Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748790
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
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
CUI: C4748790
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
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
CUI: C4748790
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 		0.600 CausalMutation disease CLINVAR
CUI: C4748790
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
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
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
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
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
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
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
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
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
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
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C0751651
Disease: Mitochondrial Diseases
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
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.320 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0751651
Disease: Mitochondrial Diseases
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
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.320 Biomarker group GENOMICS_ENGLAND
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.110 GeneticVariation group BEFREE NDUFAF3 variants that disrupt mitochondrial complex I assembly may associate with cavitating leukoencephalopathy. 29344937 2018
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.110 Biomarker group HPO
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.100 Biomarker phenotype HPO
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis 		0.100 Biomarker phenotype HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0003578
Disease: Apnea
Apnea 		0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 Biomarker group HPO
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.100 Biomarker disease HPO
CUI: C0008489
Disease: Chorea
Chorea 		0.100 Biomarker phenotype HPO