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: C0339537
Disease: Cone monochromatism
Cone monochromatism 		16 0 7 0.21 0 0
CUI: C0155018
Disease: Color Blindness, Acquired
Color Blindness, Acquired 		5 0 5 0.20 0 0
CUI: C0239777
Disease: Color Blindness, Green
Color Blindness, Green 		5 0 5 0.20 0 0
CUI: C0751042
Disease: Color Blindness, Inherited
Color Blindness, Inherited 		5 0 5 0.20 0 0
CUI: C0751043
Disease: Monochromatopsia
Monochromatopsia 		5 0 5 0.20 0 0
CUI: C0155016
Disease: Color Blindness, Red-Green
Color Blindness, Red-Green 		24 0 8 0.20 0 0
CUI: C0858618
Disease: Dyschromatopsia
Dyschromatopsia 		19 0 7 0.19 0 0
CUI: C4024799
Disease: Granular macular appearance
Granular macular appearance 		8 0 5 0.18 0 0
CUI: C0155015
Disease: Color Blindness, Red
Color Blindness, Red 		9 0 5 0.17 0 0
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		26 0 7 0.16 0 0
CUI: C0302129
Disease: Achromatopsia 1
Achromatopsia 1 		20 0 6 0.15 0 0
CUI: C0242225
Disease: Color blindness
Color blindness 		33 4 7 0.14 1 6.7E-02
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central 		43 0 8 0.13 0 0
CUI: C0271388
Disease: Pendular Nystagmus
Pendular Nystagmus 		25 0 5 0.11 0 0
CUI: C0543968
Disease: Cone dysfunction syndrome
Cone dysfunction syndrome 		25 0 5 0.11 0 0
CUI: C1840457
Disease: Retinal pigment epithelial atrophy
Retinal pigment epithelial atrophy 		25 0 5 0.11 0 0
CUI: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding) 		25 0 5 0.11 0 0
CUI: C3665342
Disease: Progressive Cone Dystrophy
Progressive Cone Dystrophy 		7 0 3 0.10 0 0
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		41 0 5 8.2E-02 0 0
CUI: C1854336
Disease: PARAGANGLIOMAS 3
PARAGANGLIOMAS 3 		2 9 2 8.0E-02 1 5.0E-02
CUI: C4551508
Disease: Dominant hereditary optic atrophy
Dominant hereditary optic atrophy 		16 0 3 7.9E-02 0 0
CUI: C4025629
Disease: Elevated circulating catecholamine level
Elevated circulating catecholamine level 		3 0 2 7.7E-02 0 0
CUI: C0003564
Disease: Aphonia
Aphonia 		4 0 2 7.4E-02 0 0
CUI: C0029125
Disease: Optic Atrophies, Hereditary
Optic Atrophies, Hereditary 		4 0 2 7.4E-02 0 0
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		4 67 2 7.4E-02 1 1.3E-02