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: C0085633
Disease: Mood swings
Mood swings 		171 0 28 0.16 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 30 0.15 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 29 0.13 0 0
CUI: C0034345
Disease: Pyruvate Dehydrogenase Complex Deficiency Disease
Pyruvate Dehydrogenase Complex Deficiency Disease 		18 0 6 0.13 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 12 0.12 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 21 25 0.11 2 9.1E-02
CUI: C0003578
Disease: Apnea
Apnea 		262 0 29 0.11 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 11 9.0E-02 0 0
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		112 0 12 8.9E-02 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 16 8.8E-02 0 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		189 0 18 8.7E-02 0 0
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		121 0 11 7.6E-02 0 0
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		9 0 3 7.3E-02 0 0
CUI: C4025276
Disease: Congenital lactic acidosis
Congenital lactic acidosis 		12 0 3 6.8E-02 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 0 31 6.8E-02 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 29 6.7E-02 0 0
CUI: C0023380
Disease: Lethargy
Lethargy 		160 0 12 6.6E-02 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 0 28 6.5E-02 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 0 19 6.3E-02 0 0
CUI: C0005122
Disease: Beriberi
Beriberi 		16 0 3 6.2E-02 0 0
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		16 0 3 6.2E-02 0 0
CUI: C0039841
Disease: Thiamine Deficiency
Thiamine Deficiency 		17 0 3 6.1E-02 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 0 30 6.1E-02 0 0
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		53 0 5 6.0E-02 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 32 5.9E-02 0 0