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: C4020922
Disease: Enlarged fossa interpeduncularis
Enlarged fossa interpeduncularis 		4 0 4 0.57 0 0
CUI: C4025719
Disease: Dysgenesis of the cerebellar vermis
Dysgenesis of the cerebellar vermis 		4 0 4 0.57 0 0
CUI: C4021756
Disease: Thickened superior cerebellar peduncle
Thickened superior cerebellar peduncle 		4 0 3 0.38 0 0
CUI: C3806216
Disease: Neonatal breathing dysregulation
Neonatal breathing dysregulation 		5 0 3 0.33 0 0
CUI: C1859361
Disease: Twelfth rib hypoplasia
Twelfth rib hypoplasia 		2 0 2 0.29 0 0
CUI: C4024110
Disease: Abnormality of the 5th metacarpal
Abnormality of the 5th metacarpal 		2 0 2 0.29 0 0
CUI: C4024621
Disease: Early ossification of capital femoral epiphyses
Early ossification of capital femoral epiphyses 		2 0 2 0.29 0 0
CUI: C4531024
Disease: Subretinal deposits
Subretinal deposits 		2 0 2 0.29 0 0
CUI: C0175692
Disease: Johanson-Blizzard syndrome
Johanson-Blizzard syndrome 		7 0 3 0.27 0 0
CUI: C1851130
Disease: Small cervical vertebral bodies
Small cervical vertebral bodies 		3 0 2 0.25 0 0
CUI: C2675973
Disease: Open operculum
Open operculum 		3 0 2 0.25 0 0
CUI: C4023039
Disease: Rhizomelic leg shortening
Rhizomelic leg shortening 		3 0 2 0.25 0 0
CUI: C4518774
Disease: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Joubert syndrome with Jeune asphyxiating thoracic dystrophy 		3 0 2 0.25 0 0
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		4 0 2 0.22 0 0
CUI: C1968618
Disease: Tubular basement membrane disintegration
Tubular basement membrane disintegration 		4 0 2 0.22 0 0
CUI: C4024941
Disease: Dilated third ventricle
Dilated third ventricle 		4 0 2 0.22 0 0
CUI: C1836393
Disease: Abnormality of ocular smooth pursuit
Abnormality of ocular smooth pursuit 		5 0 2 0.20 0 0
CUI: C1855677
Disease: Brainstem dysplasia
Brainstem dysplasia 		5 0 2 0.20 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 7 0.20 0 0
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		5 0 2 0.20 0 0
CUI: C4274118
Disease: Joubert syndrome with ocular defect
Joubert syndrome with ocular defect 		5 0 2 0.20 0 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		31 0 6 0.19 0 0
CUI: C1844925
Disease: Cervical spinal canal stenosis
Cervical spinal canal stenosis 		6 0 2 0.18 0 0
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		26 0 5 0.18 0 0
CUI: C1836320
Disease: Proximal femoral metaphyseal irregularity
Proximal femoral metaphyseal irregularity 		7 0 2 0.17 0 0