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: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 0 1 2.1E-02 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 1 3.1E-02 0 0
CUI: C4512053
Disease: 4p16.3 microduplication syndrome
4p16.3 microduplication syndrome 		1 0 1 5.6E-02 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 1 1.6E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 1 3.1E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 2 2.2E-03 0 0
CUI: C4025836
Disease: Abnormal choroid morphology
Abnormal choroid morphology 		12 0 1 3.4E-02 0 0
CUI: C0234629
Disease: Abnormal color vision
Abnormal color vision 		5 0 1 4.5E-02 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		44 0 2 3.3E-02 0 0
CUI: C4021662
Disease: Abnormal endocardium morphology
Abnormal endocardium morphology 		23 0 1 2.5E-02 0 0
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		29 0 2 4.4E-02 0 0
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		42 0 1 1.7E-02 0 0
CUI: C4021095
Disease: Abnormal hypothalamus morphology
Abnormal hypothalamus morphology 		4 0 1 4.8E-02 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		6 0 1 4.3E-02 0 0
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney 		40 0 1 1.8E-02 0 0
CUI: C4025759
Disease: Abnormal mitral valve morphology
Abnormal mitral valve morphology 		5 0 1 4.5E-02 0 0
CUI: C1837388
Disease: Abnormal pattern of respiration
Abnormal pattern of respiration 		20 0 1 2.7E-02 0 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		21 0 2 5.4E-02 0 0
CUI: C4476886
Disease: Abnormal vena cava morphology
Abnormal vena cava morphology 		2 0 1 5.3E-02 0 0
CUI: C0241665
Disease: Abnormal venous morphology
Abnormal venous morphology 		2 0 1 5.3E-02 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		115 0 3 2.3E-02 0 0
CUI: C4280760
Disease: Abnormal visual accommodation
Abnormal visual accommodation 		5 0 3 0.15 0 0
CUI: C0854021
Disease: Abnormal visual field test
Abnormal visual field test 		4 0 1 4.8E-02 0 0
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		50 0 1 1.5E-02 0 0
CUI: C0850715
Disease: Abnormality of blood and blood-forming tissues
Abnormality of blood and blood-forming tissues 		23 0 1 2.5E-02 0 0