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: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 12 145 0.93 1 8.3E-02
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		58 0 42 0.26 0 0
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		57 0 41 0.25 0 0
CUI: C0266544
Disease: Microcornea
Microcornea 		129 0 54 0.24 0 0
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		89 0 43 0.22 0 0
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		129 0 48 0.21 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 40 82 0.20 1 2.5E-02
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 43 0.20 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 0 39 0.19 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 36 0.19 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 44 0.18 0 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 32 0.18 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 37 0.18 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 35 0.17 0 0
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 31 0.17 0 0
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		37 0 26 0.16 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 0 29 0.16 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 0 40 0.16 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 25 0.16 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 0 33 0.16 0 0
CUI: C0152427
Disease: Polydactyly
Polydactyly 		188 0 44 0.15 0 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		31 0 23 0.15 0 0
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		26 0 22 0.14 0 0
CUI: C4021813
Disease: Oral cleft
Oral cleft 		85 0 29 0.14 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 0 43 0.14 0 0