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: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 1 1.3E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 1 1.1E-02 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 2 1.9E-02 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 0 2 2.0E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 2 1.9E-02 0 0
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2 		16 0 1 1.3E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 1 6.1E-03 0 0
CUI: C1291077
Disease: Abdominal bloating
Abdominal bloating 		10 0 1 1.4E-02 0 0
CUI: C0000735
Disease: Abdominal Neoplasms
Abdominal Neoplasms 		13 0 1 1.3E-02 0 0
CUI: C2930930
Disease: Abdominal obesity metabolic syndrome
Abdominal obesity metabolic syndrome 		10 0 1 1.4E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 9 2.5E-02 0 0
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness 		9 0 1 1.4E-02 0 0
CUI: C1879526
Disease: Aberrant Crypt Foci
Aberrant Crypt Foci 		7 0 2 2.9E-02 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		65 0 2 1.6E-02 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		41 0 1 9.7E-03 0 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		29 0 1 1.1E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 12 1.2E-02 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 1 7.3E-03 0 0
CUI: C0231557
Disease: Abnormal bone formation
Abnormal bone formation 		12 0 1 1.4E-02 0 0
CUI: C4476564
Disease: Abnormal brain lactate level by MRS
Abnormal brain lactate level by MRS 		2 0 1 1.6E-02 0 0
CUI: C4280765
Disease: Abnormal C-peptide level
Abnormal C-peptide level 		14 0 1 1.3E-02 0 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		32 0 1 1.1E-02 0 0
CUI: C4025680
Disease: Abnormal cartilage morphology
Abnormal cartilage morphology 		2 0 1 1.6E-02 0 0
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		17 0 1 1.3E-02 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		44 0 1 9.4E-03 0 0