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: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11 		1 6 1 1.00 5 0.10
CUI: C4017203
Disease: BARDET-BIEDL SYNDROME 14, MODIFIER OF
BARDET-BIEDL SYNDROME 14, MODIFIER OF 		1 0 1 1.00 0 0
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder) 		2 17 1 0.50 4 6.6E-02
CUI: C4025708
Disease: Cerebellar malformation
Cerebellar malformation 		2 3 1 0.50 2 4.1E-02
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		3 39 1 0.33 12 0.16
CUI: C1865794
Disease: RHYNS syndrome
RHYNS syndrome 		3 0 1 0.33 0 0
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		4 38 1 0.25 21 0.32
CUI: C1968618
Disease: Tubular basement membrane disintegration
Tubular basement membrane disintegration 		4 0 1 0.25 0 0
CUI: C2673885
Disease: Renal hepatic pancreatic dysplasia Dandy Walker cyst
Renal hepatic pancreatic dysplasia Dandy Walker cyst 		4 0 1 0.25 0 0
CUI: C4020922
Disease: Enlarged fossa interpeduncularis
Enlarged fossa interpeduncularis 		4 0 1 0.25 0 0
CUI: C4021756
Disease: Thickened superior cerebellar peduncle
Thickened superior cerebellar peduncle 		4 0 1 0.25 0 0
CUI: C1408258
Disease: Kidney damage
Kidney damage 		5 6 1 0.20 2 3.8E-02
CUI: C4024644
Disease: Multiple small medullary renal cysts
Multiple small medullary renal cysts 		6 0 1 0.17 0 0
CUI: C0175692
Disease: Johanson-Blizzard syndrome
Johanson-Blizzard syndrome 		7 0 1 0.14 0 0
CUI: C3810214
Disease: Elongated superior cerebellar peduncle
Elongated superior cerebellar peduncle 		7 0 1 0.14 0 0
CUI: C1968619
Disease: Renal corticomedullary cysts
Renal corticomedullary cysts 		8 0 1 0.12 0 0
CUI: C1855284
Disease: Intrahepatic biliary atresia
Intrahepatic biliary atresia 		9 0 1 0.11 0 0
CUI: C3808046
Disease: Breathing dysregulation
Breathing dysregulation 		12 0 1 8.3E-02 0 0
CUI: C0031154
Disease: Peritonitis
Peritonitis 		15 2 1 6.7E-02 2 4.2E-02
CUI: C1858395
Disease: Tubular atrophy
Tubular atrophy 		17 0 1 5.9E-02 0 0
CUI: C4020869
Disease: Abnormality of abdomen morphology
Abnormality of abdomen morphology 		17 0 1 5.9E-02 0 0
CUI: C4521759
Disease: Tubular Atrophy Assessment
Tubular Atrophy Assessment 		17 0 1 5.9E-02 0 0
CUI: C0264172
Disease: Barrel chest
Barrel chest 		18 2 1 5.6E-02 2 4.2E-02
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		18 0 1 5.6E-02 0 0
CUI: C1859399
Disease: Radial bowing
Radial bowing 		19 0 1 5.3E-02 0 0