Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.600 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 		0.600 GeneticVariation disease CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.600 Biomarker disease GENOMICS_ENGLAND 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 		0.600 Biomarker disease GENOMICS_ENGLAND Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect. 20571988 2010
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.600 GermlineCausalMutation disease ORPHANET A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. 16200211 2005
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.600 GeneticVariation disease CLINVAR A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. 16200211 2005
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.420 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.420 GeneticVariation disease BEFREE One patient presented with Leigh syndrome and had a homozygous deletion in the NDUFAF2 gene, while the second patient had a homozygous mutation in the POLG gene, [c.1399G>A; p.Ala467Thr]. 27344355 2016
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.420 CausalMutation disease CLINVAR High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383 2010
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.420 Biomarker disease GENOMICS_ENGLAND Within the clinical spectrum of Leigh disease, patients with mutations in NDUFAF2 present with a distinct clinical pattern with predominantly brainstem involvement on MRI. 20571988 2010
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.420 AlteredExpression disease BEFREE Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect. 20571988 2010
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.420 CausalMutation disease CLINVAR A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. 16200211 2005
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.420 Biomarker disease GENOMICS_ENGLAND
CUI: C4748768
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 		0.400 CausalMutation disease CLINVAR Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect. 20571988 2010
CUI: C4748768
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 		0.400 Biomarker disease GENOMICS_ENGLAND Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect. 20571988 2010
CUI: C4748768
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 		0.400 Biomarker disease GENOMICS_ENGLAND High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383 2010
CUI: C4748768
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C0752107
Disease: Brain Diseases, Metabolic, Inherited
Brain Diseases, Metabolic, Inherited 		0.300 Biomarker group CTD_human A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. 16200211 2005
CUI: C0752109
Disease: Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic, Inborn 		0.300 Biomarker group CTD_human A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. 16200211 2005
CUI: C0752110
Disease: Central Nervous System Inborn Metabolic Diseases
Central Nervous System Inborn Metabolic Diseases 		0.300 Biomarker group CTD_human A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. 16200211 2005
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.110 Biomarker group BEFREE Homozygous deletion of the Complex-1 associated protein, Ndufaf2, leads to a severe juvenile onset encephalopathy involving degeneration of the substantia nigra and other sub-cortical regions resulting in adolescent lethality. 23702311 2013
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.110 Biomarker group HPO
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation disease GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019