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: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		48 0 1 2.1E-02 0 0
CUI: C0334663
Disease: Histiocytic sarcoma
Histiocytic sarcoma 		69 0 1 1.4E-02 0 0
CUI: C0024302
Disease: Reticulosarcoma
Reticulosarcoma 		80 0 1 1.3E-02 0 0
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		83 0 1 1.2E-02 0 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		86 0 1 1.2E-02 0 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 0 1 1.1E-02 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 1 9.9E-03 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 1 6.3E-03 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 1 5.2E-03 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 1 4.7E-03 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 1 4.6E-03 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 0 1 4.6E-03 0 0
CUI: C0085636
Disease: Photophobia
Photophobia 		227 0 1 4.4E-03 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 1 4.2E-03 0 0
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		254 0 1 3.9E-03 0 0
CUI: C0022578
Disease: Keratoconus
Keratoconus 		269 0 1 3.7E-03 0 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 1 3.4E-03 0 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 0 1 3.3E-03 0 0
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia 		385 0 1 2.6E-03 0 0
CUI: C0456909
Disease: Blindness
Blindness 		393 34 1 2.5E-03 1 2.9E-02
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		400 0 1 2.5E-03 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 1 2.5E-03 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 1 2.4E-03 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 1 2.3E-03 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 1 1.9E-03 0 0