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: C3806442
Disease: Myoclonic spasms
Myoclonic spasms 		10 0 1 1.0E-01 0 0
CUI: C4022769
Disease: Small basal ganglia
Small basal ganglia 		10 0 1 1.0E-01 0 0
CUI: C0428975
Disease: Supraventricular Arrhythmia by ECG Finding
Supraventricular Arrhythmia by ECG Finding 		11 0 1 9.1E-02 0 0
CUI: C4021569
Disease: Central retinal vessel vascular tortuosity
Central retinal vessel vascular tortuosity 		11 0 1 9.1E-02 0 0
CUI: C4021570
Disease: Undetectable light- and dark-adapted electroretinogram
Undetectable light- and dark-adapted electroretinogram 		11 0 1 9.1E-02 0 0
CUI: C0271196
Disease: Scotoma, Centrocecal
Scotoma, Centrocecal 		12 0 1 8.3E-02 0 0
CUI: C1708371
Disease: Histiocytoid Cardiomyopathy
Histiocytoid Cardiomyopathy 		12 0 1 8.3E-02 0 0
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		12 0 1 8.3E-02 0 0
CUI: C4021795
Disease: Abnormality of Krebs cycle metabolism
Abnormality of Krebs cycle metabolism 		12 0 1 8.3E-02 0 0
CUI: C4022013
Disease: Multiple glomerular cysts
Multiple glomerular cysts 		12 0 1 8.3E-02 0 0
CUI: C4025585
Disease: Lacticaciduria
Lacticaciduria 		12 0 1 8.3E-02 0 0
CUI: C4024610
Disease: Leg muscle stiffness
Leg muscle stiffness 		13 0 1 7.7E-02 0 0
CUI: C1839532
Disease: Low plasma citrulline
Low plasma citrulline 		14 0 1 7.1E-02 0 0
CUI: C4531122
Disease: Abnormal speech prosody
Abnormal speech prosody 		15 0 1 6.7E-02 0 0
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling 		16 0 1 6.2E-02 0 0
CUI: C0020564
Disease: Hypertrophy
Hypertrophy 		18 0 1 5.6E-02 0 0
CUI: C1398522
Disease: Cleft palate and bilateral cleft lip
Cleft palate and bilateral cleft lip 		18 0 1 5.6E-02 0 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		18 0 1 5.6E-02 0 0
CUI: C0348898
Disease: Irritable bowel syndrome with diarrhea
Irritable bowel syndrome with diarrhea 		19 0 1 5.3E-02 0 0
CUI: C0428974
Disease: Supraventricular arrhythmia
Supraventricular arrhythmia 		19 0 1 5.3E-02 0 0
CUI: C0032915
Disease: Preexcitation Syndrome
Preexcitation Syndrome 		20 0 1 5.0E-02 0 0
CUI: C0154835
Disease: Retinal telangiectasia
Retinal telangiectasia 		20 0 1 5.0E-02 0 0
CUI: C0559106
Disease: Ventricular preexcitation
Ventricular preexcitation 		20 0 1 5.0E-02 0 0
CUI: C1860475
Disease: Retinal vascular tortuosity
Retinal vascular tortuosity 		20 0 1 5.0E-02 0 0
CUI: C1843077
Disease: Segmental peripheral demyelination/remyelination
Segmental peripheral demyelination/remyelination 		21 0 1 4.8E-02 0 0