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: C2047886
Disease: (Idiopathic) normal pressure hydrocephalus
(Idiopathic) normal pressure hydrocephalus 		14 0 3 4.2E-03 0 0
CUI: C0865440
Disease: (non-specific) purulent meningitis
(non-specific) purulent meningitis 		6 0 2 2.8E-03 0 0
CUI: C4476858
Disease: 1-minute APGAR score of 1
1-minute APGAR score of 1 		1 0 1 1.4E-03 0 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 2 2.7E-03 0 0
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		10 0 1 1.4E-03 0 0
CUI: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement 		7 0 1 1.4E-03 0 0
CUI: C4274528
Disease: 1q41q42 microdeletion syndrome
1q41q42 microdeletion syndrome 		4 0 1 1.4E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 6 7.6E-03 0 0
CUI: C4021622
Disease: 2-4 toe cutaneous syndactyly
2-4 toe cutaneous syndactyly 		1 0 1 1.4E-03 0 0
CUI: C4021234
Disease: 2-4 toe syndactyly
2-4 toe syndactyly 		2 0 1 1.4E-03 0 0
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		8 0 1 1.4E-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 2 2.8E-03 0 0
CUI: C4304539
Disease: 20p12.3 microdeletion syndrome
20p12.3 microdeletion syndrome 		1 0 1 1.4E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 28 12 1.6E-02 1 1.6E-03
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 0 1 1.4E-03 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 3 4.2E-03 0 0
CUI: C4023115
Disease: 3-4 finger cutaneous syndactyly
3-4 finger cutaneous syndactyly 		3 0 1 1.4E-03 0 0
CUI: C1834062
Disease: 3-4 toe syndactyly
3-4 toe syndactyly 		4 0 1 1.4E-03 0 0
CUI: C2751532
Disease: 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		5 0 1 1.4E-03 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 1 1.4E-03 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 2 2.7E-03 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		3 0 1 1.4E-03 0 0
CUI: C1848678
Disease: 4-Hydroxyphenylpyruvic aciduria
4-Hydroxyphenylpyruvic aciduria 		2 0 1 1.4E-03 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 2 2.8E-03 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 1 1.4E-03 0 0