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: C1855284
Disease: Intrahepatic biliary atresia
Intrahepatic biliary atresia 		9 0 4 0.44 0 0
CUI: C4024644
Disease: Multiple small medullary renal cysts
Multiple small medullary renal cysts 		6 0 3 0.43 0 0
CUI: C0175692
Disease: Johanson-Blizzard syndrome
Johanson-Blizzard syndrome 		7 0 3 0.38 0 0
CUI: C4020922
Disease: Enlarged fossa interpeduncularis
Enlarged fossa interpeduncularis 		4 0 2 0.33 0 0
CUI: C1855677
Disease: Brainstem dysplasia
Brainstem dysplasia 		5 0 2 0.29 0 0
CUI: C3806216
Disease: Neonatal breathing dysregulation
Neonatal breathing dysregulation 		5 0 2 0.29 0 0
CUI: C1832471
Disease: Renal dysplasia diffuse cystic
Renal dysplasia diffuse cystic 		1 0 1 0.25 0 0
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		1 48 1 0.25 21 0.32
CUI: C1969052
Disease: MECKEL SYNDROME, TYPE 5
MECKEL SYNDROME, TYPE 5 		1 3 1 0.25 2 5.1E-02
CUI: C1969053
Disease: JOUBERT SYNDROME 7
JOUBERT SYNDROME 7 		1 23 1 0.25 4 7.0E-02
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		1 50 1 0.25 7 8.6E-02
CUI: C2676790
Disease: MECKEL SYNDROME, TYPE 6 (disorder)
MECKEL SYNDROME, TYPE 6 (disorder) 		1 24 1 0.25 5 8.8E-02
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11 		1 6 1 0.25 4 1.0E-01
CUI: C4017203
Disease: BARDET-BIEDL SYNDROME 14, MODIFIER OF
BARDET-BIEDL SYNDROME 14, MODIFIER OF 		1 0 1 0.25 0 0
CUI: C3810214
Disease: Elongated superior cerebellar peduncle
Elongated superior cerebellar peduncle 		7 0 2 0.22 0 0
CUI: C1857802
Disease: MORM syndrome
MORM syndrome 		2 0 1 0.20 0 0
CUI: C1859292
Disease: Triangular-shaped open mouth
Triangular-shaped open mouth 		2 0 1 0.20 0 0
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder) 		2 17 1 0.20 4 7.8E-02
CUI: C3280898
Disease: JOUBERT SYNDROME 9/15, DIGENIC
JOUBERT SYNDROME 9/15, DIGENIC 		2 2 1 0.20 1 2.6E-02
CUI: C4021862
Disease: Absent epiphyses
Absent epiphyses 		2 0 1 0.20 0 0
CUI: C4025010
Disease: Coat hanger sign of ribs
Coat hanger sign of ribs 		2 0 1 0.20 0 0
CUI: C4025708
Disease: Cerebellar malformation
Cerebellar malformation 		2 3 1 0.20 2 5.1E-02
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		3 39 1 0.17 8 0.12
CUI: C1846790
Disease: JOUBERT SYNDROME 4 (disorder)
JOUBERT SYNDROME 4 (disorder) 		3 0 1 0.17 0 0
CUI: C1865794
Disease: RHYNS syndrome
RHYNS syndrome 		3 0 1 0.17 0 0