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: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2
29 0 13 3.3E-03 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3
11 0 3 7.7E-04 0 0
CUI: C1855126
Disease: 3-Methylglutaconic Aciduria Type IV
3-Methylglutaconic Aciduria Type IV
4 0 1 2.6E-04 0 0
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
4 0 1 2.6E-04 0 0
CUI: C0796137
Disease: 3C syndrome
3C syndrome
4 0 1 2.6E-04 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development
5 0 4 1.0E-03 0 0
46, XX Testicular Disorders of Sex Development
11 0 6 1.5E-03 0 0
CUI: C0432481
Disease: 46, XX true hermaphrodite
46, XX true hermaphrodite
2 0 1 2.6E-04 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development
29 0 10 2.6E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female
25 0 11 2.8E-03 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis
2 0 2 5.1E-04 0 0
CUI: C3266843
Disease: 47, XYY syndrome
47, XYY syndrome
9 0 3 7.7E-04 0 0
CUI: C4512053
Disease: 4p16.3 microduplication syndrome
4p16.3 microduplication syndrome
1 0 1 2.6E-04 0 0
5,10-Methylenetetrahydrofolate reductase deficiency
6 6 4 1.0E-03 2 2.0E-03
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency
8 0 2 5.1E-04 0 0
CUI: C0268525
Disease: 5-oxoprolinase deficiency
5-oxoprolinase deficiency
2 0 1 2.6E-04 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
45 0 30 7.7E-03 0 0
6-Phosphogluconolactonase Deficiency
1 0 1 2.6E-04 0 0
6-pyruvoyl-tetrahydropterin synthase deficiency
3 0 2 5.1E-04 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis
38 10 30 7.7E-03 2 2.0E-03
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
33 0 10 2.6E-03 0 0
CUI: C1838099
Disease: ABCD syndrome
ABCD syndrome
1 0 1 2.6E-04 0 0
CUI: C0243001
Disease: Abdominal Abscess
Abdominal Abscess
4 0 1 2.6E-04 0 0
CUI: C0549357
Disease: Abdominal adhesions
Abdominal adhesions
6 0 5 1.3E-03 0 0
CUI: C0398356
Disease: Abdominal aortic atherosclerosis
Abdominal aortic atherosclerosis
2 0 1 2.6E-04 0 0