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: C4023728
Disease: 1-5 finger syndactyly
1-5 finger syndactyly
3 0 1 1.5E-03 0 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
20 0 1 1.4E-03 0 0
CUI: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement
7 0 5 7.3E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
85 0 8 1.0E-02 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome
1 0 1 1.5E-03 0 0
CUI: C4015129
Disease: 46,XY SEX REVERSAL 9
46,XY SEX REVERSAL 9
2 0 1 1.5E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 10 1.3E-02 0 0
CUI: C0000734
Disease: Abdominal mass
Abdominal mass
2 0 1 1.5E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
231 0 13 1.4E-02 0 0
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy
8 0 1 1.4E-03 0 0
CUI: C4021524
Disease: Abnormal adipose tissue morphology
Abnormal adipose tissue morphology
6 0 1 1.4E-03 0 0
CUI: C4023036
Disease: Abnormal albumin level
Abnormal albumin level
1 0 1 1.5E-03 0 0
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential
11 0 1 1.4E-03 0 0
Abnormal axonemal organization of respiratory motile cilia
3 0 1 1.5E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
97 0 9 1.2E-02 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin
75 0 5 6.6E-03 0 0
CUI: C4023161
Disease: Abnormal bone ossification
Abnormal bone ossification
3 0 1 1.5E-03 0 0
CUI: C0159060
Disease: Abnormal bowel sounds
Abnormal bowel sounds
5 0 1 1.4E-03 0 0
Abnormal brain FDG positron emission tomography
18 0 1 1.4E-03 0 0
Abnormal cardiac exercise stress test
16 0 1 1.4E-03 0 0
Abnormal cardiac ventricular function
6 0 2 2.9E-03 0 0
CUI: C4025680
Disease: Abnormal cartilage morphology
Abnormal cartilage morphology
2 0 1 1.5E-03 0 0
CUI: C4021520
Disease: Abnormal cerebral artery morphology
Abnormal cerebral artery morphology
3 0 1 1.5E-03 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology
36 0 4 5.6E-03 0 0
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility
9 0 1 1.4E-03 0 0