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 2 6.2E-03 0 0
CUI: C0865440
Disease: (non-specific) purulent meningitis
(non-specific) purulent meningitis 		6 0 3 9.5E-03 0 0
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		10 0 1 3.1E-03 0 0
CUI: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement 		7 19 2 6.3E-03 1 1.7E-02
CUI: C4274528
Disease: 1q41q42 microdeletion syndrome
1q41q42 microdeletion syndrome 		4 0 1 3.2E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 2 5.1E-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 1 3.1E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 7 1.9E-02 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 0 1 2.9E-03 0 0
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		9 0 1 3.1E-03 0 0
CUI: C4023115
Disease: 3-4 finger cutaneous syndactyly
3-4 finger cutaneous syndactyly 		3 0 1 3.2E-03 0 0
CUI: C0342727
Disease: 3-@METHYLGLUTACONIC ACIDURIA, TYPE I
3-@METHYLGLUTACONIC ACIDURIA, TYPE I 		2 0 1 3.2E-03 0 0
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		4 0 1 3.2E-03 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 1 3.2E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 1 3.0E-03 0 0
CUI: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
5,10-Methylenetetrahydrofolate reductase deficiency 		6 6 1 3.2E-03 1 2.1E-02
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 6 1.7E-02 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 0 12 3.6E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 1 2.8E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 8 2.0E-02 0 0
CUI: C0243001
Disease: Abdominal Abscess
Abdominal Abscess 		4 0 1 3.2E-03 0 0
CUI: C0549357
Disease: Abdominal adhesions
Abdominal adhesions 		6 0 2 6.3E-03 0 0
CUI: C1291077
Disease: Abdominal bloating
Abdominal bloating 		10 0 2 6.3E-03 0 0
CUI: C1142110
Disease: Abdominal Compartment Syndrome
Abdominal Compartment Syndrome 		2 0 1 3.2E-03 0 0
CUI: C1563730
Disease: Abdominal Cryptorchidism
Abdominal Cryptorchidism 		8 0 1 3.1E-03 0 0