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: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		58 3 14 0.19 1 6.2E-02
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		57 2 13 0.18 1 6.7E-02
CUI: C4708599
Disease: Coloboma of choroid and retina
Coloboma of choroid and retina 		5 0 5 0.17 0 0
CUI: C4554007
Disease: Uveoretinal Coloboma
Uveoretinal Coloboma 		8 0 5 0.15 0 0
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		4 0 4 0.13 0 0
CUI: C0344516
Disease: Coloboma of lens
Coloboma of lens 		5 0 4 0.13 0 0
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		129 21 17 0.12 3 9.4E-02
CUI: C1855284
Disease: Intrahepatic biliary atresia
Intrahepatic biliary atresia 		9 0 4 0.11 0 0
CUI: C1852767
Disease: Hereditary macular coloboma
Hereditary macular coloboma 		11 0 4 0.11 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 17 0.11 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 6 0.10 0 0
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1 		49 0 7 9.7E-02 0 0
CUI: C4020922
Disease: Enlarged fossa interpeduncularis
Enlarged fossa interpeduncularis 		4 0 3 9.7E-02 0 0
CUI: C1855677
Disease: Brainstem dysplasia
Brainstem dysplasia 		5 0 3 9.4E-02 0 0
CUI: C3806216
Disease: Neonatal breathing dysregulation
Neonatal breathing dysregulation 		5 0 3 9.4E-02 0 0
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		89 0 10 9.2E-02 0 0
CUI: C4024644
Disease: Multiple small medullary renal cysts
Multiple small medullary renal cysts 		6 0 3 9.1E-02 0 0
CUI: C0266544
Disease: Microcornea
Microcornea 		129 0 13 8.9E-02 0 0
CUI: C4023916
Disease: Aplasia/Hypoplasia of the tongue
Aplasia/Hypoplasia of the tongue 		19 0 4 8.9E-02 0 0
CUI: C4551631
Disease: Cystic liver disease
Cystic liver disease 		19 0 4 8.9E-02 0 0
CUI: C0175692
Disease: Johanson-Blizzard syndrome
Johanson-Blizzard syndrome 		7 0 3 8.8E-02 0 0
CUI: C3810214
Disease: Elongated superior cerebellar peduncle
Elongated superior cerebellar peduncle 		7 0 3 8.8E-02 0 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		33 0 5 8.6E-02 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 0 14 8.3E-02 0 0
CUI: C1610065
Disease: Urethral atresia
Urethral atresia 		23 0 4 8.2E-02 0 0