Source: CLINVAR ×
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: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		78 218 17 0.19 6 2.0E-02
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		88 420 17 0.17 8 1.6E-02
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		25 0 7 0.15 0 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		20 30 6 0.14 1 8.4E-03
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		21 29 6 0.14 2 1.7E-02
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		5 21 4 0.14 7 6.7E-02
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		7 10 4 0.13 1 1.0E-02
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		6 210 3 9.7E-02 3 1.0E-02
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		9 0 3 8.8E-02 0 0
CUI: C0456909
Disease: Blindness
Blindness 		15 0 3 7.5E-02 0 0
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		16 0 3 7.3E-02 0 0
CUI: C0005754
Disease: Congenital blindness
Congenital blindness 		2 0 2 7.1E-02 0 0
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		2 0 2 7.1E-02 0 0
CUI: C1828210
Disease: Macular dystrophy, concentric annular
Macular dystrophy, concentric annular 		2 5 2 7.1E-02 1 1.1E-02
CUI: C1860405
Disease: Snowflake vitreoretinal degeneration
Snowflake vitreoretinal degeneration 		2 0 2 7.1E-02 0 0
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		2 17 2 7.1E-02 2 1.9E-02
CUI: C3280062
Disease: LEBER CONGENITAL AMAUROSIS 16
LEBER CONGENITAL AMAUROSIS 16 		2 5 2 7.1E-02 1 1.1E-02
CUI: C0700501
Disease: Congenital nystagmus
Congenital nystagmus 		3 0 2 6.9E-02 0 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		3 0 2 6.9E-02 0 0
CUI: C1301509
Disease: Severe visual impairment
Severe visual impairment 		4 5 2 6.7E-02 1 1.1E-02
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		4 0 2 6.7E-02 0 0
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		5 0 2 6.5E-02 0 0
CUI: C0234629
Disease: Abnormal color vision
Abnormal color vision 		5 0 2 6.5E-02 0 0
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		7 27 2 6.1E-02 2 1.7E-02
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		26 175 3 5.9E-02 5 1.9E-02