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: C4476857
Disease: 1-minute APGAR score of 0
1-minute APGAR score of 0
1 0 1 5.8E-03 0 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
20 0 5 2.7E-02 0 0
CUI: C4305140
Disease: 12q14 microdeletion syndrome
12q14 microdeletion syndrome
2 0 2 1.2E-02 0 0
CUI: C3697269
Disease: 15q24 Microdeletion
15q24 Microdeletion
5 0 1 5.7E-03 0 0
CUI: C3661485
Disease: 17p11.2 Monosomy
17p11.2 Monosomy
1 0 1 5.8E-03 0 0
CUI: C4304578
Disease: 1p21.3 microdeletion syndrome
1p21.3 microdeletion syndrome
1 0 1 5.8E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
85 16 16 6.7E-02 1 1.4E-02
CUI: C4021622
Disease: 2-4 toe cutaneous syndactyly
2-4 toe cutaneous syndactyly
1 0 1 5.8E-03 0 0
CUI: C4021234
Disease: 2-4 toe syndactyly
2-4 toe syndactyly
2 0 1 5.8E-03 0 0
2-oxo-hept-3-ene-1,7-dioate hydratase activity
14 0 1 5.4E-03 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
31 0 1 5.0E-03 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome
15 0 1 5.4E-03 0 0
CUI: C1834062
Disease: 3-4 toe syndactyly
3-4 toe syndactyly
4 0 1 5.7E-03 0 0
3-@METHYLGLUTACONIC ACIDURIA, TYPE V
3 0 1 5.8E-03 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria
20 0 2 1.1E-02 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2
30 0 1 5.0E-03 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3
12 0 1 5.5E-03 0 0
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
4 0 1 5.7E-03 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly
3 0 2 1.2E-02 0 0
CUI: C1837836
Disease: 4-5 toe syndactyly
4-5 toe syndactyly
4 0 1 5.7E-03 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis
11 0 1 5.5E-03 0 0
CUI: C4476851
Disease: 5-minute APGAR score of 1
5-minute APGAR score of 1
1 0 1 5.8E-03 0 0
CUI: C4304529
Disease: 5q14.3 microdeletion syndrome
5q14.3 microdeletion syndrome
1 0 1 5.8E-03 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis
38 0 1 4.8E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 3 1.1E-02 0 0