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: C1837836
Disease: 4-5 toe syndactyly
4-5 toe syndactyly
4 0 2 4.8E-04 0 0
CUI: C1848680
Disease: 4-hydroxyphenylacetic aciduria
4-hydroxyphenylacetic aciduria
1 0 1 2.4E-04 0 0
CUI: C1848678
Disease: 4-Hydroxyphenylpyruvic aciduria
4-Hydroxyphenylpyruvic aciduria
2 0 2 4.8E-04 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development
6 0 6 1.4E-03 0 0
46, XX Testicular Disorders of Sex Development
11 0 7 1.7E-03 0 0
CUI: C0432481
Disease: 46, XX true hermaphrodite
46, XX true hermaphrodite
2 0 1 2.4E-04 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development
29 0 10 2.4E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female
25 0 12 2.9E-03 0 0
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4
3 0 1 2.4E-04 0 0
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
1 0 1 2.4E-04 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis
11 0 8 1.9E-03 0 0
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3
3 0 1 2.4E-04 0 0
CUI: C3151064
Disease: 46,XY SEX REVERSAL 6
46,XY SEX REVERSAL 6
1 0 1 2.4E-04 0 0
46,Xy True Hermaphroditism, Sry-Related
1 0 1 2.4E-04 0 0
CUI: C3266843
Disease: 47, XYY syndrome
47, XYY syndrome
9 0 3 7.2E-04 0 0
CUI: C4512053
Disease: 4p16.3 microduplication syndrome
4p16.3 microduplication syndrome
1 0 1 2.4E-04 0 0
5,10-Methylenetetrahydrofolate reductase deficiency
6 6 4 9.6E-04 2 1.7E-03
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency
8 0 2 4.8E-04 0 0
CUI: C4476855
Disease: 5-minute APGAR score of 5
5-minute APGAR score of 5
1 0 1 2.4E-04 0 0
CUI: C0268525
Disease: 5-oxoprolinase deficiency
5-oxoprolinase deficiency
2 0 1 2.4E-04 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
45 0 30 7.2E-03 0 0
CUI: C4304526
Disease: 5q35 microduplication syndrome
5q35 microduplication syndrome
1 0 1 2.4E-04 0 0
CUI: C1861360
Disease: 6 metacarpals
6 metacarpals
3 0 1 2.4E-04 0 0
6-Phosphogluconolactonase Deficiency
1 0 1 2.4E-04 0 0
6-pyruvoyl-tetrahydropterin synthase deficiency
5 0 2 4.8E-04 0 0