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: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 51 0.60 0 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		31 0 28 0.44 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 28 0.41 0 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 32 0.36 0 0
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		26 0 22 0.34 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 0 33 0.27 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 33 0.26 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 34 0.25 0 0
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 26 0.25 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 44 0.22 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 29 0.21 0 0
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1 		49 0 19 0.21 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 11 26 0.20 1 8.3E-02
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		92 0 26 0.20 0 0
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		87 0 25 0.20 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 0 26 0.20 0 0
CUI: C1836047
Disease: Long face
Long face 		182 0 41 0.20 0 0
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		26 0 14 0.19 0 0
CUI: C2112129
Disease: Postaxial foot polydactyly
Postaxial foot polydactyly 		45 0 17 0.19 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 0 32 0.19 0 0
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology 		19 0 12 0.18 0 0
CUI: C0431564
Disease: Lobulated tongue
Lobulated tongue 		14 0 11 0.17 0 0
CUI: C0152427
Disease: Polydactyly
Polydactyly 		188 43 36 0.17 1 2.3E-02
CUI: C4021813
Disease: Oral cleft
Oral cleft 		85 0 21 0.17 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 21 0.16 0 0