Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
(Idiopathic) normal pressure hydrocephalus
14 0 3 5.2E-03 0 0
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
10 0 3 5.3E-03 0 0
CUI: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement
7 0 1 1.8E-03 0 0
CUI: C4707828
Disease: 1p31p32 microdeletion syndrome
1p31p32 microdeletion syndrome
1 0 1 1.8E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
85 0 5 7.8E-03 0 0
CUI: C4021234
Disease: 2-4 toe syndactyly
2-4 toe syndactyly
2 0 1 1.8E-03 0 0
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria
8 0 1 1.8E-03 0 0
2-oxo-hept-3-ene-1,7-dioate hydratase activity
14 0 1 1.7E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
55 0 4 6.5E-03 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
31 0 3 5.1E-03 0 0
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome
12 0 1 1.7E-03 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome
15 0 3 5.2E-03 0 0
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
5 0 1 1.8E-03 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria
20 0 2 3.4E-03 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2
30 0 3 5.1E-03 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development
6 0 1 1.8E-03 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development
29 0 2 3.4E-03 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis
11 0 1 1.7E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
45 0 1 1.6E-03 0 0
CUI: C4304529
Disease: 5q14.3 microdeletion syndrome
5q14.3 microdeletion syndrome
1 0 1 1.8E-03 0 0
7-Dehydrocholesterol Reductase Deficiency
1 0 1 1.8E-03 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis
38 0 1 1.7E-03 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
42 0 3 5.0E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 5 7.6E-03 0 0
CUI: C0549357
Disease: Abdominal adhesions
Abdominal adhesions
6 0 2 3.5E-03 0 0