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 1.3E-02 0 0
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		10 0 1 1.5E-02 0 0
CUI: C4304594
Disease: 16q24.3 microdeletion syndrome
16q24.3 microdeletion syndrome 		1 0 1 1.7E-02 0 0
CUI: C0852698
Disease: 17,20-desmolase deficiency
17,20-desmolase deficiency 		1 0 1 1.7E-02 0 0
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		4 0 1 1.6E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 2 1.4E-02 0 0
CUI: C4023736
Disease: 2-5 finger syndactyly
2-5 finger syndactyly 		1 0 1 1.7E-02 0 0
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		8 0 1 1.5E-02 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 8.8E-03 0 0
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		9 0 1 1.5E-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 1.6E-02 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 2 2.6E-02 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		3 0 1 1.6E-02 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 2 2.3E-02 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 1 1.4E-02 0 0
CUI: C4304529
Disease: 5q14.3 microdeletion syndrome
5q14.3 microdeletion syndrome 		1 0 1 1.7E-02 0 0
CUI: C2713347
Disease: 7-Dehydrocholesterol Reductase Deficiency
7-Dehydrocholesterol Reductase Deficiency 		1 0 1 1.7E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 1 1.0E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 2 1.3E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 3 8.4E-03 0 0
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness 		9 0 1 1.5E-02 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level 		16 0 10 0.15 0 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		29 0 1 1.1E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 3 3.1E-03 0 0
CUI: C4073008
Disease: Abnormal best corrected visual acuity test
Abnormal best corrected visual acuity test 		2 0 2 3.4E-02 0 0