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: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency 		8 0 1 3.1E-02 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 1 1.4E-02 0 0
CUI: C0740651
Disease: Abdominal symptom
Abdominal symptom 		17 0 1 2.4E-02 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		41 0 1 1.5E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 2 2.1E-03 0 0
CUI: C4025836
Disease: Abnormal choroid morphology
Abnormal choroid morphology 		12 0 5 0.16 0 0
CUI: C4025849
Disease: Abnormal foveal morphology
Abnormal foveal morphology 		5 0 5 0.20 0 0
CUI: C3151111
Disease: Abnormal light- and dark-adapted electroretinogram
Abnormal light- and dark-adapted electroretinogram 		9 0 4 0.13 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		45 0 2 2.9E-02 0 0
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		13 0 1 2.7E-02 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		115 0 2 1.4E-02 0 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		55 0 5 6.7E-02 0 0
CUI: C4703439
Disease: Abnormality of fundus pigmentation
Abnormality of fundus pigmentation 		14 0 2 5.4E-02 0 0
CUI: C4082761
Disease: Abnormality of limb bone morphology
Abnormality of limb bone morphology 		3 0 1 3.7E-02 0 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		171 0 1 5.1E-03 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 12 5.3E-02 0 0
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		55 0 1 1.3E-02 0 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		56 0 3 3.8E-02 0 0
CUI: C4021745
Disease: Abnormality of the musculature
Abnormality of the musculature 		24 0 1 2.1E-02 0 0
CUI: C3808249
Disease: Abnormality of the optic disc
Abnormality of the optic disc 		26 0 2 4.1E-02 0 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		69 0 1 1.1E-02 0 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		127 0 1 6.6E-03 0 0
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		205 0 1 4.4E-03 0 0
CUI: C0431448
Disease: Absent eyebrow
Absent eyebrow 		19 0 1 2.3E-02 0 0
CUI: C0423420
Disease: Absent foveal reflex
Absent foveal reflex 		6 0 2 6.9E-02 0 0