Source: ALL
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: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 1.2E-02 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 1 1.6E-02 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 1 1.3E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 1 1.4E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 2 1.5E-02 0 0
CUI: C0000734
Disease: Abdominal mass
Abdominal mass 		2 0 1 3.0E-02 0 0
CUI: C0270858
Disease: Abdominal Migraine
Abdominal Migraine 		9 0 1 2.5E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 18 10 3.1E-02 1 5.6E-02
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness 		9 0 1 2.5E-02 0 0
CUI: C0266574
Disease: Ablepharon
Ablepharon 		20 0 1 2.0E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 6 6.4E-03 0 0
CUI: C4022798
Disease: Abnormal brain FDG positron emission tomography
Abnormal brain FDG positron emission tomography 		18 0 2 4.2E-02 0 0
CUI: C4477077
Disease: Abnormal cardiac exercise stress test
Abnormal cardiac exercise stress test 		16 0 1 2.1E-02 0 0
CUI: C4025680
Disease: Abnormal cartilage morphology
Abnormal cartilage morphology 		2 0 1 3.0E-02 0 0
CUI: C4025836
Disease: Abnormal choroid morphology
Abnormal choroid morphology 		12 0 1 2.3E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 1 9.9E-03 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		44 0 1 1.3E-02 0 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology 		39 0 1 1.4E-02 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 4 3.4E-02 0 0
CUI: C4025849
Disease: Abnormal foveal morphology
Abnormal foveal morphology 		5 0 1 2.8E-02 0 0
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		29 0 1 1.7E-02 0 0
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		42 0 1 1.4E-02 0 0
CUI: C4073063
Disease: Abnormal kinetic perimetry test
Abnormal kinetic perimetry test 		4 0 2 5.9E-02 0 0
CUI: C4025715
Disease: Abnormal large intestine morphology
Abnormal large intestine morphology 		2 0 1 3.0E-02 0 0
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation 		32 0 2 3.2E-02 0 0