Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6341
Gene Symbol: SCO1
SCO1 		0.520 Biomarker group GENOMICS_ENGLAND
Entrez Id: 6341
Gene Symbol: SCO1
SCO1 		0.520 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1 		0.510 Biomarker group GENOMICS_ENGLAND
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.510 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.510 Biomarker group GENOMICS_ENGLAND
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1 		0.510 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		0.350 Biomarker group GENOMICS_ENGLAND
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		0.350 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		0.350 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		0.340 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		0.340 Biomarker group 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 		0.330 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 54968
Gene Symbol: TMEM70
TMEM70 		0.330 Biomarker group GENOMICS_ENGLAND
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		0.330 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.330 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		0.330 Biomarker group GENOMICS_ENGLAND
Entrez Id: 54968
Gene Symbol: TMEM70
TMEM70 		0.330 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.330 Biomarker group GENOMICS_ENGLAND
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1 		0.330 Biomarker group GENOMICS_ENGLAND Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. 21596602 2011
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3 		0.320 Biomarker group GENOMICS_ENGLAND
Entrez Id: 79133
Gene Symbol: NDUFAF5
NDUFAF5 		0.320 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3 		0.320 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 79133
Gene Symbol: NDUFAF5
NDUFAF5 		0.320 Biomarker group GENOMICS_ENGLAND Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. 18940309 2008
Entrez Id: 1352
Gene Symbol: COX10
COX10 		0.320 Biomarker group GENOMICS_ENGLAND
Entrez Id: 1352
Gene Symbol: COX10
COX10 		0.320 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016