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: C3806216
Disease: Neonatal breathing dysregulation
Neonatal breathing dysregulation 		5 0 3 0.43 0 0
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		4 0 2 0.29 0 0
CUI: C4020922
Disease: Enlarged fossa interpeduncularis
Enlarged fossa interpeduncularis 		4 0 2 0.29 0 0
CUI: C4025719
Disease: Dysgenesis of the cerebellar vermis
Dysgenesis of the cerebellar vermis 		4 0 2 0.29 0 0
CUI: C1836393
Disease: Abnormality of ocular smooth pursuit
Abnormality of ocular smooth pursuit 		5 0 2 0.25 0 0
CUI: C1832471
Disease: Renal dysplasia diffuse cystic
Renal dysplasia diffuse cystic 		1 0 1 0.20 0 0
CUI: C1842577
Disease: JOUBERT SYNDROME 2
JOUBERT SYNDROME 2 		1 0 1 0.20 0 0
CUI: C1864148
Disease: MECKEL SYNDROME, TYPE 2
MECKEL SYNDROME, TYPE 2 		1 0 1 0.20 0 0
CUI: C1969052
Disease: MECKEL SYNDROME, TYPE 5
MECKEL SYNDROME, TYPE 5 		1 0 1 0.20 0 0
CUI: C1969053
Disease: JOUBERT SYNDROME 7
JOUBERT SYNDROME 7 		1 0 1 0.20 0 0
CUI: C3810214
Disease: Elongated superior cerebellar peduncle
Elongated superior cerebellar peduncle 		7 0 2 0.20 0 0
CUI: C4310793
Disease: HEART AND BRAIN MALFORMATION SYNDROME
HEART AND BRAIN MALFORMATION SYNDROME 		1 2 1 0.20 2 1.00
CUI: C1855284
Disease: Intrahepatic biliary atresia
Intrahepatic biliary atresia 		9 0 2 0.17 0 0
CUI: C1857802
Disease: MORM syndrome
MORM syndrome 		2 0 1 0.17 0 0
CUI: C1859292
Disease: Triangular-shaped open mouth
Triangular-shaped open mouth 		2 0 1 0.17 0 0
CUI: C4021862
Disease: Absent epiphyses
Absent epiphyses 		2 0 1 0.17 0 0
CUI: C4025010
Disease: Coat hanger sign of ribs
Coat hanger sign of ribs 		2 0 1 0.17 0 0
CUI: C1846790
Disease: JOUBERT SYNDROME 4 (disorder)
JOUBERT SYNDROME 4 (disorder) 		3 0 1 0.14 0 0
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		11 0 2 0.14 0 0
CUI: C0030846
Disease: Penile Diseases
Penile Diseases 		4 0 1 0.12 0 0
CUI: C4021756
Disease: Thickened superior cerebellar peduncle
Thickened superior cerebellar peduncle 		4 0 1 0.12 0 0
CUI: C0033785
Disease: Pseudarthrosis
Pseudarthrosis 		5 0 1 0.11 0 0
CUI: C0345394
Disease: Hypoplasia of spine
Hypoplasia of spine 		5 0 1 0.11 0 0
CUI: C4274118
Disease: Joubert syndrome with ocular defect
Joubert syndrome with ocular defect 		5 0 1 0.11 0 0
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement 		17 0 2 1.0E-01 0 0