Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 126328
Gene Symbol: NDUFA11
NDUFA11
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 4720
Gene Symbol: NDUFS2
NDUFS2
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 4726
Gene Symbol: NDUFS6
NDUFS6
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 1355
Gene Symbol: COX15
COX15
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 54949
Gene Symbol: SDHAF2
SDHAF2
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 51204
Gene Symbol: TACO1
TACO1
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 10128
Gene Symbol: LRPPRC
LRPPRC
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 91647
Gene Symbol: ATPAF2
ATPAF2
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 4705
Gene Symbol: NDUFA10
NDUFA10
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 22868
Gene Symbol: FASTKD2
FASTKD2
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 1340
Gene Symbol: COX6B1
COX6B1
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 644096
Gene Symbol: SDHAF1
SDHAF1
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 4695
Gene Symbol: NDUFA2
NDUFA2
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 6391
Gene Symbol: SDHC
SDHC
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 51079
Gene Symbol: NDUFA13
NDUFA13
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.300 Biomarker GENOMICS_ENGLAND Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability. 25901006

2015

Entrez Id: 7381
Gene Symbol: UQCRB
UQCRB
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.300 Biomarker GENOMICS_ENGLAND Functional inhibition of UQCRB suppresses angiogenesis in zebrafish. 23454382

2013

Entrez Id: 84701
Gene Symbol: COX4I2
COX4I2
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.300 Biomarker GENOMICS_ENGLAND High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency. 22592081

2012

Entrez Id: 91647
Gene Symbol: ATPAF2
ATPAF2
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.300 Biomarker GENOMICS_ENGLAND Defining the pathogenesis of the human Atp12p W94R mutation using a Saccharomyces cerevisiae yeast model. 19933271

2010

Entrez Id: 91647
Gene Symbol: ATPAF2
ATPAF2
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.300 Biomarker GENOMICS_ENGLAND Defining the pathogenesis of the human Atp12p W94R mutation using a Saccharomyces cerevisiae yeast model. 19933271

2010

Entrez Id: 4702
Gene Symbol: NDUFA8
NDUFA8
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.300 Biomarker GENOMICS_ENGLAND Clinical and molecular findings in children with complex I deficiency. 15576045

2004

Entrez Id: 4725
Gene Symbol: NDUFS5
NDUFS5
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.300 Biomarker GENOMICS_ENGLAND