Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
3 beta-Hydroxysteroid dehydrogenase deficiency
9 0 1 2.8E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female
25 0 1 1.9E-02 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
45 0 1 1.4E-02 0 0
CUI: C1563730
Disease: Abdominal Cryptorchidism
Abdominal Cryptorchidism
8 0 1 2.9E-02 0 0
CUI: C0000735
Disease: Abdominal Neoplasms
Abdominal Neoplasms
13 0 1 2.5E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 4 1.2E-02 0 0
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness
9 0 1 2.8E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 7 7.5E-03 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin
75 0 1 9.8E-03 0 0
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration
17 0 1 2.3E-02 0 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology
29 0 2 3.6E-02 0 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology
39 0 1 1.5E-02 0 0
Abnormal form of the vertebral bodies
89 0 1 8.6E-03 0 0
CUI: C0349705
Disease: Abnormal hemoglobin finding
Abnormal hemoglobin finding
9 0 1 2.8E-02 0 0
CUI: C4025715
Disease: Abnormal large intestine morphology
Abnormal large intestine morphology
2 0 1 3.4E-02 0 0
Abnormal light- and dark-adapted electroretinogram
9 0 1 2.8E-02 0 0
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation
32 0 1 1.7E-02 0 0
CUI: C0855742
Disease: Abnormal platelet morphology
Abnormal platelet morphology
10 0 1 2.7E-02 0 0
Abnormal pulmonary valve cusp morphology
2 0 1 3.4E-02 0 0
Abnormal serum dehydroepiandrosterone level
1 0 1 3.6E-02 0 0
Abnormal subcutaneous fat tissue distribution
9 0 1 2.8E-02 0 0
Abnormality of blood and blood-forming tissues
23 0 1 2.0E-02 0 0
Abnormality of cardiovascular system morphology
198 0 2 8.9E-03 0 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation
59 0 3 3.6E-02 0 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel
96 0 1 8.1E-03 0 0