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: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 1 8.9E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 1 3.2E-03 0 0
CUI: C1968592
Disease: Abnormal calcification of the carpal bones
Abnormal calcification of the carpal bones 		2 0 1 9.1E-02 0 0
CUI: C4021847
Disease: Abnormal cartilage collagen
Abnormal cartilage collagen 		1 0 1 1.0E-01 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 1 2.2E-02 0 0
CUI: C4021787
Disease: Abnormal diaphysis morphology
Abnormal diaphysis morphology 		11 0 1 5.0E-02 0 0
CUI: C4025628
Disease: Abnormal enchondral ossification
Abnormal enchondral ossification 		4 0 1 7.7E-02 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 1 1.0E-02 0 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		58 0 1 1.5E-02 0 0
CUI: C4020803
Disease: Abnormal type II collagen
Abnormal type II collagen 		1 0 1 1.0E-01 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		115 0 1 8.1E-03 0 0
CUI: C4025356
Disease: Abnormal vitreous humor morphology
Abnormal vitreous humor morphology 		2 0 2 0.20 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 1 4.8E-03 0 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		86 0 2 2.1E-02 0 0
CUI: C4025664
Disease: Abnormality of fibula morphology
Abnormality of fibula morphology 		4 0 1 7.7E-02 0 0
CUI: C4021945
Disease: Abnormality of globe size
Abnormality of globe size 		2 0 1 9.1E-02 0 0
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		55 0 2 3.2E-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 3.8E-02 0 0
CUI: C1840535
Disease: Abnormality of the carpal bones
Abnormality of the carpal bones 		6 0 1 6.7E-02 0 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		140 0 2 1.4E-02 0 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		97 0 7 7.0E-02 0 0
CUI: C4316811
Disease: Abnormality of the nasal septum
Abnormality of the nasal septum 		5 0 1 7.1E-02 0 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		85 0 1 1.1E-02 0 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		148 0 3 1.9E-02 0 0