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: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 1 1.9E-02 0 0
CUI: C4025244
Disease: Abnormal atrioventricular conduction
Abnormal atrioventricular conduction 		7 0 1 2.4E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 4 4.3E-03 0 0
CUI: C4476566
Disease: Abnormal brain choline level by MRS
Abnormal brain choline level by MRS 		1 0 1 2.9E-02 0 0
CUI: C4022749
Disease: Abnormal brainstem MRI signal intensity
Abnormal brainstem MRI signal intensity 		5 0 1 2.6E-02 0 0
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		9 0 3 7.3E-02 0 0
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		7 0 1 2.4E-02 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		59 0 1 1.1E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 1 9.6E-03 0 0
CUI: C4025706
Disease: Abnormal globus pallidus morphology
Abnormal globus pallidus morphology 		10 0 2 4.7E-02 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		39 0 12 0.19 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		45 0 3 3.9E-02 0 0
CUI: C1837388
Disease: Abnormal pattern of respiration
Abnormal pattern of respiration 		20 0 3 5.8E-02 0 0
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement 		17 0 2 4.0E-02 0 0
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		21 0 2 3.7E-02 0 0
CUI: C4021243
Disease: Abnormality of thalamus morphology
Abnormality of thalamus morphology 		10 0 2 4.7E-02 0 0
CUI: C4520981
Disease: Abnormality of the basal ganglia
Abnormality of the basal ganglia 		17 0 1 2.0E-02 0 0
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		11 0 2 4.5E-02 0 0
CUI: C4021753
Disease: Abnormality of the immune system
Abnormality of the immune system 		34 0 1 1.5E-02 0 0
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		75 0 2 1.9E-02 0 0
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		205 0 1 4.2E-03 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 0 2 8.5E-03 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 1 3.8E-03 0 0
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 1 1.2E-02 2 3.4E-02
CUI: C0001122
Disease: Acidosis
Acidosis 		28 0 1 1.6E-02 0 0