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
10 0 2 3.5E-03 3.4E-02 0 0
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
5 7 1 1.8E-03 0.15 0 0
CUI: C4305140
Disease: 12q14 microdeletion syndrome
12q14 microdeletion syndrome
2 0 1 1.8E-03 5.6E-02 0 0
CUI: C3277849
Disease: 17,20-Lyase Deficiency, Isolated
17,20-Lyase Deficiency, Isolated
3 18 1 1.8E-03 0.11 0 0
2,4-Dienoyl-CoA Reductase Deficiency
2 1 1 1.8E-03 5.6E-02 0 0
CUI: C4021622
Disease: 2-4 toe cutaneous syndactyly
2-4 toe cutaneous syndactyly
1 0 1 1.8E-03 3.4E-02 0 0
CUI: C4304539
Disease: 20p12.3 microdeletion syndrome
20p12.3 microdeletion syndrome
1 0 1 1.8E-03 3.4E-02 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
30 22 3 5.1E-03 5.0E-02 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
21 2 2 3.5E-03 0.15 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome
5 5 2 3.6E-03 7.0E-03 0 0
CUI: C1834062
Disease: 3-4 toe syndactyly
3-4 toe syndactyly
4 1 2 3.6E-03 1.1E-02 0 0
3-@METHYLGLUTACONIC ACIDURIA, TYPE I
2 10 1 1.8E-03 5.6E-02 0 0
3-Hydroxyacyl-CoA Dehydrogenase Deficiency
5 3 2 3.6E-03 7.0E-03 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2
17 18 1 1.7E-03 0.43 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly
1 1 1 1.8E-03 3.4E-02 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development
19 21 1 1.7E-03 0.45 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis
11 0 1 1.8E-03 0.29 0 0
5,10-Methylenetetrahydrofolate reductase deficiency
19 17 7 1.2E-02 0 1 7.9E-03 1.5E-02
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency
4 0 1 1.8E-03 0.11 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
35 1 6 1.0E-02 0 0 0
6-Phosphogluconolactonase Deficiency
1 0 1 1.8E-03 3.4E-02 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis
25 5 15 2.6E-02 0 2 1.8E-02 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
13 14 2 3.5E-03 5.8E-02 0 0
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
19 1 1 1.7E-03 0.45 0 0
CUI: C0265265
Disease: Aase syndrome
Aase syndrome
3 3 1 1.8E-03 0.11 0 0