Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6341
Gene Symbol: SCO1
SCO1
CUI: C0751651
Disease: Mitochondrial Diseases
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
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.520 Biomarker GENOMICS_ENGLAND

Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL
CUI: C0751651
Disease: Mitochondrial Diseases
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
CUI: C0751651
Disease: Mitochondrial Diseases
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
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.510 Biomarker GENOMICS_ENGLAND

Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.510 Biomarker GENOMICS_ENGLAND

Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0751651
Disease: Mitochondrial Diseases
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
CUI: C0751651
Disease: Mitochondrial Diseases
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
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.350 Biomarker GENOMICS_ENGLAND

Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C0751651
Disease: Mitochondrial Diseases
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
CUI: C0751651
Disease: Mitochondrial Diseases
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
CUI: C0751651
Disease: Mitochondrial Diseases
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
CUI: C0751651
Disease: Mitochondrial Diseases
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
CUI: C0751651
Disease: Mitochondrial Diseases
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
CUI: C0751651
Disease: Mitochondrial Diseases
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
CUI: C0751651
Disease: Mitochondrial Diseases
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
CUI: C0751651
Disease: Mitochondrial Diseases
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
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.330 Biomarker GENOMICS_ENGLAND

Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.330 Biomarker GENOMICS_ENGLAND

Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.330 Biomarker GENOMICS_ENGLAND

Entrez Id: 79133
Gene Symbol: NDUFAF5
NDUFAF5
CUI: C0751651
Disease: Mitochondrial Diseases
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
CUI: C0751651
Disease: Mitochondrial Diseases
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
CUI: C0751651
Disease: Mitochondrial Diseases
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
CUI: C0751651
Disease: Mitochondrial Diseases
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
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.320 Biomarker GENOMICS_ENGLAND