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 1.4E-02 0 0
CUI: C3277849
Disease: 17,20-Lyase Deficiency, Isolated
17,20-Lyase Deficiency, Isolated 		1 0 1 1.8E-02 0 0
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		4 0 1 1.7E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 2 1.4E-02 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 3 2.8E-02 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 0 1 1.1E-02 0 0
CUI: C4023115
Disease: 3-4 finger cutaneous syndactyly
3-4 finger cutaneous syndactyly 		3 0 1 1.7E-02 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 1 1.2E-02 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 1 1.2E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 1 1.2E-02 0 0
CUI: C0265404
Disease: 4q partial monosomy syndrome
4q partial monosomy syndrome 		1 0 1 1.8E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 1 6.3E-03 0 0
CUI: C4025244
Disease: Abnormal atrioventricular conduction
Abnormal atrioventricular conduction 		7 0 1 1.6E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 5 5.2E-03 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 4 3.1E-02 0 0
CUI: C4023161
Disease: Abnormal bone ossification
Abnormal bone ossification 		3 0 1 1.7E-02 0 0
CUI: C4025680
Disease: Abnormal cartilage morphology
Abnormal cartilage morphology 		2 0 1 1.7E-02 0 0
CUI: C4476724
Disease: Abnormal cellular phenotype
Abnormal cellular phenotype 		4 0 1 1.7E-02 0 0
CUI: C0857898
Disease: Abnormal circulating aldosterone
Abnormal circulating aldosterone 		2 0 1 1.7E-02 0 0
CUI: C4023222
Disease: Abnormal electrophysiology of sinoatrial node origin
Abnormal electrophysiology of sinoatrial node origin 		1 0 1 1.8E-02 0 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		29 0 2 2.4E-02 0 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology 		39 0 2 2.1E-02 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 1 6.9E-03 0 0
CUI: C3280303
Disease: Abnormal hair whorl
Abnormal hair whorl 		5 0 1 1.6E-02 0 0
CUI: C4531142
Disease: Abnormal lymphocyte physiology
Abnormal lymphocyte physiology 		1 0 1 1.8E-02 0 0