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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 2 1.8E-02 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 1.2E-02 0 0
CUI: C4304537
Disease: 2p21 microdeletion syndrome
2p21 microdeletion syndrome 		4 0 1 3.1E-02 0 0
CUI: C4749458
Disease: 2p21 microdeletion syndrome without cystinuria
2p21 microdeletion syndrome without cystinuria 		2 0 1 3.3E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 1 1.9E-02 0 0
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		5 0 1 3.0E-02 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 0 3 4.7E-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 1 2.6E-02 0 0
CUI: C1112209
Disease: Abdominal Infection
Abdominal Infection 		23 0 1 2.0E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 2 6.1E-03 0 0
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness 		9 0 1 2.7E-02 0 0
CUI: C0266574
Disease: Ablepharon
Ablepharon 		20 0 1 2.1E-02 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		41 0 1 1.4E-02 0 0
CUI: C4022745
Disease: Abnormal basal ganglia MRI signal intensity
Abnormal basal ganglia MRI signal intensity 		7 0 1 2.9E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 17 1.8E-02 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 1 9.7E-03 0 0
CUI: C4022798
Disease: Abnormal brain FDG positron emission tomography
Abnormal brain FDG positron emission tomography 		18 0 2 4.4E-02 0 0
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		7 0 1 2.9E-02 0 0
CUI: C4022925
Disease: Abnormal eye morphology
Abnormal eye morphology 		1 0 1 3.4E-02 0 0
CUI: C4018849
Disease: Abnormal fear/anxiety-related behavior
Abnormal fear/anxiety-related behavior 		5 0 1 3.0E-02 0 0
CUI: C0263634
Disease: Abnormal granulation tissue
Abnormal granulation tissue 		6 0 1 2.9E-02 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		6 0 1 2.9E-02 0 0
CUI: C0392702
Disease: Abnormal involuntary movement
Abnormal involuntary movement 		22 0 1 2.0E-02 0 0