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 7 25 0.61 1 0.14
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		26 0 21 0.58 0 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 29 0.47 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 0 28 0.44 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 29 0.38 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 0 29 0.30 0 0
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 23 0.29 0 0
CUI: C0431564
Disease: Lobulated tongue
Lobulated tongue 		14 0 10 0.29 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 29 0.28 0 0
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		11 0 9 0.27 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 29 0.26 0 0
CUI: C1851853
Disease: Midline notch of upper alveolar ridge
Midline notch of upper alveolar ridge 		8 0 8 0.26 0 0
CUI: C1848595
Disease: Mesoaxial polydactyly
Mesoaxial polydactyly 		9 0 8 0.25 0 0
CUI: C1848597
Disease: Central Y-shaped metacarpal
Central Y-shaped metacarpal 		9 0 8 0.25 0 0
CUI: C1856655
Disease: Hypoplasia of olfactory tract
Hypoplasia of olfactory tract 		9 0 8 0.25 0 0
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		92 0 24 0.24 0 0
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		87 0 23 0.24 0 0
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		26 0 11 0.24 0 0
CUI: C0241438
Disease: Tongue nodules
Tongue nodules 		11 0 8 0.24 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 0 23 0.23 0 0
CUI: C4021813
Disease: Oral cleft
Oral cleft 		85 0 21 0.22 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 24 0.22 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 0 29 0.20 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 20 0.20 0 0
CUI: C0431565
Disease: Hamartoma of tongue
Hamartoma of tongue 		18 0 8 0.20 0 0