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: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		26 0 21 0.23 0 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		31 0 21 0.22 0 0
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 28 0.22 0 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 23 0.19 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 18 0.18 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 0 21 0.17 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 23 0.17 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 0 31 0.16 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 0 24 0.16 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 25 0.15 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 24 0.15 0 0
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		87 0 22 0.15 0 0
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		255 282 43 0.14 16 5.4E-02
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 29 0.14 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 24 0.14 0 0
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		92 0 22 0.14 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 0 22 0.14 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 0 29 0.14 0 0
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		99 50 22 0.14 4 5.4E-02
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 20 0.13 0 0
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		78 37 18 0.12 4 6.6E-02
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 28 0.12 0 0
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		119 43 21 0.11 5 7.6E-02
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		57 0 14 0.11 0 0
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		58 0 14 0.11 0 0