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: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3
12 0 2 2.0E-03 0 0
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
4 0 1 1.0E-03 0 0
3-Phosphoglycerate dehydrogenase deficiency
1 0 1 1.0E-03 0 0
CUI: C1837836
Disease: 4-5 toe syndactyly
4-5 toe syndactyly
4 0 2 2.1E-03 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development
6 0 2 2.0E-03 0 0
46, XX Testicular Disorders of Sex Development
11 0 5 5.1E-03 0 0
CUI: C0432481
Disease: 46, XX true hermaphrodite
46, XX true hermaphrodite
2 0 1 1.0E-03 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development
29 0 3 3.0E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female
25 0 4 4.0E-03 0 0
CUI: C3151782
Disease: 46,XX SEX REVERSAL 3
46,XX SEX REVERSAL 3
1 0 1 1.0E-03 0 0
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4
3 0 1 1.0E-03 0 0
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
1 0 1 1.0E-03 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis
11 0 2 2.0E-03 0 0
46,Xy True Hermaphroditism, Sry-Related
1 0 1 1.0E-03 0 0
CUI: C3266843
Disease: 47, XYY syndrome
47, XYY syndrome
9 0 1 1.0E-03 0 0
CUI: C4512053
Disease: 4p16.3 microduplication syndrome
4p16.3 microduplication syndrome
1 0 1 1.0E-03 0 0
5,10-Methylenetetrahydrofolate reductase deficiency
6 0 3 3.1E-03 0 0
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency
8 0 1 1.0E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
45 0 12 1.2E-02 0 0
CUI: C1861360
Disease: 6 metacarpals
6 metacarpals
3 0 1 1.0E-03 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis
38 0 10 1.0E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
42 0 8 8.0E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 16 1.5E-02 0 0
CUI: C0243001
Disease: Abdominal Abscess
Abdominal Abscess
4 0 1 1.0E-03 0 0
CUI: C0549357
Disease: Abdominal adhesions
Abdominal adhesions
6 0 4 4.1E-03 0 0