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: C4476566
Disease: Abnormal brain choline level by MRS
Abnormal brain choline level by MRS 		1 1 1 1.4E-02 1 4.2E-02
CUI: C4022798
Disease: Abnormal brain FDG positron emission tomography
Abnormal brain FDG positron emission tomography 		18 0 9 0.11 0 0
CUI: C4477077
Disease: Abnormal cardiac exercise stress test
Abnormal cardiac exercise stress test 		16 0 1 1.1E-02 0 0
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		9 1 1 1.3E-02 1 4.2E-02
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology 		12 0 3 3.7E-02 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 1 9.3E-03 0 0
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility 		9 5 2 2.5E-02 2 7.4E-02
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		7 5 3 3.9E-02 2 7.4E-02
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		59 0 4 3.1E-02 0 0
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		9 4 3 3.8E-02 3 0.12
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 10 4 2.9E-02 1 3.0E-02
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		41 0 1 8.9E-03 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 6 6.1E-02 2 3.4E-02
CUI: C4021787
Disease: Abnormal diaphysis morphology
Abnormal diaphysis morphology 		11 0 1 1.2E-02 0 0
CUI: C4025190
Disease: Abnormal epiglottis morphology
Abnormal epiglottis morphology 		2 0 1 1.4E-02 0 0
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology 		10 0 1 1.2E-02 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 2 1.3E-02 0 0
CUI: C0232769
Disease: Abnormal gallbladder function
Abnormal gallbladder function 		3 1 3 4.2E-02 1 4.2E-02
CUI: C4022946
Disease: Abnormal glycosylation
Abnormal glycosylation 		6 0 1 1.3E-02 0 0
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		29 0 1 1.0E-02 0 0
CUI: C1744601
Disease: Abnormal heart beat
Abnormal heart beat 		2 0 1 1.4E-02 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		6 0 1 1.3E-02 0 0
CUI: C0240083
Disease: Abnormal joint morphology
Abnormal joint morphology 		6 0 1 1.3E-02 0 0
CUI: C4073168
Disease: Abnormal lactate dehydrogenase activity
Abnormal lactate dehydrogenase activity 		19 0 4 4.6E-02 0 0
CUI: C4477036
Disease: Abnormal location of the eyebrow
Abnormal location of the eyebrow 		1 0 1 1.4E-02 0 0