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: C4274354
Disease: Severe early childhood onset retinal dystrophy
Severe early childhood onset retinal dystrophy 		1 0 1 1.00 0 0
CUI: C4707246
Disease: Biallelic RPE65 mutation associated retinal dystrophy
Biallelic RPE65 mutation associated retinal dystrophy 		1 0 1 1.00 0 0
CUI: C0233593
Disease: Eye poking
Eye poking 		2 0 1 0.50 0 0
CUI: C0155003
Disease: Blindness, Transient
Blindness, Transient 		3 0 1 0.33 0 0
CUI: C0221473
Disease: Blindness, Hysterical
Blindness, Hysterical 		3 0 1 0.33 0 0
CUI: C0339730
Disease: Blindness, Acquired
Blindness, Acquired 		3 0 1 0.33 0 0
CUI: C0376288
Disease: Amaurosis
Amaurosis 		3 0 1 0.33 0 0
CUI: C2673929
Disease: Fundus atrophy
Fundus atrophy 		3 0 1 0.33 0 0
CUI: C0750958
Disease: Blindness, Monocular
Blindness, Monocular 		4 0 1 0.25 0 0
CUI: C1291601
Disease: Deficiency of isomerase
Deficiency of isomerase 		4 0 1 0.25 0 0
CUI: C3873482
Disease: Chronic ulcerative stomatitis
Chronic ulcerative stomatitis 		5 0 1 0.20 0 0
CUI: C4049579
Disease: Keratin pearl
Keratin pearl 		5 0 1 0.20 0 0
CUI: C1837873
Disease: LEBER CONGENITAL AMAUROSIS 9 (disorder)
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		6 0 1 0.17 0 0
CUI: C1854442
Disease: SPLIT-HAND/FOOT MALFORMATION 4
SPLIT-HAND/FOOT MALFORMATION 4 		6 0 1 0.17 0 0
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		6 0 1 0.17 0 0
CUI: C1266063
Disease: Malignant eccrine spiradenoma
Malignant eccrine spiradenoma 		7 0 1 0.14 0 0
CUI: C1337014
Disease: Grade I Chondrosarcoma
Grade I Chondrosarcoma 		7 0 1 0.14 0 0
CUI: C1412016
Disease: Sweat gland carcinoma
Sweat gland carcinoma 		7 0 1 0.14 0 0
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		7 36 1 0.14 17 0.37
CUI: C1879328
Disease: Blindness both eyes NOS (disorder)
Blindness both eyes NOS (disorder) 		7 0 1 0.14 0 0
CUI: C0206713
Disease: Papilloma, Intraductal
Papilloma, Intraductal 		8 0 1 0.12 0 0
CUI: C0334318
Disease: Lipid-rich carcinoma
Lipid-rich carcinoma 		8 0 1 0.12 0 0
CUI: C0395886
Disease: Cholesteatoma, Congenital
Cholesteatoma, Congenital 		8 0 1 0.12 0 0
CUI: C1838703
Disease: Bladder Exstrophy and Epispadias Complex
Bladder Exstrophy and Epispadias Complex 		8 0 1 0.12 0 0
CUI: C3540662
Disease: Congenital Amaurosis of Retinal Origin
Congenital Amaurosis of Retinal Origin 		8 0 1 0.12 0 0