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 4.7E-03 0 0
17-Hydroxysteroid Dehydrogenase Deficiency
5 0 1 5.0E-03 0 0
CUI: C4304540
Disease: 1q44 microdeletion syndrome
1q44 microdeletion syndrome
1 0 1 5.1E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
85 0 3 1.1E-02 0 0
CUI: C4021234
Disease: 2-4 toe syndactyly
2-4 toe syndactyly
2 0 1 5.1E-03 0 0
2-oxo-hept-3-ene-1,7-dioate hydratase activity
14 0 1 4.8E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
55 0 1 4.0E-03 0 0
3 beta-Hydroxysteroid dehydrogenase deficiency
9 0 1 4.9E-03 0 0
CUI: C4023115
Disease: 3-4 finger cutaneous syndactyly
3-4 finger cutaneous syndactyly
3 0 1 5.1E-03 0 0
3-@METHYLGLUTACONIC ACIDURIA, TYPE V
3 0 1 5.1E-03 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria
20 0 1 4.7E-03 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2
30 0 2 8.9E-03 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3
12 0 1 4.8E-03 0 0
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
4 0 1 5.0E-03 0 0
CUI: C1848678
Disease: 4-Hydroxyphenylpyruvic aciduria
4-Hydroxyphenylpyruvic aciduria
2 0 1 5.1E-03 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development
6 0 1 5.0E-03 0 0
46, XX Testicular Disorders of Sex Development
11 0 2 9.8E-03 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development
29 0 4 1.8E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female
25 0 2 9.1E-03 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis
11 0 1 4.9E-03 0 0
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency
8 0 1 4.9E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
45 0 2 8.4E-03 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis
38 0 2 8.6E-03 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
42 0 2 8.5E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 3 1.0E-02 0 0