×
Entrez Id: 6341
Gene Symbol: SCO1
SCO1
Mitochondrial Diseases
0.520
Biomarker
CTD_human
Human Sco1 functional studies and pathological implications of the P174L mutant.
17182746 2007
×
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1
Mitochondrial Diseases
0.510
Biomarker
CTD_human
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
20818383 2010
×
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL
Mitochondrial Diseases
0.510
Biomarker
CTD_human
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
20818383 2010
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Mitochondrial Diseases
0.500
Biomarker
CTD_human
Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma.
18716558 2008
×
Entrez Id: 92667
Gene Symbol: MGME1
MGME1
Mitochondrial Diseases
0.330
Biomarker
CTD_human
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease .
23313956 2013
×
Entrez Id: 6648
Gene Symbol: SOD2
SOD2
Mitochondrial Diseases
0.310
Biomarker
CTD_human
Manganese superoxide dismutase protects mitochondrial complex I against adriamycin-induced cardiomyopathy in transgenic mice.
9917329 1999
×
Entrez Id: 8996
Gene Symbol: NOL3
NOL3
Mitochondrial Diseases
0.300
Therapeutic
CTD_human
ARC is a critical cardiomyocyte survival switch in doxorubicin cardiotoxicity.
19139834 2009
×
Entrez Id: 4843
Gene Symbol: NOS2
NOS2
Mitochondrial Diseases
0.300
Therapeutic
CTD_human
The protective roles of nitric oxide and superoxide dismutase in adriamycin-induced cardiotoxicity.
16157314 2006
×
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
Mitochondrial Diseases
0.300
Biomarker
CTD_human
Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice.
18818194 2009
×
Entrez Id: 6341
Gene Symbol: SCO1
SCO1
Mitochondrial Diseases
0.520
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 6341
Gene Symbol: SCO1
SCO1
Mitochondrial Diseases
0.520
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308 2016
×
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1
Mitochondrial Diseases
0.510
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL
Mitochondrial Diseases
0.510
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308 2016
×
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL
Mitochondrial Diseases
0.510
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1
Mitochondrial Diseases
0.510
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308 2016
×
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
Mitochondrial Diseases
0.350
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
Mitochondrial Diseases
0.350
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308 2016
×
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
Mitochondrial Diseases
0.350
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308 2016
×
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
Mitochondrial Diseases
0.340
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308 2016
×
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
Mitochondrial Diseases
0.340
Biomarker
GENOMICS_ENGLAND
Only a handful of reports describe inherited SDH gene defects as a cause of paediatric mitochondrial disease , involving either SDHA (Leigh syndrome, cardiomyopathy) or SDHAF1 (infantile leukoencephalopathy).
22972948 2012
×
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
Mitochondrial Diseases
0.340
Biomarker
GENOMICS_ENGLAND
Only a handful of reports describe inherited SDH gene defects as a cause of paediatric mitochondrial disease , involving either SDHA (Leigh syndrome, cardiomyopathy) or SDHAF1 (infantile leukoencephalopathy).
22972948 2012
×
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1
Mitochondrial Diseases
0.330
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308 2016
×
Entrez Id: 54968
Gene Symbol: TMEM70
TMEM70
Mitochondrial Diseases
0.330
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
Mitochondrial Diseases
0.330
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308 2016
×
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
Mitochondrial Diseases
0.330
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308 2016