Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
2-oxo-hept-3-ene-1,7-dioate hydratase activity
14 0 1 1.2E-02 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
31 0 1 1.0E-02 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome
15 0 1 1.2E-02 0 0
46, XX Testicular Disorders of Sex Development
11 0 1 1.3E-02 0 0
CUI: C3151782
Disease: 46,XX SEX REVERSAL 3
46,XX SEX REVERSAL 3
1 0 1 1.5E-02 0 0
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4
3 0 1 1.4E-02 0 0
CUI: C4512053
Disease: 4p16.3 microduplication syndrome
4p16.3 microduplication syndrome
1 0 1 1.5E-02 0 0
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency
8 0 1 1.3E-02 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
45 0 1 8.9E-03 0 0
CUI: C4304529
Disease: 5q14.3 microdeletion syndrome
5q14.3 microdeletion syndrome
1 0 1 1.5E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
42 0 1 9.2E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 1 5.9E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 3 8.2E-03 0 0
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy
8 0 1 1.3E-02 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
65 0 1 7.6E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 17 1.8E-02 0 0
CUI: C1260922
Disease: Abnormal breathing
Abnormal breathing
5 0 1 1.4E-02 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology
36 0 1 9.7E-03 0 0
CUI: C4025836
Disease: Abnormal choroid morphology
Abnormal choroid morphology
12 0 2 2.6E-02 0 0
Abnormal circle of Willis morphology
4 0 1 1.4E-02 0 0
CUI: C4025858
Disease: Abnormal cochlea morphology
Abnormal cochlea morphology
16 0 11 0.15 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
59 0 1 7.9E-03 0 0
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology
9 0 1 1.3E-02 0 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology
39 0 1 9.4E-03 0 0
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology
10 0 1 1.3E-02 0 0