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 1 7.9E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 1.0E-02 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 1 1.6E-02 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		12 0 2 3.8E-02 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 1 1.9E-02 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 1 1.4E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 3 4.7E-02 0 0
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency 		8 0 1 2.0E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 3 2.1E-02 0 0
CUI: C1112209
Disease: Abdominal Infection
Abdominal Infection 		23 0 1 1.6E-02 0 0
CUI: C0000734
Disease: Abdominal mass
Abdominal mass 		2 0 1 2.3E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 4 1.2E-02 0 0
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness 		9 0 1 2.0E-02 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		65 0 1 9.4E-03 0 0
CUI: C4025244
Disease: Abnormal atrioventricular conduction
Abnormal atrioventricular conduction 		7 0 2 4.3E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 6 6.3E-03 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 1 8.6E-03 0 0
CUI: C4022798
Disease: Abnormal brain FDG positron emission tomography
Abnormal brain FDG positron emission tomography 		18 0 1 1.7E-02 0 0
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology 		12 0 2 3.8E-02 0 0
CUI: C0743002
Disease: Abnormal Deep Tendon Reflex
Abnormal Deep Tendon Reflex 		5 0 1 2.2E-02 0 0
CUI: C4023760
Disease: Abnormal elasticity of skin
Abnormal elasticity of skin 		1 0 1 2.4E-02 0 0
CUI: C4022922
Disease: Abnormal enzyme/coenzyme activity
Abnormal enzyme/coenzyme activity 		13 0 1 1.9E-02 0 0
CUI: C4025825
Disease: Abnormal external genitalia
Abnormal external genitalia 		3 0 1 2.3E-02 0 0
CUI: C4022925
Disease: Abnormal eye morphology
Abnormal eye morphology 		1 0 1 2.4E-02 0 0
CUI: C4025109
Disease: Abnormal hand morphology
Abnormal hand morphology 		5 0 1 2.2E-02 0 0