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: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		4 0 1 2.9E-02 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		12 0 2 4.8E-02 0 0
CUI: C0000734
Disease: Abdominal mass
Abdominal mass 		2 0 1 3.0E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 2 6.0E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 12 1.3E-02 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 1 9.4E-03 0 0
CUI: C4025752
Disease: Abnormal cardiac ventricle morphology
Abnormal cardiac ventricle morphology 		2 0 1 3.0E-02 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		41 0 1 1.4E-02 0 0
CUI: C0392702
Disease: Abnormal involuntary movement
Abnormal involuntary movement 		22 0 1 1.9E-02 0 0
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state 		24 0 1 1.8E-02 0 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		55 0 1 1.2E-02 0 0
CUI: C4025845
Disease: Abnormality iris morphology
Abnormality iris morphology 		27 0 1 1.7E-02 0 0
CUI: C4023591
Disease: Abnormality of circulating enzyme level
Abnormality of circulating enzyme level 		6 0 1 2.7E-02 0 0
CUI: C4023551
Disease: Abnormality of dental color
Abnormality of dental color 		11 0 1 2.4E-02 0 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		96 0 1 7.9E-03 0 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		86 0 1 8.5E-03 0 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		171 0 1 5.0E-03 0 0
CUI: C4021734
Disease: Abnormality of mitochondrial metabolism
Abnormality of mitochondrial metabolism 		21 0 1 1.9E-02 0 0
CUI: C4025660
Disease: Abnormality of the ankles
Abnormality of the ankles 		17 0 1 2.1E-02 0 0
CUI: C4024167
Disease: Abnormality of the antitragus
Abnormality of the antitragus 		7 0 1 2.6E-02 0 0
CUI: C0151583
Disease: Abnormality of the cerebrospinal fluid
Abnormality of the cerebrospinal fluid 		3 0 1 2.9E-02 0 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		140 0 5 3.0E-02 0 0
CUI: C4021816
Disease: Abnormality of the gingiva
Abnormality of the gingiva 		13 0 2 4.7E-02 0 0
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		40 0 1 1.4E-02 0 0
CUI: C4025676
Disease: Abnormality of the knee
Abnormality of the knee 		10 0 1 2.4E-02 0 0