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: C0240896
Disease: Fundus coloboma
Fundus coloboma 		57 2 57 0.98 2 0.67
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 42 0.26 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 0 43 0.26 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 16 0.21 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 22 0.20 0 0
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		30 14 14 0.19 1 6.2E-02
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		129 0 28 0.18 0 0
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1 		49 0 15 0.16 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 23 0.16 0 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 16 0.16 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 0 16 0.16 0 0
CUI: C0266544
Disease: Microcornea
Microcornea 		129 0 25 0.15 0 0
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		11 0 9 0.15 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 20 0.14 0 0
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 16 0.14 0 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		31 0 11 0.14 0 0
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		89 0 18 0.14 0 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		33 0 11 0.14 0 0
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		26 0 10 0.14 0 0
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		26 0 10 0.14 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 0 18 0.13 0 0
CUI: C0040412
Disease: Fissured tongue
Fissured tongue 		36 0 11 0.13 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 0 17 0.13 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 0 22 0.12 0 0
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag 		53 0 12 0.12 0 0