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: C1834062
Disease: 3-4 toe syndactyly
3-4 toe syndactyly
4 0 1 6.0E-04 0 0
3-@METHYLGLUTACONIC ACIDURIA, TYPE I
2 0 1 6.0E-04 0 0
3-methylcrotonyl CoA carboxylase 1 deficiency
5 0 1 6.0E-04 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria
20 0 2 1.2E-03 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2
30 0 11 6.6E-03 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3
12 0 5 3.0E-03 0 0
CUI: C1855126
Disease: 3-Methylglutaconic Aciduria Type IV
3-Methylglutaconic Aciduria Type IV
4 0 1 6.0E-04 0 0
3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
1 0 1 6.0E-04 0 0
CUI: C0796137
Disease: 3C syndrome
3C syndrome
4 0 1 6.0E-04 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly
3 0 2 1.2E-03 0 0
CUI: C1848678
Disease: 4-Hydroxyphenylpyruvic aciduria
4-Hydroxyphenylpyruvic aciduria
2 0 1 6.0E-04 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development
6 0 3 1.8E-03 0 0
46, XX Testicular Disorders of Sex Development
11 0 4 2.4E-03 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development
29 0 7 4.2E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female
25 0 5 3.0E-03 0 0
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4
3 0 1 6.0E-04 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis
11 0 2 1.2E-03 0 0
CUI: C2752149
Disease: 46,XY Sex Reversal 4
46,XY Sex Reversal 4
1 0 1 6.0E-04 0 0
CUI: C4512053
Disease: 4p16.3 microduplication syndrome
4p16.3 microduplication syndrome
1 0 1 6.0E-04 0 0
CUI: C0265404
Disease: 4q partial monosomy syndrome
4q partial monosomy syndrome
1 0 1 6.0E-04 0 0
5,10-Methylenetetrahydrofolate reductase deficiency
6 6 4 2.4E-03 3 5.1E-03
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency
8 0 5 3.0E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
45 1 19 1.1E-02 1 1.7E-03
CUI: C1861360
Disease: 6 metacarpals
6 metacarpals
3 0 1 6.0E-04 0 0
6-Phosphogluconolactonase Deficiency
1 0 1 6.0E-04 0 0