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-methylcrotonyl CoA carboxylase 1 deficiency
5 0 1 7.2E-04 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria
20 0 1 7.1E-04 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2
30 0 5 3.6E-03 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3
12 0 1 7.2E-04 0 0
CUI: C1855126
Disease: 3-Methylglutaconic Aciduria Type IV
3-Methylglutaconic Aciduria Type IV
4 0 1 7.2E-04 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development
6 0 3 2.2E-03 0 0
46, XX Testicular Disorders of Sex Development
11 0 1 7.2E-04 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development
29 0 5 3.6E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female
25 0 5 3.6E-03 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis
11 0 2 1.4E-03 0 0
CUI: C3151064
Disease: 46,XY SEX REVERSAL 6
46,XY SEX REVERSAL 6
1 0 1 7.2E-04 0 0
CUI: C3266843
Disease: 47, XYY syndrome
47, XYY syndrome
9 0 2 1.4E-03 0 0
5,10-Methylenetetrahydrofolate reductase deficiency
6 0 4 2.9E-03 0 0
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency
8 0 2 1.4E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
45 0 16 1.1E-02 0 0
CUI: C2931223
Disease: 6 alpha mercaptopurine sensitivity
6 alpha mercaptopurine sensitivity
1 0 1 7.2E-04 0 0
CUI: C4750783
Disease: 7q31 microdeletion syndrome
7q31 microdeletion syndrome
1 0 1 7.2E-04 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis
38 10 27 1.9E-02 4 3.5E-03
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
42 0 9 6.4E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 14 9.5E-03 0 0
CUI: C0000727
Disease: Abdomen, Acute
Abdomen, Acute
2 0 1 7.2E-04 0 0
CUI: C0243001
Disease: Abdominal Abscess
Abdominal Abscess
4 0 1 7.2E-04 0 0
CUI: C0549357
Disease: Abdominal adhesions
Abdominal adhesions
6 0 5 3.6E-03 0 0
CUI: C0398356
Disease: Abdominal aortic atherosclerosis
Abdominal aortic atherosclerosis
2 0 1 7.2E-04 0 0
CUI: C1291077
Disease: Abdominal bloating
Abdominal bloating
10 0 5 3.6E-03 0 0