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: C4021234
Disease: 2-4 toe syndactyly
2-4 toe syndactyly 		2 0 1 2.7E-02 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 1.1E-02 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 0 1 1.5E-02 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 1 2.0E-02 0 0
CUI: C4512053
Disease: 4p16.3 microduplication syndrome
4p16.3 microduplication syndrome 		1 0 1 2.8E-02 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 1 1.3E-02 0 0
CUI: C4304526
Disease: 5q35 microduplication syndrome
5q35 microduplication syndrome 		1 0 1 2.8E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 1 1.3E-02 0 0
CUI: C0000735
Disease: Abdominal Neoplasms
Abdominal Neoplasms 		13 0 1 2.1E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 3 9.0E-03 0 0
CUI: C0238577
Disease: Abdominal wall defect
Abdominal wall defect 		8 0 2 4.8E-02 0 0
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness 		9 0 2 4.7E-02 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		41 0 1 1.3E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 11 1.2E-02 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 0 1 1.5E-02 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 2 1.6E-02 0 0
CUI: C4025715
Disease: Abnormal large intestine morphology
Abnormal large intestine morphology 		2 0 1 2.7E-02 0 0
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation 		32 0 3 4.6E-02 0 0
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state 		24 0 1 1.7E-02 0 0
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		14 0 1 2.0E-02 0 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		40 0 1 1.3E-02 0 0
CUI: C4025250
Disease: Abnormal sacrum morphology
Abnormal sacrum morphology 		17 0 2 3.9E-02 0 0
CUI: C1859347
Disease: Abnormal subcutaneous fat tissue distribution
Abnormal subcutaneous fat tissue distribution 		9 0 1 2.3E-02 0 0
CUI: C0241665
Disease: Abnormal venous morphology
Abnormal venous morphology 		2 0 1 2.7E-02 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 9 4.0E-02 0 0