MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
|
19463981 |
2009 |
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
|
19463981 |
2009 |
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Mitochondrial Diseases
|
0.320 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
Mitochondrial Diseases
|
0.320 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
|
19463981 |
2009 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome.
|
27986404 |
2017 |
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.
|
22644603 |
2012 |
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
|
19463981 |
2009 |
Leukoencephalopathy
|
0.110 |
Biomarker
|
group |
HPO |
|
|
|
Acidosis, Lactic
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Renal tubular acidosis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Anemia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
CUI: |
C0003578 |
Disease: |
Apnea
|
Apnea
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Ataxia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Blepharoptosis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Cardiomyopathy, Dilated
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
Hypertrophic Cardiomyopathy
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Chorea
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Deglutition Disorders
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
Diabetes Mellitus
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
Dyskinetic syndrome
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dystonia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|