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
30 0 4 6.6E-03 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3
12 0 5 8.5E-03 0 0
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 7
1 0 1 1.7E-03 0 0
CUI: C1855126
Disease: 3-Methylglutaconic Aciduria Type IV
3-Methylglutaconic Aciduria Type IV
4 0 2 3.4E-03 0 0
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
4 0 2 3.4E-03 0 0
3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME
1 0 1 1.7E-03 0 0
3-METHYLGLUTACONIC ACIDURIA, TYPE IX
1 0 1 1.7E-03 0 0
3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
1 0 1 1.7E-03 0 0
CUI: C3151952
Disease: 3-Methylglutaric aciduria
3-Methylglutaric aciduria
3 0 2 3.4E-03 0 0
3-Phosphoglycerate dehydrogenase deficiency
1 0 1 1.7E-03 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly
3 0 2 3.4E-03 0 0
46, XX Testicular Disorders of Sex Development
11 0 2 3.4E-03 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development
29 0 2 3.3E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female
25 0 1 1.7E-03 0 0
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4
3 0 1 1.7E-03 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis
11 0 1 1.7E-03 0 0
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency
8 0 1 1.7E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
45 0 5 8.1E-03 0 0
CUI: C4304526
Disease: 5q35 microduplication syndrome
5q35 microduplication syndrome
1 0 1 1.7E-03 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis
38 0 5 8.2E-03 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
42 0 2 3.2E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 10 1.5E-02 0 0
CUI: C1291077
Disease: Abdominal bloating
Abdominal bloating
10 0 2 3.4E-03 0 0
CUI: C1563730
Disease: Abdominal Cryptorchidism
Abdominal Cryptorchidism
8 0 1 1.7E-03 0 0
CUI: C0232487
Disease: Abdominal discomfort
Abdominal discomfort
3 0 1 1.7E-03 0 0