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: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 1 2.1E-02 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 0 1 1.7E-02 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 1 2.4E-02 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 1 2.1E-02 0 0
CUI: C4512053
Disease: 4p16.3 microduplication syndrome
4p16.3 microduplication syndrome 		1 0 1 3.6E-02 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 1 1.4E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 2 1.6E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 3 9.2E-03 0 0
CUI: C0740651
Disease: Abdominal symptom
Abdominal symptom 		17 0 1 2.3E-02 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		65 0 1 1.1E-02 0 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		29 0 1 1.8E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 121 8 8.6E-03 1 4.0E-03
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 2 2.0E-02 0 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		32 0 1 1.7E-02 0 0
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology 		12 0 3 8.1E-02 0 0
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		7 0 1 2.9E-02 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		59 0 1 1.2E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 1 1.0E-02 0 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		29 0 1 1.8E-02 0 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology 		39 0 1 1.5E-02 0 0
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		42 0 1 1.4E-02 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		6 0 1 3.0E-02 0 0
CUI: C3151111
Disease: Abnormal light- and dark-adapted electroretinogram
Abnormal light- and dark-adapted electroretinogram 		9 0 1 2.8E-02 0 0
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney 		40 0 1 1.5E-02 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		39 0 1 1.5E-02 0 0