×
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
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
GENOMICS_ENGLAND
×
Entrez Id:
80224
Gene Symbol:
NUBPL
NUBPL
Mitochondrial Diseases
0.510
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:
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:
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
×
Entrez Id:
79133
Gene Symbol:
NDUFAF5
NDUFAF5
Mitochondrial Diseases
0.320
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
25915
Gene Symbol:
NDUFAF3
NDUFAF3
Mitochondrial Diseases
0.320
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
1352
Gene Symbol:
COX10
COX10
Mitochondrial Diseases
0.320
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
79133
Gene Symbol:
NDUFAF5
NDUFAF5
Mitochondrial Diseases
0.320
Biomarker
GENOMICS_ENGLAND
Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease .
18940309
2008
×
Entrez Id:
25915
Gene Symbol:
NDUFAF3
NDUFAF3
Mitochondrial Diseases
0.320
Biomarker
GENOMICS_ENGLAND