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: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 30 0.29 0 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		31 0 29 0.28 0 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 34 0.27 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 0 33 0.26 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 35 0.25 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 40 0.24 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 187 35 0.22 4 1.9E-02
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		26 0 22 0.21 0 0
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 29 0.21 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 0 41 0.20 0 0
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		92 0 32 0.20 0 0
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		87 0 31 0.20 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 0 31 0.19 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 42 0.18 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 37 0.18 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 12 37 0.17 2 5.6E-02
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 9 32 0.16 3 9.4E-02
CUI: C1836047
Disease: Long face
Long face 		182 0 37 0.15 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 42 0.15 1 2.3E-02
CUI: C4021813
Disease: Oral cleft
Oral cleft 		85 0 24 0.15 0 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		33 0 17 0.15 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 26 0.15 0 0
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		57 0 20 0.15 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 29 38 0.15 1 1.9E-02
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		58 0 20 0.14 0 0