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: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
215 0 105 0.16 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia
200 0 100 0.16 0 0
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
120 5 88 0.16 1 8.1E-04
CUI: C0028754
Disease: Obesity
Obesity
397 247 125 0.16 21 1.4E-02
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness
87 0 81 0.15 0 0
CUI: C0017601
Disease: Glaucoma
Glaucoma
286 94 106 0.15 3 2.3E-03
CUI: C0022578
Disease: Keratoconus
Keratoconus
106 0 82 0.15 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin
101 0 81 0.15 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal
158 0 87 0.14 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis
237 0 96 0.14 0 0
CUI: C0085636
Disease: Photophobia
Photophobia
210 0 87 0.13 0 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism
220 0 86 0.13 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
508 0 118 0.13 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy
157 0 78 0.13 0 0
CUI: C0456909
Disease: Blindness
Blindness
238 0 87 0.13 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
429 0 108 0.13 0 0
CUI: C0086543
Disease: Cataract
Cataract
561 13 121 0.12 1 8.1E-04
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss
278 0 89 0.12 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
407 0 102 0.12 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
158 0 74 0.12 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
536 0 112 0.12 0 0
Sensorineural Hearing Loss (disorder)
622 44 118 0.11 1 7.9E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
199 0 70 0.11 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
779 0 119 1.0E-01 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
779 0 119 1.0E-01 0 0