Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
3-@METHYLGLUTACONIC ACIDURIA, TYPE I
2 0 1 1.8E-03 0 0
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
5 0 2 3.6E-03 0 0
3-Hydroxyacyl-CoA Dehydrogenase Deficiency
4 0 1 1.8E-03 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria
20 0 4 6.9E-03 0 0
CUI: C0342728
Disease: 3-Methylglutaconic aciduria type 1
3-Methylglutaconic aciduria type 1
1 0 1 1.8E-03 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2
30 0 5 8.5E-03 0 0
CUI: C1855126
Disease: 3-Methylglutaconic Aciduria Type IV
3-Methylglutaconic Aciduria Type IV
4 0 1 1.8E-03 0 0
CUI: C0796137
Disease: 3C syndrome
3C syndrome
4 0 1 1.8E-03 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly
3 0 2 3.6E-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: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis
11 0 1 1.8E-03 0 0
CUI: C4476855
Disease: 5-minute APGAR score of 5
5-minute APGAR score of 5
1 0 1 1.8E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
45 0 2 3.3E-03 0 0
CUI: C4304529
Disease: 5q14.3 microdeletion syndrome
5q14.3 microdeletion syndrome
1 0 1 1.8E-03 0 0
CUI: C4304526
Disease: 5q35 microduplication syndrome
5q35 microduplication syndrome
1 0 1 1.8E-03 0 0
6-pyruvoyl-tetrahydropterin synthase deficiency
5 0 2 3.6E-03 0 0
CUI: C4304514
Disease: 6q terminal deletion syndrome
6q terminal deletion syndrome
1 0 1 1.8E-03 0 0
CUI: C4304527
Disease: 6q25 microdeletion syndrome
6q25 microdeletion syndrome
1 0 1 1.8E-03 0 0
CUI: C4750783
Disease: 7q31 microdeletion syndrome
7q31 microdeletion syndrome
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: C1838099
Disease: ABCD syndrome
ABCD syndrome
1 0 1 1.8E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 11 1.7E-02 0 0
CUI: C1291077
Disease: Abdominal bloating
Abdominal bloating
10 0 1 1.8E-03 0 0
CUI: C1563730
Disease: Abdominal Cryptorchidism
Abdominal Cryptorchidism
8 0 2 3.5E-03 0 0