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: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		88 420 50 0.43 32 5.3E-02
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		25 52 20 0.24 8 3.1E-02
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		28 90 17 0.19 6 2.0E-02
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		20 30 15 0.18 7 2.9E-02
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		28 41 15 0.16 1 3.9E-03
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		16 25 11 0.13 2 8.3E-03
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		21 29 11 0.12 6 2.5E-02
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		14 67 8 9.5E-02 3 1.1E-02
CUI: C0271183
Disease: Severe myopia
Severe myopia 		16 16 7 8.0E-02 3 1.3E-02
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		6 210 6 7.7E-02 22 5.4E-02
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		23 157 7 7.4E-02 3 8.1E-03
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		11 12 6 7.2E-02 1 4.4E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 83 9 6.9E-02 5 1.7E-02
CUI: C0042798
Disease: Low Vision
Low Vision 		32 41 7 6.8E-02 5 2.0E-02
CUI: C0152427
Disease: Polydactyly
Polydactyly 		24 37 6 6.2E-02 3 1.2E-02
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		9 31 5 6.1E-02 1 4.0E-03
CUI: C0456909
Disease: Blindness
Blindness 		15 18 5 5.7E-02 3 1.3E-02
CUI: C0271092
Disease: Progressive cone dystrophy (without rod involvement)
Progressive cone dystrophy (without rod involvement) 		5 6 4 5.1E-02 2 9.0E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		88 0 8 5.1E-02 0 0
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		5 21 4 5.1E-02 1 4.2E-03
CUI: C0024437
Disease: Macular degeneration
Macular degeneration 		7 9 4 4.9E-02 3 1.3E-02
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		13 17 4 4.6E-02 2 8.6E-03
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		13 62 4 4.6E-02 2 7.2E-03
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		21 52 4 4.2E-02 2 7.5E-03
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		24 28 4 4.1E-02 1 4.1E-03