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: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		35 12 8 7.3E-02 4 0.11
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		4 87 4 4.8E-02 11 0.10
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		7 32 5 5.9E-02 4 7.0E-02
CUI: C4021566
Disease: Progressive cataract
Progressive cataract 		3 4 1 1.2E-02 2 6.5E-02
CUI: C4017066
Disease: ANIRIDIA, ATYPICAL
ANIRIDIA, ATYPICAL 		1 1 1 1.2E-02 1 3.4E-02
CUI: C4310841
Disease: ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE
ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE 		1 1 1 1.2E-02 1 3.4E-02
CUI: C1835698
Disease: Keratitis, hereditary
Keratitis, hereditary 		2 2 2 2.4E-02 1 3.3E-02
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		3 4 2 2.4E-02 1 3.1E-02
CUI: C3805604
Disease: FOVEAL HYPOPLASIA 1
FOVEAL HYPOPLASIA 1 		2 4 2 2.4E-02 1 3.1E-02
CUI: C0700501
Disease: Congenital nystagmus
Congenital nystagmus 		15 5 2 2.1E-02 1 3.0E-02
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		13 11 7 7.9E-02 1 2.6E-02
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos 		35 11 4 3.5E-02 1 2.6E-02
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		30 14 4 3.7E-02 1 2.4E-02
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		135 16 12 5.8E-02 1 2.3E-02
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		129 21 11 5.5E-02 1 2.0E-02
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		24 25 4 3.9E-02 1 1.9E-02
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		615 45 15 2.2E-02 1 1.4E-02
CUI: C0042798
Disease: Low Vision
Low Vision 		157 51 4 1.7E-02 1 1.3E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 14 2.1E-02 1 9.5E-03
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0 91 0 0 1 8.4E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 26 2.9E-02 1 8.1E-03
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		311 827 14 3.7E-02 1 1.2E-03
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 2 1.1E-02 0 0
CUI: C0000734
Disease: Abdominal mass
Abdominal mass 		2 0 1 1.2E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 16 4.3E-02 0 0