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: C1840457
Disease: Retinal pigment epithelial atrophy
Retinal pigment epithelial atrophy 		25 0 19 8.2E-02 0 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		241 0 34 7.8E-02 0 0
CUI: C0423421
Disease: Atrophic macular change
Atrophic macular change 		24 0 18 7.7E-02 0 0
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		155 0 27 7.6E-02 0 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		77 0 21 7.4E-02 0 0
CUI: C0543968
Disease: Cone dysfunction syndrome
Cone dysfunction syndrome 		25 0 17 7.2E-02 0 0
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		137 0 24 7.1E-02 0 0
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		685 0 60 7.0E-02 0 0
CUI: C0085582
Disease: Retrobulbar Neuritis
Retrobulbar Neuritis 		18 0 16 7.0E-02 0 0
CUI: C0151908
Disease: Dry skin
Dry skin 		159 0 25 6.9E-02 0 0
CUI: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding) 		25 0 16 6.8E-02 0 0
CUI: C1519353
Disease: Skin Papule
Skin Papule 		74 0 19 6.7E-02 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 19 6.7E-02 0 0
CUI: C0332563
Disease: Papule
Papule 		76 0 19 6.7E-02 0 0
CUI: C0042798
Disease: Low Vision
Low Vision 		157 0 24 6.7E-02 0 0
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		112 0 21 6.6E-02 0 0
CUI: C0031046
Disease: Pericarditis
Pericarditis 		51 0 17 6.5E-02 0 0
CUI: C1301509
Disease: Severe visual impairment
Severe visual impairment 		35 0 16 6.5E-02 0 0
CUI: C4025758
Disease: Abnormal myocardium morphology
Abnormal myocardium morphology 		19 0 15 6.5E-02 0 0
CUI: C0151740
Disease: Intracranial Hypertension
Intracranial Hypertension 		72 0 18 6.4E-02 0 0
CUI: C0027543
Disease: Avascular necrosis of bone
Avascular necrosis of bone 		73 0 18 6.4E-02 0 0
CUI: C0009676
Disease: Confusion
Confusion 		75 0 18 6.3E-02 0 0
CUI: C3808249
Disease: Abnormality of the optic disc
Abnormality of the optic disc 		26 0 15 6.3E-02 0 0
CUI: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer 		80 0 18 6.2E-02 0 0
CUI: C0423250
Disease: Corneal stromal opacities
Corneal stromal opacities 		46 0 16 6.2E-02 0 0