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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 2 9.5E-03 0 0
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		14 0 1 7.1E-03 0 0
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		4 0 1 7.7E-03 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 2 1.3E-02 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		12 0 2 1.5E-02 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 2 1.2E-02 0 0
CUI: C4304514
Disease: 6q terminal deletion syndrome
6q terminal deletion syndrome 		1 0 1 7.9E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 1 4.4E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 18 10 2.4E-02 1 2.9E-02
CUI: C0740651
Disease: Abdominal symptom
Abdominal symptom 		17 0 1 7.0E-03 0 0
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		8 2 1 7.5E-03 1 5.6E-02
CUI: C4025834
Disease: Abnormal amplitude of pattern reversal visual evoked potentials
Abnormal amplitude of pattern reversal visual evoked potentials 		1 0 1 7.9E-03 0 0
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		11 0 3 2.2E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 28 2.8E-02 0 0
CUI: C0159060
Disease: Abnormal bowel sounds
Abnormal bowel sounds 		5 0 1 7.6E-03 0 0
CUI: C4022798
Disease: Abnormal brain FDG positron emission tomography
Abnormal brain FDG positron emission tomography 		18 0 2 1.4E-02 0 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		32 0 8 5.3E-02 0 0
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology 		12 0 1 7.2E-03 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 3 1.9E-02 0 0
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		7 0 1 7.5E-03 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		59 0 15 8.8E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 1 5.1E-03 0 0
CUI: C4023607
Disease: Abnormal corpus striatum morphology
Abnormal corpus striatum morphology 		5 0 1 7.6E-03 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		41 0 1 6.0E-03 0 0
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		17 0 3 2.1E-02 0 0