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 1.3E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 16 3 1.9E-02 2 4.3E-02
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 2 1.6E-02 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 1 1.1E-02 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 1 1.1E-02 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		12 0 1 1.2E-02 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 1 1.2E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 1 1.0E-02 0 0
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4 		3 0 1 1.3E-02 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 1 8.5E-03 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 4 3.6E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 1 5.7E-03 0 0
CUI: C1563730
Disease: Abdominal Cryptorchidism
Abdominal Cryptorchidism 		8 0 1 1.2E-02 0 0
CUI: C0000734
Disease: Abdominal mass
Abdominal mass 		2 0 1 1.3E-02 0 0
CUI: C0000735
Disease: Abdominal Neoplasms
Abdominal Neoplasms 		13 0 1 1.2E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 18 20 5.6E-02 1 2.0E-02
CUI: C0740651
Disease: Abdominal symptom
Abdominal symptom 		17 0 2 2.2E-02 0 0
CUI: C4087490
Disease: Abdominal tuberculosis
Abdominal tuberculosis 		2 0 1 1.3E-02 0 0
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness 		9 0 1 1.2E-02 0 0
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		8 0 1 1.2E-02 0 0
CUI: C1879526
Disease: Aberrant Crypt Foci
Aberrant Crypt Foci 		7 0 1 1.3E-02 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		65 0 1 7.2E-03 0 0
CUI: C4024963
Disease: Abnormal aggressive, impulsive or violent behavior
Abnormal aggressive, impulsive or violent behavior 		2 0 1 1.3E-02 0 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		29 0 10 0.11 0 0
CUI: C4025244
Disease: Abnormal atrioventricular conduction
Abnormal atrioventricular conduction 		7 0 2 2.5E-02 0 0