×
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:
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:
6341
Gene Symbol:
SCO1
SCO1
Mitochondrial Diseases
0.520
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:
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:
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:
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
×
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:
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:
9997
Gene Symbol:
SCO2
SCO2
Mitochondrial Diseases
0.350
Biomarker
GENOMICS_ENGLAND
×
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:
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
×
Entrez Id:
54968
Gene Symbol:
TMEM70
TMEM70
Mitochondrial Diseases
0.330
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
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:
4694
Gene Symbol:
NDUFA1
NDUFA1
Mitochondrial Diseases
0.330
Biomarker
GENOMICS_ENGLAND
Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.
21596602
2011
×
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
×
Entrez Id:
617
Gene Symbol:
BCS1L
BCS1L
Mitochondrial Diseases
0.330
Biomarker
GENOMICS_ENGLAND