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 1.5E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 2 1.5E-02 0 0
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		4 0 1 2.0E-02 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		12 0 1 1.7E-02 0 0
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		5 0 1 1.9E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 1 2.9E-03 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level 		16 0 1 1.6E-02 0 0
CUI: C4025834
Disease: Abnormal amplitude of pattern reversal visual evoked potentials
Abnormal amplitude of pattern reversal visual evoked potentials 		1 0 1 2.1E-02 0 0
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		11 0 1 1.7E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 6 6.3E-03 0 0
CUI: C4022749
Disease: Abnormal brainstem MRI signal intensity
Abnormal brainstem MRI signal intensity 		5 0 1 1.9E-02 0 0
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		9 0 2 3.6E-02 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 1 1.2E-02 0 0
CUI: C4025858
Disease: Abnormal cochlea morphology
Abnormal cochlea morphology 		16 0 1 1.6E-02 0 0
CUI: C0234629
Disease: Abnormal color vision
Abnormal color vision 		5 5 2 3.9E-02 2 0.14
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		7 5 3 5.8E-02 2 0.14
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		59 0 3 2.9E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 2 1.7E-02 0 0
CUI: C4023607
Disease: Abnormal corpus striatum morphology
Abnormal corpus striatum morphology 		5 0 1 1.9E-02 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 3 3.9E-02 1 2.1E-02
CUI: C4022922
Disease: Abnormal enzyme/coenzyme activity
Abnormal enzyme/coenzyme activity 		13 0 1 1.7E-02 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 1 7.4E-03 0 0
CUI: C4025706
Disease: Abnormal globus pallidus morphology
Abnormal globus pallidus morphology 		10 0 1 1.8E-02 0 0
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		42 0 1 1.1E-02 0 0
CUI: C0392702
Disease: Abnormal involuntary movement
Abnormal involuntary movement 		22 0 1 1.4E-02 0 0