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: C3697269
Disease: 15q24 Microdeletion
15q24 Microdeletion 		5 0 1 3.4E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 3 2.8E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 1 2.0E-02 0 0
CUI: C4304526
Disease: 5q35 microduplication syndrome
5q35 microduplication syndrome 		1 0 1 4.0E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 2 3.1E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 1 3.1E-03 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		41 0 1 1.5E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 121 7 7.5E-03 1 8.1E-03
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 2 3.4E-02 0 0
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		0 5 0 0 1 0.14
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		9 0 1 3.0E-02 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		44 0 1 1.5E-02 0 0
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology 		10 0 2 6.1E-02 0 0
CUI: C1859481
Disease: Abnormal finger flexion creases
Abnormal finger flexion creases 		0 1 0 0 1 0.33
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 3 2.7E-02 0 0
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		29 0 3 5.9E-02 0 0
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		42 0 3 4.7E-02 0 0
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state 		24 0 1 2.1E-02 0 0
CUI: C4022453
Disease: Abnormal morphology of ulna
Abnormal morphology of ulna 		1 0 1 4.0E-02 0 0
CUI: C4025835
Disease: Abnormal nasolacrimal system morphology
Abnormal nasolacrimal system morphology 		23 0 2 4.3E-02 0 0
CUI: C4023573
Disease: Abnormal number of permanent teeth
Abnormal number of permanent teeth 		9 0 1 3.0E-02 0 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		40 0 2 3.2E-02 0 0
CUI: C4025831
Disease: Abnormal peripheral nervous system morphology
Abnormal peripheral nervous system morphology 		4 0 1 3.6E-02 0 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		21 0 1 2.2E-02 0 0
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		13 0 1 2.7E-02 0 0