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: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 1 1.0E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 2 1.3E-02 0 0
CUI: C4304539
Disease: 20p12.3 microdeletion syndrome
20p12.3 microdeletion syndrome 		1 0 1 1.3E-02 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 7.6E-03 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 1 1.0E-02 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		12 0 2 2.3E-02 0 0
CUI: C1855126
Disease: 3-Methylglutaconic Aciduria Type IV
3-Methylglutaconic Aciduria Type IV 		4 0 1 1.3E-02 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 1 1.1E-02 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 1 9.5E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 1 9.9E-03 0 0
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency 		8 0 1 1.2E-02 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 1 8.3E-03 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 0 1 8.8E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 2 1.1E-02 0 0
CUI: C0000734
Disease: Abdominal mass
Abdominal mass 		2 0 1 1.3E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 15 4.1E-02 0 0
CUI: C0459683
Disease: Abdominal stoma
Abdominal stoma 		1 0 1 1.3E-02 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		65 0 1 7.1E-03 0 0
CUI: C0266574
Disease: Ablepharon
Ablepharon 		20 0 1 1.0E-02 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		41 0 2 1.7E-02 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level 		16 0 2 2.2E-02 0 0
CUI: C4025244
Disease: Abnormal atrioventricular conduction
Abnormal atrioventricular conduction 		7 0 3 3.7E-02 0 0
CUI: C4476997
Disease: Abnormal B-type natriuretic peptide level
Abnormal B-type natriuretic peptide level 		1 0 1 1.3E-02 0 0
CUI: C4022745
Disease: Abnormal basal ganglia MRI signal intensity
Abnormal basal ganglia MRI signal intensity 		7 0 1 1.2E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 16 1.6E-02 0 0