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, 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
CausalMutation
disease
CLINVAR
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
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
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
GermlineCausalMutation
disease
ORPHANET
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
BEFREE
NDUFAF3 is an assembly factor of mitochondrial respiratory chain complex I. Variants in NDUFAF3 have been identified as a cause of severe multisystem mitochondrial disease .
27986404
2017
Mitochondrial Diseases
0.320
Biomarker
group
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
Mitochondrial Diseases
0.320
GeneticVariation
group
BEFREE
Mutations in NDUFAF3 (C3ORF60 ), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease .
19463981
2009
Mitochondrial Diseases
0.320
Biomarker
group
GENOMICS_ENGLAND
Leukoencephalopathy
0.110
GeneticVariation
group
BEFREE
NDUFAF3 variants that disrupt mitochondrial complex I assembly may associate with cavitating leukoencephalopathy .
29344937
2018
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