbSNP:

rs144885874

BCS1L

0.800

GeneticVariation

UNIPROT

Clinical and biochemical features associated with BCS1L mutation.

22991165

2013

dbSNP:

rs121908571

BCS1L

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

BCS1L

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

BCS1L

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

BCS1L ; ZNF142

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

BCS1L

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

BCS1L ; ZNF142

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

BCS1L

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

BCS1L

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

BCS1L

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

BCS1L

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:

rs121908575

BCS1L ; ZNF142

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:

rs121908578

BCS1L

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:

rs121908580

BCS1L ; ZNF142

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:

rs144885874

BCS1L

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:

rs121908571

BCS1L

0.800

GeneticVariation

UNIPROT

Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.

17314340

2007

dbSNP:

rs121908571

BCS1L

0.800

GeneticVariation

UNIPROT

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.

17403714

2007

dbSNP:

rs121908573

BCS1L

0.800

GeneticVariation

UNIPROT

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.

17403714

2007

dbSNP:

rs121908573

BCS1L

0.800

GeneticVariation

UNIPROT

Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.

17314340

2007