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: C1866053
Disease: Deafness, Congenital Heart Defects, and Posterior Embryotoxon
Deafness, Congenital Heart Defects, and Posterior Embryotoxon 		1 0 1 1.00 0 0
CUI: C0344975
Disease: Pulmonary Atresia with Intact Ventricular Septum
Pulmonary Atresia with Intact Ventricular Septum 		2 0 1 0.50 0 0
CUI: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2 		2 0 1 0.50 0 0
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		2 0 1 0.50 0 0
CUI: C2930797
Disease: Hepatic ductular hypoplasia
Hepatic ductular hypoplasia 		2 0 1 0.50 0 0
CUI: C3805239
Disease: Mid aortic syndrome
Mid aortic syndrome 		2 0 1 0.50 0 0
CUI: C4021591
Disease: Reduced number of intrahepatic bile ducts
Reduced number of intrahepatic bile ducts 		2 0 1 0.50 0 0
CUI: C0266242
Disease: Congenital hypoplasia of bile duct
Congenital hypoplasia of bile duct 		3 0 1 0.33 0 0
CUI: C0596377
Disease: connective tissue hyperplasia
connective tissue hyperplasia 		3 0 1 0.33 0 0
CUI: C3277688
Disease: Progressive forgetfulness
Progressive forgetfulness 		3 0 1 0.33 0 0
CUI: C2146481
Disease: Bilateral vocal cord paralysis
Bilateral vocal cord paralysis 		4 0 1 0.25 0 0
CUI: C4025347
Disease: Weakness of muscles of respiration
Weakness of muscles of respiration 		4 0 1 0.25 0 0
CUI: C0457533
Disease: Desmoplastic ameloblastoma
Desmoplastic ameloblastoma 		5 0 1 0.20 0 0
CUI: C1266071
Disease: Intraductal papillary-mucinous adenoma
Intraductal papillary-mucinous adenoma 		5 0 1 0.20 0 0
CUI: C3150902
Disease: C1q DEFICIENCY
C1q DEFICIENCY 		5 0 1 0.20 0 0
CUI: C3666017
Disease: Cholangiopathy
Cholangiopathy 		6 0 1 0.17 0 0
CUI: C4024644
Disease: Multiple small medullary renal cysts
Multiple small medullary renal cysts 		6 0 1 0.17 0 0
CUI: C0155120
Disease: Corneal Dystrophy, Band-Shaped
Corneal Dystrophy, Band-Shaped 		7 0 1 0.14 0 0
CUI: C0266548
Disease: Axenfeld anomaly (disorder)
Axenfeld anomaly (disorder) 		7 0 1 0.14 0 0
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		7 0 1 0.14 0 0
CUI: C0332886
Disease: Coarctation
Coarctation 		8 0 1 0.12 0 0
CUI: C0917715
Disease: Hajdu-Cheney Syndrome
Hajdu-Cheney Syndrome 		8 0 1 0.12 0 0
CUI: C1855284
Disease: Intrahepatic biliary atresia
Intrahepatic biliary atresia 		9 0 1 0.11 0 0
CUI: C4025573
Disease: Increased muscle fatiguability
Increased muscle fatiguability 		9 0 1 0.11 0 0
CUI: C0282631
Disease: Facies
Facies 		10 0 1 1.0E-01 0 0