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: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 6 1.9E-02 0 0
CUI: C4022745
Disease: Abnormal basal ganglia MRI signal intensity
Abnormal basal ganglia MRI signal intensity 		7 0 1 4.2E-02 0 0
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		9 0 5 0.23 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 2 3.8E-02 0 0
CUI: C4025706
Disease: Abnormal globus pallidus morphology
Abnormal globus pallidus morphology 		10 0 5 0.22 0 0
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology 		30 0 6 0.14 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		39 0 6 0.12 0 0
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		4 0 1 4.8E-02 0 0
CUI: C1837388
Disease: Abnormal pattern of respiration
Abnormal pattern of respiration 		20 0 1 2.7E-02 0 0
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement 		17 0 5 0.17 0 0
CUI: C4531122
Disease: Abnormal speech prosody
Abnormal speech prosody 		15 0 11 0.50 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		115 0 6 4.7E-02 0 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		55 0 6 9.0E-02 0 0
CUI: C0854021
Disease: Abnormal visual field test
Abnormal visual field test 		4 0 1 4.8E-02 0 0
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		21 0 5 0.15 0 0
CUI: C4021795
Disease: Abnormality of Krebs cycle metabolism
Abnormality of Krebs cycle metabolism 		12 0 11 0.58 0 0
CUI: C4021734
Disease: Abnormality of mitochondrial metabolism
Abnormality of mitochondrial metabolism 		21 0 6 0.18 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 6 2.6E-02 0 0
CUI: C4021243
Disease: Abnormality of thalamus morphology
Abnormality of thalamus morphology 		10 0 5 0.22 0 0
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		55 0 1 1.4E-02 0 0
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		11 0 5 0.21 0 0
CUI: C1848873
Disease: Abnormality of the diaphragm
Abnormality of the diaphragm 		12 0 1 3.4E-02 0 0
CUI: C4025763
Disease: Abnormality of the rib cage
Abnormality of the rib cage 		16 0 1 3.0E-02 0 0
CUI: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax 		40 0 1 1.8E-02 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 0 3 1.4E-02 0 0