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: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		10 0 1 7.1E-02 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 1.7E-02 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 1 1.0E-01 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 1 9.3E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 1 3.3E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 2 2.2E-03 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		41 0 1 2.2E-02 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: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology 		30 0 1 2.9E-02 0 0
CUI: C4025901
Disease: Abnormality of body height
Abnormality of body height 		18 0 1 4.5E-02 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 2 1.0E-02 0 0
CUI: C4025899
Disease: Abnormality of male internal genitalia
Abnormality of male internal genitalia 		5 0 1 0.11 0 0
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		55 0 1 1.7E-02 0 0
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle 		42 0 1 2.2E-02 0 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		140 0 1 6.9E-03 0 0
CUI: C4025622
Disease: Abnormality of the femoral neck or head region
Abnormality of the femoral neck or head region 		1 0 1 0.20 0 0
CUI: C4025751
Disease: Abnormality of the pancreas
Abnormality of the pancreas 		13 0 1 5.9E-02 0 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		69 0 1 1.4E-02 0 0
CUI: C0235942
Disease: Abnormality of the skull
Abnormality of the skull 		4 0 1 0.12 0 0
CUI: C4021789
Disease: Abnormality of the vertebral column
Abnormality of the vertebral column 		24 0 1 3.6E-02 0 0
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice 		64 0 1 1.5E-02 0 0
CUI: C1846228
Disease: Absence of pubertal development
Absence of pubertal development 		24 0 1 3.6E-02 0 0
CUI: C4021551
Disease: Absence of secondary sex characteristics
Absence of secondary sex characteristics 		44 0 1 2.1E-02 0 0
CUI: C0278134
Disease: Absence of sensation
Absence of sensation 		111 0 1 8.7E-03 0 0
CUI: C0271004
Disease: Absent anterior chamber of eye
Absent anterior chamber of eye 		2 0 1 0.17 0 0