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 4.1E-03 0 0
CUI: C0865440
Disease: (non-specific) purulent meningitis
(non-specific) purulent meningitis
6 0 2 4.2E-03 0 0
CUI: C4476858
Disease: 1-minute APGAR score of 1
1-minute APGAR score of 1
1 0 1 2.1E-03 0 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
20 0 1 2.0E-03 0 0
CUI: C4755260
Disease: 12p12.1 microdeletion syndrome
12p12.1 microdeletion syndrome
1 0 1 2.1E-03 0 0
CUI: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement
7 0 2 4.1E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
85 0 4 7.2E-03 0 0
CUI: C4021234
Disease: 2-4 toe syndactyly
2-4 toe syndactyly
2 0 1 2.1E-03 0 0
2-oxo-hept-3-ene-1,7-dioate hydratase activity
14 0 2 4.1E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
55 0 12 2.3E-02 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
31 0 2 4.0E-03 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome
15 0 2 4.1E-03 0 0
CUI: C4023115
Disease: 3-4 finger cutaneous syndactyly
3-4 finger cutaneous syndactyly
3 0 1 2.1E-03 0 0
3-Hydroxyacyl-CoA Dehydrogenase Deficiency
4 0 1 2.1E-03 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2
30 0 1 2.0E-03 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3
12 0 1 2.0E-03 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development
29 0 1 2.0E-03 0 0
CUI: C4512053
Disease: 4p16.3 microduplication syndrome
4p16.3 microduplication syndrome
1 0 1 2.1E-03 0 0
5,10-Methylenetetrahydrofolate reductase deficiency
6 6 1 2.1E-03 1 1.1E-02
CUI: C4476855
Disease: 5-minute APGAR score of 5
5-minute APGAR score of 5
1 0 1 2.1E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
45 0 5 9.7E-03 0 0
CUI: C4304526
Disease: 5q35 microduplication syndrome
5q35 microduplication syndrome
1 0 1 2.1E-03 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis
38 0 6 1.2E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
42 0 5 9.7E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 6 1.0E-02 0 0