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 2.8E-02 0 0
CUI: C4304594
Disease: 16q24.3 microdeletion syndrome
16q24.3 microdeletion syndrome 		1 0 1 3.1E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 5 4.5E-02 0 0
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		8 0 1 2.6E-02 0 0
CUI: C4023115
Disease: 3-4 finger cutaneous syndactyly
3-4 finger cutaneous syndactyly 		3 0 1 2.9E-02 0 0
CUI: C2751532
Disease: 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		5 0 1 2.8E-02 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 1 2.0E-02 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		3 0 1 2.9E-02 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 1 2.4E-02 0 0
CUI: C2713347
Disease: 7-Dehydrocholesterol Reductase Deficiency
7-Dehydrocholesterol Reductase Deficiency 		1 0 1 3.1E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 1 1.4E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 2 1.5E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 1 3.0E-03 0 0
CUI: C1879526
Disease: Aberrant Crypt Foci
Aberrant Crypt Foci 		7 0 1 2.6E-02 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		65 0 1 1.0E-02 0 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		29 0 2 3.4E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 3 3.2E-03 0 0
CUI: C4476564
Disease: Abnormal brain lactate level by MRS
Abnormal brain lactate level by MRS 		2 1 1 3.0E-02 1 0.33
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		32 0 1 1.6E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 2 2.0E-02 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		41 0 1 1.4E-02 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 1 1.6E-02 1 2.6E-02
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		44 0 2 2.7E-02 0 0
CUI: C4025628
Disease: Abnormal enchondral ossification
Abnormal enchondral ossification 		4 0 1 2.9E-02 0 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology 		39 0 1 1.4E-02 0 0