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 1.3E-03 0 0
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
4 0 1 6.5E-04 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly
3 0 1 6.5E-04 0 0
CUI: C1848678
Disease: 4-Hydroxyphenylpyruvic aciduria
4-Hydroxyphenylpyruvic aciduria
2 0 1 6.5E-04 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development
29 0 2 1.3E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female
25 0 2 1.3E-03 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis
11 0 3 1.9E-03 0 0
CUI: C3266843
Disease: 47, XYY syndrome
47, XYY syndrome
9 0 1 6.4E-04 0 0
5,10-Methylenetetrahydrofolate reductase deficiency
6 6 3 1.9E-03 2 5.7E-03
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
45 0 17 1.1E-02 0 0
CUI: C4304526
Disease: 5q35 microduplication syndrome
5q35 microduplication syndrome
1 0 1 6.5E-04 0 0
6q24-Related Transient Neonatal Diabetes Mellitus
2 0 1 6.5E-04 0 0
CUI: C3711390
Disease: 9q22.3 Microdeletion
9q22.3 Microdeletion
1 0 1 6.5E-04 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis
38 10 17 1.1E-02 2 5.6E-03
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
42 0 8 5.1E-03 0 0
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
16 0 2 1.3E-03 0 0
CUI: C0265265
Disease: Aase syndrome
Aase syndrome
2 0 1 6.5E-04 0 0
CUI: C1838099
Disease: ABCD syndrome
ABCD syndrome
1 0 1 6.5E-04 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 14 8.6E-03 0 0
CUI: C0000727
Disease: Abdomen, Acute
Abdomen, Acute
2 0 1 6.5E-04 0 0
CUI: C0243001
Disease: Abdominal Abscess
Abdominal Abscess
4 0 1 6.5E-04 0 0
CUI: C0549357
Disease: Abdominal adhesions
Abdominal adhesions
6 0 5 3.2E-03 0 0
CUI: C1291077
Disease: Abdominal bloating
Abdominal bloating
10 0 5 3.2E-03 0 0
CUI: C1142214
Disease: Abdominal cocoon
Abdominal cocoon
1 0 1 6.5E-04 0 0
CUI: C1142110
Disease: Abdominal Compartment Syndrome
Abdominal Compartment Syndrome
2 0 1 6.5E-04 0 0