Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 1 4.8E-03 0 0
CUI: C0002871
Disease: Anemia
Anemia 		847 0 1 1.2E-03 0 0
CUI: C0003578
Disease: Apnea
Apnea 		262 0 1 3.8E-03 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 1 1.7E-03 0 0
CUI: C0428977
Disease: Bradycardia
Bradycardia 		63 0 1 1.6E-02 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 0 1 3.1E-03 0 0
CUI: C1858430
Disease: Death in infancy
Death in infancy 		146 0 1 6.8E-03 0 0
CUI: C4024609
Disease: Decreased activity of mitochondrial respiratory chain
Decreased activity of mitochondrial respiratory chain 		34 0 1 2.9E-02 0 0
CUI: C1839888
Disease: Decreased activity of the pyruvate dehydrogenase complex
Decreased activity of the pyruvate dehydrogenase complex 		35 0 1 2.8E-02 0 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		59 0 1 1.7E-02 0 0
CUI: C1291311
Disease: Deficiency of dehydrogenase
Deficiency of dehydrogenase 		8 0 1 0.11 0 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 0 1 8.8E-03 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 0 1 2.0E-03 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 0 1 2.2E-03 0 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		212 0 1 4.7E-03 0 0
CUI: C0741494
Disease: Elevated total bilirubin
Elevated total bilirubin 		17 0 1 5.6E-02 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 1 2.2E-03 0 0
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		116 0 1 8.5E-03 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 1 1.2E-03 0 0
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		46 0 1 2.1E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 1 5.5E-04 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 0 1 1.3E-03 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 1 1.9E-03 0 0
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		92 0 1 1.1E-02 0 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		560 0 1 1.8E-03 0 0