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 1 2.4E-02 0 0
CUI: C4021234
Disease: 2-4 toe syndactyly
2-4 toe syndactyly 		2 0 1 3.3E-02 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 1.2E-02 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 1 2.6E-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: C0432470
Disease: 46, XY female
46, XY female 		25 0 2 3.8E-02 0 0
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency 		8 0 1 2.8E-02 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 0 2 3.1E-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 1 7.6E-03 0 0
CUI: C1291077
Disease: Abdominal bloating
Abdominal bloating 		10 0 2 5.4E-02 0 0
CUI: C1142214
Disease: Abdominal cocoon
Abdominal cocoon 		1 0 1 3.4E-02 0 0
CUI: C0000735
Disease: Abdominal Neoplasms
Abdominal Neoplasms 		13 0 1 2.4E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 3 9.1E-03 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		41 0 2 2.9E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 13 1.4E-02 0 0
CUI: C4025836
Disease: Abnormal choroid morphology
Abnormal choroid morphology 		12 0 1 2.5E-02 0 0
CUI: C0234629
Disease: Abnormal color vision
Abnormal color vision 		5 0 1 3.0E-02 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		44 0 2 2.8E-02 0 0
CUI: C4021662
Disease: Abnormal endocardium morphology
Abnormal endocardium morphology 		23 0 2 4.0E-02 0 0
CUI: C4025825
Disease: Abnormal external genitalia
Abnormal external genitalia 		3 0 1 3.2E-02 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 1 8.5E-03 0 0
CUI: C0263634
Disease: Abnormal granulation tissue
Abnormal granulation tissue 		6 0 2 6.1E-02 0 0
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		29 0 2 3.6E-02 0 0
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		42 0 2 2.9E-02 0 0