Source: CURATED

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 CTD_human Human Sco1 functional studies and pathological implications of the P174L mutant. 17182746

2007

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 CTD_human High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010

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

Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.500 Biomarker CTD_human Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma. 18716558

2008

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: 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: 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