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: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 1.2E-02 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 1 2.4E-02 0 0
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency 		8 0 1 2.9E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 1 1.4E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 2 1.6E-02 0 0
CUI: C0000735
Disease: Abdominal Neoplasms
Abdominal Neoplasms 		13 0 1 2.5E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 3 9.2E-03 0 0
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness 		9 0 1 2.8E-02 0 0
CUI: C0266574
Disease: Ablepharon
Ablepharon 		20 0 2 4.3E-02 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		41 0 2 3.0E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 8 8.6E-03 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		44 0 1 1.4E-02 0 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology 		39 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 1.7E-02 0 0
CUI: C0263634
Disease: Abnormal granulation tissue
Abnormal granulation tissue 		6 0 1 3.0E-02 0 0
CUI: C0240083
Disease: Abnormal joint morphology
Abnormal joint morphology 		6 0 1 3.0E-02 0 0
CUI: C4025715
Disease: Abnormal large intestine morphology
Abnormal large intestine morphology 		2 0 1 3.4E-02 0 0
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation 		32 0 1 1.7E-02 0 0
CUI: C4025835
Disease: Abnormal nasolacrimal system morphology
Abnormal nasolacrimal system morphology 		23 0 1 2.0E-02 0 0
CUI: C4022448
Disease: Abnormal prolactin level
Abnormal prolactin level 		9 0 1 2.8E-02 0 0
CUI: C4025250
Disease: Abnormal sacrum morphology
Abnormal sacrum morphology 		17 0 1 2.3E-02 0 0
CUI: C4072899
Disease: Abnormal serum interferon-gamma level
Abnormal serum interferon-gamma level 		2 0 1 3.4E-02 0 0
CUI: C4021087
Disease: Abnormal social behavior
Abnormal social behavior 		19 0 1 2.2E-02 0 0
CUI: C1859347
Disease: Abnormal subcutaneous fat tissue distribution
Abnormal subcutaneous fat tissue distribution 		9 0 1 2.8E-02 0 0
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology 		28 0 1 1.8E-02 0 0