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: C1847515
Disease: Paroxysmal involuntary eye movements
Paroxysmal involuntary eye movements 		39 0 20 0.12 0 0
CUI: C0003578
Disease: Apnea
Apnea 		262 0 44 0.12 0 0
CUI: C4022748
Disease: Focal T2 hyperintense brainstem lesion
Focal T2 hyperintense brainstem lesion 		33 0 19 0.12 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 0 64 0.12 0 0
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		136 0 30 0.12 0 0
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy 		37 0 19 0.12 0 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		59 0 21 0.12 0 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		189 0 34 0.11 0 0
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		53 11 20 0.11 2 1.6E-02
CUI: C0015930
Disease: Fetal Distress
Fetal Distress 		44 0 19 0.11 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 60 0.11 0 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		560 635 70 0.11 1 1.3E-03
CUI: C0085633
Disease: Mood swings
Mood swings 		171 0 31 0.11 0 0
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		100 46 24 0.11 5 3.2E-02
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		18 0 15 0.10 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 44 0.10 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 20 0.10 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 15 42 0.10 2 1.6E-02
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 22 1.0E-01 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 51 64 9.9E-02 2 1.2E-02
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		65 44 18 9.4E-02 3 1.9E-02
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		43 0 16 9.4E-02 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 26 9.3E-02 0 0
CUI: C0268630
Disease: Hyper-beta-alaninemia
Hyper-beta-alaninemia 		33 0 15 9.3E-02 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 54 53 9.2E-02 1 6.0E-03