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: C4073101
Disease: Hyperautofluorescent macular lesion
Hyperautofluorescent macular lesion 		4 0 3 0.15 0 0
CUI: C3275758
Disease: Choriocapillaris atrophy
Choriocapillaris atrophy 		5 0 3 0.14 0 0
CUI: C4025849
Disease: Abnormal foveal morphology
Abnormal foveal morphology 		5 0 3 0.14 0 0
CUI: C4072987
Disease: Yellow/white lesions of the macula
Yellow/white lesions of the macula 		5 0 3 0.14 0 0
CUI: C2733564
Disease: Full thickness hole of macula lutea
Full thickness hole of macula lutea 		7 0 3 0.13 0 0
CUI: C0009398
Disease: Color vision defect
Color vision defect 		94 0 13 0.13 0 0
CUI: C1536451
Disease: Central areolar choroidal sclerosis
Central areolar choroidal sclerosis 		10 0 3 0.12 0 0
CUI: C3549703
Disease: Retinal thinning
Retinal thinning 		11 0 3 0.11 0 0
CUI: C4024742
Disease: Aplasia/Hypoplasia of the macula
Aplasia/Hypoplasia of the macula 		11 0 3 0.11 0 0
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		52 0 7 0.11 0 0
CUI: C4025836
Disease: Abnormal choroid morphology
Abnormal choroid morphology 		12 0 3 0.11 0 0
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		23 0 4 0.11 0 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		86 0 10 0.11 0 0
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		45 0 6 0.10 0 0
CUI: C0423421
Disease: Atrophic macular change
Atrophic macular change 		24 0 4 0.10 0 0
CUI: C0151583
Disease: Abnormality of the cerebrospinal fluid
Abnormality of the cerebrospinal fluid 		3 0 2 1.0E-01 0 0
CUI: C1866293
Disease: Retinal cone dystrophy 2
Retinal cone dystrophy 2 		3 0 2 1.0E-01 0 0
CUI: C3888962
Disease: POLG mutation
POLG mutation 		3 0 2 1.0E-01 0 0
CUI: C1320640
Disease: Peripheral retinal degeneration
Peripheral retinal degeneration 		4 0 2 9.5E-02 0 0
CUI: C1850303
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 		4 0 2 9.5E-02 0 0
CUI: C2931928
Disease: Mitochondrial cytopathy
Mitochondrial cytopathy 		4 0 2 9.5E-02 0 0
CUI: C0339508
Disease: Hereditary macular dystrophy
Hereditary macular dystrophy 		39 0 5 9.4E-02 0 0
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum 		39 0 5 9.4E-02 0 0
CUI: C0423420
Disease: Absent foveal reflex
Absent foveal reflex 		6 0 2 8.7E-02 0 0
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		6 0 2 8.7E-02 0 0