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 2 5.2E-03 0 0
CUI: C0865440
Disease: (non-specific) purulent meningitis
(non-specific) purulent meningitis
6 0 3 8.0E-03 0 0
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
10 0 1 2.6E-03 0 0
CUI: C4749920
Disease: 15q overgrowth syndrome
15q overgrowth syndrome
3 0 1 2.7E-03 0 0
CUI: C3697269
Disease: 15q24 Microdeletion
15q24 Microdeletion
5 0 1 2.7E-03 0 0
CUI: C3277849
Disease: 17,20-Lyase Deficiency, Isolated
17,20-Lyase Deficiency, Isolated
1 0 1 2.7E-03 0 0
17-Alpha-Hydroxylase/17,20 Lyase Deficiency
4 0 1 2.7E-03 0 0
CUI: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis
6 0 1 2.7E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
85 0 4 8.8E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
55 0 12 2.9E-02 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
31 0 2 5.0E-03 0 0
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome
12 0 1 2.6E-03 0 0
CUI: C4304537
Disease: 2p21 microdeletion syndrome
2p21 microdeletion syndrome
4 0 1 2.7E-03 0 0
2p21 microdeletion syndrome without cystinuria
2 0 1 2.7E-03 0 0
3 beta-Hydroxysteroid dehydrogenase deficiency
9 0 1 2.6E-03 0 0
CUI: C4023115
Disease: 3-4 finger cutaneous syndactyly
3-4 finger cutaneous syndactyly
3 0 1 2.7E-03 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2
30 0 4 1.0E-02 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3
12 0 1 2.6E-03 0 0
CUI: C1837836
Disease: 4-5 toe syndactyly
4-5 toe syndactyly
4 0 1 2.7E-03 0 0
CUI: C1848678
Disease: 4-Hydroxyphenylpyruvic aciduria
4-Hydroxyphenylpyruvic aciduria
2 0 1 2.7E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female
25 0 2 5.1E-03 0 0
CUI: C3266843
Disease: 47, XYY syndrome
47, XYY syndrome
9 0 1 2.6E-03 0 0
5,10-Methylenetetrahydrofolate reductase deficiency
6 6 2 5.3E-03 2 4.7E-02
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
45 0 7 1.7E-02 0 0
6-Phosphogluconolactonase Deficiency
1 0 1 2.7E-03 0 0