Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		0.100 Biomarker disease HPO
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		0.100 Biomarker phenotype HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 Biomarker phenotype HPO
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		0.100 Biomarker phenotype HPO
CUI: C1836038
Disease: Poor head control
Poor head control 		0.100 Biomarker phenotype HPO
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		0.100 Biomarker phenotype HPO
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy 		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: C1847515
Disease: Paroxysmal involuntary eye movements
Paroxysmal involuntary eye movements 		0.100 Biomarker phenotype HPO
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		0.100 Biomarker phenotype HPO
CUI: C1855483
Disease: Progressive spastic paraplegia
Progressive spastic paraplegia 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		0.100 Biomarker phenotype HPO
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		0.100 Biomarker disease HPO
CUI: C4022748
Disease: Focal T2 hyperintense brainstem lesion
Focal T2 hyperintense brainstem lesion 		0.100 Biomarker phenotype HPO
CUI: C4024609
Disease: Decreased activity of mitochondrial respiratory chain
Decreased activity of mitochondrial respiratory chain 		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: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		0.100 Biomarker phenotype HPO
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.100 Biomarker group HPO
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.640 Biomarker disease CLINGEN cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. 9878551 1998
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 Biomarker disease CLINGEN cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. 9878551 1998