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: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		10 0 1 6.5E-03 0 0
CUI: C3697269
Disease: 15q24 Microdeletion
15q24 Microdeletion 		5 0 1 6.7E-03 0 0
CUI: C3277849
Disease: 17,20-Lyase Deficiency, Isolated
17,20-Lyase Deficiency, Isolated 		1 0 1 6.8E-03 0 0
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		4 0 1 6.7E-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 6.3E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 2 1.0E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 1 5.9E-03 0 0
CUI: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
5,10-Methylenetetrahydrofolate reductase deficiency 		6 0 1 6.6E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 1 5.3E-03 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 2 1.1E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 1 4.0E-03 0 0
CUI: C0549357
Disease: Abdominal adhesions
Abdominal adhesions 		6 0 1 6.6E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 4 9.0E-03 0 0
CUI: C0740651
Disease: Abdominal symptom
Abdominal symptom 		17 0 1 6.2E-03 0 0
CUI: C0238577
Disease: Abdominal wall defect
Abdominal wall defect 		8 0 1 6.5E-03 0 0
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		8 0 1 6.5E-03 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		65 0 1 4.8E-03 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		41 14 3 1.6E-02 1 2.8E-03
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		29 0 2 1.2E-02 0 0
CUI: C4021748
Disease: Abnormal B cell morphology
Abnormal B cell morphology 		1 0 1 6.8E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 15 1.4E-02 0 0
CUI: C4022798
Disease: Abnormal brain FDG positron emission tomography
Abnormal brain FDG positron emission tomography 		18 0 1 6.1E-03 0 0
CUI: C4280765
Disease: Abnormal C-peptide level
Abnormal C-peptide level 		14 0 2 1.3E-02 0 0
CUI: C4477077
Disease: Abnormal cardiac exercise stress test
Abnormal cardiac exercise stress test 		16 0 1 6.2E-03 0 0
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology 		12 0 2 1.3E-02 0 0