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 3.1E-02 0 0
CUI: C3277849
Disease: 17,20-Lyase Deficiency, Isolated
17,20-Lyase Deficiency, Isolated 		1 0 1 4.3E-02 0 0
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		4 0 1 3.8E-02 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 3 4.0E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 1 2.1E-02 0 0
CUI: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
5,10-Methylenetetrahydrofolate reductase deficiency 		6 0 1 3.6E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 1 1.6E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 1 3.1E-03 0 0
CUI: C0238577
Disease: Abdominal wall defect
Abdominal wall defect 		8 0 1 3.3E-02 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		65 0 1 1.1E-02 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		41 14 2 3.2E-02 2 0.14
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 5 5.4E-03 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 1 1.7E-02 0 0
CUI: C0857898
Disease: Abnormal circulating aldosterone
Abnormal circulating aldosterone 		2 0 1 4.2E-02 0 0
CUI: C4022996
Disease: Abnormal sex determination
Abnormal sex determination 		15 0 1 2.7E-02 0 0
CUI: C0520933
Disease: Abnormal spermatogenesis
Abnormal spermatogenesis 		5 0 1 3.7E-02 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		115 0 1 7.3E-03 0 0
CUI: C4021634
Disease: Abnormality of bone marrow cell morphology
Abnormality of bone marrow cell morphology 		15 0 1 2.7E-02 0 0
CUI: C4551705
Disease: Abnormality of chromosome stability
Abnormality of chromosome stability 		34 0 1 1.8E-02 0 0
CUI: C4023588
Disease: Abnormality of the gastrointestinal tract
Abnormality of the gastrointestinal tract 		14 0 1 2.8E-02 0 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		148 0 1 5.9E-03 0 0
CUI: C4021821
Disease: Abnormality of the urinary system
Abnormality of the urinary system 		50 0 4 5.8E-02 0 0
CUI: C0000822
Disease: Abortion, Tubal
Abortion, Tubal 		109 0 3 2.3E-02 0 0
CUI: C0000832
Disease: Abruptio Placentae
Abruptio Placentae 		12 0 2 6.1E-02 0 0
CUI: C4021551
Disease: Absence of secondary sex characteristics
Absence of secondary sex characteristics 		44 0 1 1.5E-02 0 0