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: C3697269
Disease: 15q24 Microdeletion
15q24 Microdeletion 		5 0 1 1.2E-02 0 0
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		4 0 1 1.2E-02 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 1 9.3E-03 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 1 1.1E-02 0 0
CUI: C3266843
Disease: 47, XYY syndrome
47, XYY syndrome 		9 0 1 1.2E-02 0 0
CUI: C4749507
Disease: 5p13 microduplication syndrome
5p13 microduplication syndrome 		1 0 1 1.3E-02 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 3 2.5E-02 0 0
CUI: C1563730
Disease: Abdominal Cryptorchidism
Abdominal Cryptorchidism 		8 0 1 1.2E-02 0 0
CUI: C0000735
Disease: Abdominal Neoplasms
Abdominal Neoplasms 		13 0 1 1.1E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 5 1.3E-02 0 0
CUI: C0740651
Disease: Abdominal symptom
Abdominal symptom 		17 0 1 1.1E-02 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		65 0 1 7.0E-03 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		41 0 1 8.5E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 16 1.6E-02 0 0
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology 		12 0 1 1.1E-02 0 0
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		7 0 1 1.2E-02 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		59 0 7 5.4E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 3 2.1E-02 0 0
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		17 0 1 1.1E-02 0 0
CUI: C0743002
Disease: Abnormal Deep Tendon Reflex
Abnormal Deep Tendon Reflex 		5 0 1 1.2E-02 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 0 2 1.9E-02 0 0
CUI: C4022922
Disease: Abnormal enzyme/coenzyme activity
Abnormal enzyme/coenzyme activity 		13 0 1 1.1E-02 0 0
CUI: C4024772
Disease: Abnormal flash visual evoked potentials
Abnormal flash visual evoked potentials 		2 0 1 1.3E-02 0 0
CUI: C0232769
Disease: Abnormal gallbladder function
Abnormal gallbladder function 		3 0 1 1.3E-02 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		6 0 1 1.2E-02 0 0