Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
6-pyruvoyl-tetrahydropterin synthase deficiency
5 0 1 4.3E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
42 0 1 1.7E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 1 8.3E-03 0 0
CUI: C0000735
Disease: Abdominal Neoplasms
Abdominal Neoplasms
13 0 1 3.2E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 4 1.3E-02 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
65 0 2 2.4E-02 0 0
CUI: C0266574
Disease: Ablepharon
Ablepharon
20 0 1 2.6E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 1 1.1E-03 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin
75 0 1 1.1E-02 0 0
Abnormal brain FDG positron emission tomography
18 0 1 2.8E-02 0 0
CUI: C4025680
Disease: Abnormal cartilage morphology
Abnormal cartilage morphology
2 0 1 5.0E-02 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern
44 0 1 1.6E-02 0 0
CUI: C4022657
Disease: Abnormal drinking behavior
Abnormal drinking behavior
1 0 1 5.3E-02 0 0
CUI: C4021982
Disease: Abnormal eating behavior
Abnormal eating behavior
8 0 1 3.8E-02 0 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology
39 0 1 1.8E-02 0 0
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity
29 0 1 2.1E-02 0 0
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
42 0 1 1.7E-02 0 0
Abnormal lower motor neuron morphology
23 0 1 2.4E-02 0 0
Abnormal nasolacrimal system morphology
23 0 1 2.4E-02 0 0
Abnormal pigmentation of the oral mucosa
1 0 1 5.3E-02 0 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function
21 0 1 2.6E-02 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
104 0 1 8.2E-03 0 0
Abnormality of cardiovascular system morphology
198 0 1 4.6E-03 0 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation
59 0 1 1.3E-02 0 0
CUI: C4023551
Disease: Abnormality of dental color
Abnormality of dental color
11 0 1 3.4E-02 0 0