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: C3898089
Disease: Orbital Melanoma
Orbital Melanoma 		1 0 1 0.20 0 0
CUI: C0239340
Disease: Edema of lower extremity
Edema of lower extremity 		2 2 1 0.17 1 0.17
CUI: C0241665
Disease: Abnormal venous morphology
Abnormal venous morphology 		2 1 1 0.17 1 0.20
CUI: C0271382
Disease: Periodic Alternating Nystagmus
Periodic Alternating Nystagmus 		2 0 1 0.17 0 0
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		16 0 3 0.17 0 0
CUI: C0344243
Disease: See-Saw Nystagmus
See-Saw Nystagmus 		2 0 1 0.17 0 0
CUI: C0346392
Disease: Nevus of choroid
Nevus of choroid 		2 0 1 0.17 0 0
CUI: C1302793
Disease: Cutaneous vascular malformation
Cutaneous vascular malformation 		2 1 1 0.17 1 0.20
CUI: C1854260
Disease: LEBER CONGENITAL AMAUROSIS 6 (disorder)
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		2 0 1 0.17 0 0
CUI: C1857618
Disease: Achromatopsia 2
Achromatopsia 2 		2 43 1 0.17 1 2.1E-02
CUI: C2673776
Disease: Vascular tortuosity
Vascular tortuosity 		2 1 1 0.17 1 0.20
CUI: C3838883
Disease: Phakomatosis cesioflammea
Phakomatosis cesioflammea 		2 0 1 0.17 0 0
CUI: C4024885
Disease: Macular hyperpigmented dermopathy
Macular hyperpigmented dermopathy 		2 1 1 0.17 1 0.20
CUI: C4476886
Disease: Abnormal vena cava morphology
Abnormal vena cava morphology 		2 1 1 0.17 1 0.20
CUI: C0007933
Disease: Meibomian Cyst
Meibomian Cyst 		3 3 1 0.14 1 0.14
CUI: C0027961
Disease: Nevus of Ota
Nevus of Ota 		3 1 1 0.14 1 0.20
CUI: C0154850
Disease: Cystoid macular retinal degeneration
Cystoid macular retinal degeneration 		3 0 1 0.14 0 0
CUI: C0524801
Disease: Retinal Neoplasms
Retinal Neoplasms 		3 0 1 0.14 0 0
CUI: C1274879
Disease: Port-wine stain with oculocutaneous melanosis
Port-wine stain with oculocutaneous melanosis 		3 0 1 0.14 0 0
CUI: C1306247
Disease: Melanotic neurilemmoma
Melanotic neurilemmoma 		3 0 1 0.14 0 0
CUI: C1859882
Disease: Pigmentation of the sclera
Pigmentation of the sclera 		3 1 1 0.14 1 0.20
CUI: C4021570
Disease: Undetectable light- and dark-adapted electroretinogram
Undetectable light- and dark-adapted electroretinogram 		11 0 2 0.14 0 0
CUI: C4025017
Disease: Fatal liver failure in infancy
Fatal liver failure in infancy 		3 0 1 0.14 0 0
CUI: C4302876
Disease: Oligocone trichromacy
Oligocone trichromacy 		3 0 1 0.14 0 0
CUI: C4329301
Disease: Anastomosing Hemangioma
Anastomosing Hemangioma 		3 0 1 0.14 0 0