Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		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: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C4024609
Disease: Decreased activity of mitochondrial respiratory chain
Decreased activity of mitochondrial respiratory chain 		0.100 Biomarker phenotype HPO
CUI: C1839888
Disease: Decreased activity of the pyruvate dehydrogenase complex
Decreased activity of the pyruvate dehydrogenase complex 		0.100 Biomarker phenotype HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 Biomarker phenotype HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 GeneticVariation group BEFREE Since deficiencies of the mitochondrial complex I are the most common defects in the oxidative phosphorylation system, further studies are required to study the difference between the activities of the two Ndufa10 variants, and their role in the pathogenesis of hypertension. 26648553 2016
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.100 Biomarker disease HPO
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.100 Biomarker disease HPO
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		0.100 Biomarker phenotype HPO
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		0.100 Biomarker phenotype HPO
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.510 Biomarker disease GENOMICS_ENGLAND NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. 21150889 2011
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.510 Biomarker disease CLINGEN Here, we present an additional description of a child with Leigh syndrome harboring a homozygous mutation in NDUFA10, providing insights in clinical, biochemical, and neuroradiologic features for future earlier recognition. 28247337 2017
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.510 Biomarker disease GENOMICS_ENGLAND
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.510 Biomarker disease CLINGEN Accessory subunits are integral for assembly and function of human mitochondrial complex I. 27626371 2016
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.510 GeneticVariation disease BEFREE NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. 21150889 2011