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: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 1 7.6E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 2 1.0E-02 0 0
CUI: C4021622
Disease: 2-4 toe cutaneous syndactyly
2-4 toe cutaneous syndactyly 		1 0 1 8.8E-03 0 0
CUI: C1834062
Disease: 3-4 toe syndactyly
3-4 toe syndactyly 		4 0 1 8.6E-03 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 1 7.6E-03 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		3 0 1 8.7E-03 0 0
CUI: C1848678
Disease: 4-Hydroxyphenylpyruvic aciduria
4-Hydroxyphenylpyruvic aciduria 		2 0 1 8.8E-03 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 2 1.6E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 1 7.3E-03 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 1 6.5E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 1 4.7E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 15 3.7E-02 0 0
CUI: C0238577
Disease: Abdominal wall defect
Abdominal wall defect 		8 0 1 8.3E-03 0 0
CUI: C0266574
Disease: Ablepharon
Ablepharon 		20 0 2 1.5E-02 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		41 0 1 6.5E-03 0 0
CUI: C4021524
Disease: Abnormal adipose tissue morphology
Abnormal adipose tissue morphology 		6 0 1 8.5E-03 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level 		16 0 14 0.12 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 22 2.2E-02 0 0
CUI: C4073008
Disease: Abnormal best corrected visual acuity test
Abnormal best corrected visual acuity test 		2 0 1 8.8E-03 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 6 3.3E-02 0 0
CUI: C0231557
Disease: Abnormal bone formation
Abnormal bone formation 		12 0 1 8.1E-03 0 0
CUI: C4023161
Disease: Abnormal bone ossification
Abnormal bone ossification 		3 0 1 8.7E-03 0 0
CUI: C4022798
Disease: Abnormal brain FDG positron emission tomography
Abnormal brain FDG positron emission tomography 		18 0 2 1.6E-02 0 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		32 0 8 5.8E-02 0 0
CUI: C4025680
Disease: Abnormal cartilage morphology
Abnormal cartilage morphology 		2 0 2 1.8E-02 0 0