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 50 0.43 32 5.3E-02
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		25 52 20 0.22 12 2.6E-02
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		28 90 17 0.17 8 1.6E-02
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		20 30 14 0.15 10 2.3E-02
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		28 41 15 0.15 6 1.3E-02
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		23 157 10 9.9E-02 10 1.8E-02
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		14 67 9 9.7E-02 9 1.9E-02
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		11 12 8 8.8E-02 2 4.7E-03
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		16 25 8 8.3E-02 4 9.1E-03
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		21 29 8 7.9E-02 2 4.5E-03
CUI: C0152427
Disease: Polydactyly
Polydactyly 		24 37 8 7.7E-02 7 1.6E-02
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		24 28 7 6.7E-02 5 1.1E-02
CUI: C0271183
Disease: Severe myopia
Severe myopia 		16 16 6 6.1E-02 1 2.3E-03
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		6 210 5 5.6E-02 12 1.9E-02
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		4 0 4 4.5E-02 0 0
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		5 21 4 4.5E-02 2 4.6E-03
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		6 56 4 4.4E-02 3 6.3E-03
CUI: C0042798
Disease: Low Vision
Low Vision 		32 41 5 4.3E-02 1 2.2E-03
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		10 145 4 4.3E-02 2 3.6E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 83 6 4.2E-02 1 2.0E-03
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		13 17 4 4.1E-02 2 4.6E-03
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		13 62 4 4.1E-02 2 4.2E-03
CUI: C0456909
Disease: Blindness
Blindness 		15 0 4 4.0E-02 0 0
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		21 52 4 3.8E-02 1 2.1E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		88 257 6 3.5E-02 1 1.5E-03