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: C4025753
Disease: Abnormal tricuspid valve morphology
Abnormal tricuspid valve morphology 		11 0 1 3.8E-02 0 0
CUI: C4025723
Disease: Abnormal upper motor neuron morphology
Abnormal upper motor neuron morphology 		20 0 1 2.9E-02 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		115 0 1 7.7E-03 0 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		55 0 1 1.4E-02 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 0 1 8.4E-03 0 0
CUI: C4023055
Disease: Abnormality of central motor conduction
Abnormality of central motor conduction 		1 0 1 6.2E-02 0 0
CUI: C4023215
Disease: Abnormality of central sensory function
Abnormality of central sensory function 		4 0 1 5.3E-02 0 0
CUI: C4025596
Disease: Abnormality of connective tissue
Abnormality of connective tissue 		4 0 1 5.3E-02 0 0
CUI: C4023353
Disease: Abnormality of coordination
Abnormality of coordination 		2 0 1 5.9E-02 0 0
CUI: C4023405
Disease: Abnormality of ocular abduction
Abnormality of ocular abduction 		1 0 1 6.2E-02 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 1 4.3E-03 0 0
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		55 11 2 2.9E-02 1 6.2E-02
CUI: C0151583
Disease: Abnormality of the cerebrospinal fluid
Abnormality of the cerebrospinal fluid 		3 0 1 5.6E-02 0 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		140 0 1 6.5E-03 0 0
CUI: C4024751
Disease: Abnormality of the extraocular muscles
Abnormality of the extraocular muscles 		4 0 2 0.11 0 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		56 0 1 1.4E-02 0 0
CUI: C4025876
Disease: Abnormality of the fontanelles or cranial sutures
Abnormality of the fontanelles or cranial sutures 		2 0 1 5.9E-02 0 0
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		40 0 1 1.8E-02 0 0
CUI: C4022395
Disease: Abnormality of the mediastinum
Abnormality of the mediastinum 		12 0 1 3.7E-02 0 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		97 0 1 8.9E-03 0 0
CUI: C4023042
Disease: Abnormality of the mitochondrion
Abnormality of the mitochondrion 		10 0 2 8.3E-02 0 0
CUI: C4021745
Disease: Abnormality of the musculature
Abnormality of the musculature 		24 0 1 2.6E-02 0 0
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		18 11 1 3.0E-02 1 6.2E-02
CUI: C4025751
Disease: Abnormality of the pancreas
Abnormality of the pancreas 		13 0 1 3.6E-02 0 0
CUI: C4021655
Disease: Abnormality of the sense of smell
Abnormality of the sense of smell 		14 0 1 3.4E-02 0 0