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: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 82 8.4E-02 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 34 8.3E-02 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 85 8.2E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 94 8.2E-02 1 4.0E-03
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 27 8.2E-02 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 111 80 8.1E-02 3 1.6E-02
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy 		37 0 24 8.1E-02 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		546 0 62 8.1E-02 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 46 8.1E-02 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 28 7.9E-02 0 0
CUI: C4022748
Disease: Focal T2 hyperintense brainstem lesion
Focal T2 hyperintense brainstem lesion 		33 0 23 7.8E-02 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 37 7.8E-02 0 0
CUI: C1847515
Disease: Paroxysmal involuntary eye movements
Paroxysmal involuntary eye movements 		39 0 23 7.7E-02 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 58 7.6E-02 0 0
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		512 509 56 7.6E-02 1 1.7E-03
CUI: C0015930
Disease: Fetal Distress
Fetal Distress 		44 0 23 7.5E-02 0 0
CUI: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy 		32 0 22 7.5E-02 0 0
CUI: C4024609
Disease: Decreased activity of mitochondrial respiratory chain
Decreased activity of mitochondrial respiratory chain 		34 0 22 7.4E-02 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 41 7.4E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 86 7.4E-02 3 4.5E-03
CUI: C0003578
Disease: Apnea
Apnea 		262 0 37 7.3E-02 0 0
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		233 0 35 7.3E-02 0 0
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		92 0 25 7.1E-02 0 0
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		351 81 42 7.1E-02 1 6.1E-03
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		83 20 24 7.0E-02 1 9.7E-03