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: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 5 9.6E-02 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 1 2.1E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 1 1.6E-02 0 0
CUI: C0270858
Disease: Abdominal Migraine
Abdominal Migraine 		9 0 1 2.2E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 2 5.9E-03 0 0
CUI: C0238577
Disease: Abdominal wall defect
Abdominal wall defect 		8 0 1 2.3E-02 0 0
CUI: C1969516
Disease: Aberrant melanosome maturation
Aberrant melanosome maturation 		1 0 1 2.7E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 4 4.2E-03 0 0
CUI: C4073008
Disease: Abnormal best corrected visual acuity test
Abnormal best corrected visual acuity test 		2 0 1 2.6E-02 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 5 4.7E-02 0 0
CUI: C4025836
Disease: Abnormal choroid morphology
Abnormal choroid morphology 		12 0 1 2.1E-02 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		59 0 3 3.2E-02 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 1 8.0E-03 0 0
CUI: C4025849
Disease: Abnormal foveal morphology
Abnormal foveal morphology 		5 0 1 2.4E-02 0 0
CUI: C4073083
Disease: Abnormal foveal morphology on macular OCT
Abnormal foveal morphology on macular OCT 		1 0 1 2.7E-02 0 0
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		42 0 5 6.8E-02 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		6 0 1 2.4E-02 0 0
CUI: C1834387
Disease: Abnormal iris pigmentation
Abnormal iris pigmentation 		2 0 1 2.6E-02 0 0
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology 		30 0 3 4.7E-02 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		45 0 1 1.2E-02 0 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		58 0 1 1.1E-02 0 0
CUI: C4023146
Disease: Abnormal platelet granules
Abnormal platelet granules 		4 0 2 5.1E-02 0 0
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		13 0 1 2.0E-02 0 0
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		13 8 2 4.2E-02 2 0.12
CUI: C1856023
Disease: Abnormal vagina morphology
Abnormal vagina morphology 		12 0 1 2.1E-02 0 0