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: C4476857
Disease: 1-minute APGAR score of 0
1-minute APGAR score of 0 		1 0 1 4.8E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 2 4.5E-02 0 0
CUI: C4476851
Disease: 5-minute APGAR score of 1
5-minute APGAR score of 1 		1 0 1 4.8E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 6 1.9E-02 0 0
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		11 0 1 3.2E-02 0 0
CUI: C4022745
Disease: Abnormal basal ganglia MRI signal intensity
Abnormal basal ganglia MRI signal intensity 		7 0 1 3.7E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 1 1.1E-03 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 2 3.6E-02 0 0
CUI: C0743002
Disease: Abnormal Deep Tendon Reflex
Abnormal Deep Tendon Reflex 		5 0 1 4.0E-02 0 0
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology 		30 0 6 0.13 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		39 0 4 7.1E-02 0 0
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		4 0 1 4.2E-02 0 0
CUI: C1866772
Disease: Abnormal nerve conduction velocity
Abnormal nerve conduction velocity 		5 0 1 4.0E-02 0 0
CUI: C4531122
Disease: Abnormal speech prosody
Abnormal speech prosody 		15 0 11 0.44 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		115 0 7 5.4E-02 0 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		55 0 7 0.10 0 0
CUI: C0854021
Disease: Abnormal visual field test
Abnormal visual field test 		4 0 1 4.2E-02 0 0
CUI: C4021795
Disease: Abnormality of Krebs cycle metabolism
Abnormality of Krebs cycle metabolism 		12 0 11 0.50 0 0
CUI: C4021734
Disease: Abnormality of mitochondrial metabolism
Abnormality of mitochondrial metabolism 		21 0 6 0.17 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 6 2.6E-02 0 0
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		55 0 1 1.3E-02 0 0
CUI: C1854510
Disease: Abnormality of the cranial nerves
Abnormality of the cranial nerves 		17 0 1 2.7E-02 0 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		56 0 1 1.3E-02 0 0
CUI: C4025785
Disease: Abnormality of the foot musculature
Abnormality of the foot musculature 		8 0 1 3.6E-02 0 0
CUI: C4021753
Disease: Abnormality of the immune system
Abnormality of the immune system 		34 0 2 3.8E-02 0 0