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: C2047886
Disease: (Idiopathic) normal pressure hydrocephalus
(Idiopathic) normal pressure hydrocephalus 		14 0 2 5.0E-02 0 0
CUI: C4021234
Disease: 2-4 toe syndactyly
2-4 toe syndactyly 		2 0 1 3.4E-02 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 1.2E-02 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 1 1.8E-02 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 1 2.6E-02 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 1 1.4E-02 0 0
CUI: C4304529
Disease: 5q14.3 microdeletion syndrome
5q14.3 microdeletion syndrome 		1 0 1 3.6E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 1 7.7E-03 0 0
CUI: C0000735
Disease: Abdominal Neoplasms
Abdominal Neoplasms 		13 0 2 5.1E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 5 1.5E-02 0 0
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness 		9 0 1 2.8E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 11 1.2E-02 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 2 2.0E-02 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 1 1.6E-02 0 0
CUI: C4025836
Disease: Abnormal choroid morphology
Abnormal choroid morphology 		12 0 2 5.3E-02 0 0
CUI: C0234629
Disease: Abnormal color vision
Abnormal color vision 		5 0 1 3.1E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 2 2.1E-02 0 0
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		17 0 1 2.3E-02 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		44 0 2 2.9E-02 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 1 8.6E-03 0 0
CUI: C4025849
Disease: Abnormal foveal morphology
Abnormal foveal morphology 		5 0 1 3.1E-02 0 0
CUI: C4025109
Disease: Abnormal hand morphology
Abnormal hand morphology 		5 0 1 3.1E-02 0 0
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		42 0 1 1.4E-02 0 0
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation 		32 0 1 1.7E-02 0 0
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state 		24 0 3 6.1E-02 0 0