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: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
20 0 1 9.5E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
85 0 2 1.2E-02 0 0
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria
8 0 2 2.2E-02 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome
15 0 1 1.0E-02 0 0
3-@METHYLGLUTACONIC ACIDURIA, TYPE I
2 0 1 1.1E-02 0 0
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
5 0 1 1.1E-02 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria
20 0 1 9.5E-03 0 0
CUI: C0342728
Disease: 3-Methylglutaconic aciduria type 1
3-Methylglutaconic aciduria type 1
1 0 1 1.2E-02 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2
30 0 1 8.7E-03 0 0
3-Phosphoglycerate dehydrogenase deficiency
1 0 1 1.2E-02 0 0
CUI: C2936420
Disease: 46, XX Gonadal Sex Reversal
46, XX Gonadal Sex Reversal
1 0 1 1.2E-02 0 0
46, XX Testicular Disorders of Sex Development
11 0 1 1.0E-02 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development
29 0 1 8.8E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female
25 0 1 9.1E-03 0 0
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4
3 0 1 1.1E-02 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
45 0 1 7.7E-03 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis
38 0 1 8.1E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 2 1.1E-02 0 0
CUI: C1291077
Disease: Abdominal bloating
Abdominal bloating
10 0 2 2.1E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 4 1.0E-02 0 0
CUI: C1141926
Disease: Abdominal sepsis
Abdominal sepsis
18 0 1 9.7E-03 0 0
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy
8 0 1 1.1E-02 0 0
CUI: C0266574
Disease: Ablepharon
Ablepharon
20 0 1 9.5E-03 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
41 0 1 7.9E-03 0 0
CUI: C0266781
Disease: Abnormal amniotic fluid
Abnormal amniotic fluid
8 0 1 1.1E-02 0 0