Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.330 Biomarker GENOMICS_ENGLAND

Entrez Id: 1352
Gene Symbol: COX10
COX10
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.320 Biomarker GENOMICS_ENGLAND

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: 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: 1355
Gene Symbol: COX15
COX15
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 1327
Gene Symbol: COX4I1
COX4I1
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.300 Biomarker GENOMICS_ENGLAND

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: 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: 1340
Gene Symbol: COX6B1
COX6B1
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 22868
Gene Symbol: FASTKD2
FASTKD2
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.300 Biomarker GENOMICS_ENGLAND

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: 55572
Gene Symbol: FOXRED1
FOXRED1
CUI: C0751651
Disease: Mitochondrial Diseases
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
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.510 Biomarker GENOMICS_ENGLAND

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: 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: 92667
Gene Symbol: MGME1
MGME1
CUI: C0751651
Disease: Mitochondrial Diseases
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: 4358
Gene Symbol: MPV17
MPV17
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.300 Biomarker CTD_human Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice. 18818194

2009
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: 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: 4705
Gene Symbol: NDUFA10
NDUFA10
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.300 Biomarker GENOMICS_ENGLAND

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