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 20 0.21 0 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		31 0 20 0.20 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 26 0.19 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 35 0.17 0 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 22 0.17 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 0 35 0.17 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 28 0.17 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 0 21 0.16 0 0
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		67 0 21 0.16 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 41 0.15 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 16 0.15 0 0
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		53 0 18 0.15 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 0 23 0.14 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 0 29 0.14 0 0
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 20 0.14 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 23 0.14 0 0
CUI: C1968999
Disease: Rib segmentation abnormalities
Rib segmentation abnormalities 		12 0 12 0.13 0 0
CUI: C0266061
Disease: Open Bite
Open Bite 		38 0 15 0.13 0 0
CUI: C1849089
Disease: Broad forehead
Broad forehead 		133 0 26 0.13 0 0
CUI: C4021813
Disease: Oral cleft
Oral cleft 		85 0 20 0.13 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 0 21 0.13 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 22 0.13 0 0
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		87 0 20 0.13 0 0
CUI: C0265695
Disease: Congenital fusion of ribs
Congenital fusion of ribs 		37 0 14 0.12 0 0
CUI: C0344530
Disease: Congenital keratoglobus
Congenital keratoglobus 		46 0 15 0.12 0 0