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: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 1 2.9E-02 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 1 5.9E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 2 1.9E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 1 3.2E-03 0 0
CUI: C4073008
Disease: Abnormal best corrected visual acuity test
Abnormal best corrected visual acuity test 		2 0 1 0.12 0 0
CUI: C4021847
Disease: Abnormal cartilage collagen
Abnormal cartilage collagen 		1 0 1 0.14 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 1 2.4E-02 0 0
CUI: C4021787
Disease: Abnormal diaphysis morphology
Abnormal diaphysis morphology 		11 0 1 5.9E-02 0 0
CUI: C4025628
Disease: Abnormal enchondral ossification
Abnormal enchondral ossification 		4 0 1 1.0E-01 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 1 1.1E-02 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		6 0 1 8.3E-02 0 0
CUI: C4022996
Disease: Abnormal sex determination
Abnormal sex determination 		15 0 1 4.8E-02 0 0
CUI: C4020803
Disease: Abnormal type II collagen
Abnormal type II collagen 		1 0 1 0.14 0 0
CUI: C1856023
Disease: Abnormal vagina morphology
Abnormal vagina morphology 		12 0 2 0.12 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		115 0 3 2.5E-02 0 0
CUI: C4025356
Disease: Abnormal vitreous humor morphology
Abnormal vitreous humor morphology 		2 0 2 0.29 0 0
CUI: C4025845
Disease: Abnormality iris morphology
Abnormality iris morphology 		27 0 1 3.0E-02 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 2 9.9E-03 0 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		86 0 1 1.1E-02 0 0
CUI: C4025664
Disease: Abnormality of fibula morphology
Abnormality of fibula morphology 		4 0 1 1.0E-01 0 0
CUI: C4021945
Disease: Abnormality of globe size
Abnormality of globe size 		2 0 1 0.12 0 0
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		55 0 1 1.6E-02 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 1 4.5E-03 0 0
CUI: C4021664
Disease: Abnormality of the abdominal wall
Abnormality of the abdominal wall 		17 0 1 4.3E-02 0 0
CUI: C1840535
Disease: Abnormality of the carpal bones
Abnormality of the carpal bones 		6 0 1 8.3E-02 0 0