JAG1, jagged canonical Notch ligand 1, 182

N. diseases: 420; N. variants: 63
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1866053
Disease: Deafness, Congenital Heart Defects, and Posterior Embryotoxon
Deafness, Congenital Heart Defects, and Posterior Embryotoxon 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome 1 2 0.600 moderate 1.000 2 2 2002 2010
CUI: C1861627
Disease: Butterfly vertebral arch
Butterfly vertebral arch 		phenotype Finding 1 0.100 None 0
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 2 48 0.710 None 1.000 27 48 1997 2016
CUI: C2930797
Disease: Hepatic ductular hypoplasia
Hepatic ductular hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.310 None 1.000 4 1997 2011
CUI: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 2 3 0.300 None 1.000 3 1997 2011
CUI: C0344975
Disease: Pulmonary Atresia with Intact Ventricular Septum
Pulmonary Atresia with Intact Ventricular Septum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 2 1 0.010 None 1.000 1 2010 2010
CUI: C3805239
Disease: Mid aortic syndrome
Mid aortic syndrome 		disease Disease or Syndrome 2 3 0.100 None 1.000 1 1 2018 2018
CUI: C4021591
Disease: Reduced number of intrahepatic bile ducts
Reduced number of intrahepatic bile ducts 		phenotype Finding 2 1 0.100 None 0
CUI: C0266242
Disease: Congenital hypoplasia of bile duct
Congenital hypoplasia of bile duct 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 3 0.010 None 1.000 1 2002 2002
CUI: C0596377
Disease: connective tissue hyperplasia
connective tissue hyperplasia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C3277688
Disease: Progressive forgetfulness
Progressive forgetfulness 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding 3 1 0.100 None 0 1
CUI: C2146481
Disease: Bilateral vocal cord paralysis
Bilateral vocal cord paralysis 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 2 0.100 None 0 1
CUI: C4025347
Disease: Weakness of muscles of respiration
Weakness of muscles of respiration 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 4 1 0.100 None 0 1
CUI: C0457533
Disease: Desmoplastic ameloblastoma
Desmoplastic ameloblastoma 		disease Neoplasms Neoplastic Process 5 0.010 None 1.000 1 2010 2010
CUI: C1266071
Disease: Intraductal papillary-mucinous adenoma
Intraductal papillary-mucinous adenoma 		disease Neoplasms Neoplastic Process 5 0.010 None 1.000 1 2015 2015
CUI: C3150902
Disease: C1q DEFICIENCY
C1q DEFICIENCY 		disease Disease or Syndrome 5 8 0.010 None 1.000 1 2012 2012
CUI: C3666017
Disease: Cholangiopathy
Cholangiopathy 		disease Disease or Syndrome 6 0.010 None 1.000 1 2016 2016
CUI: C4024644
Disease: Multiple small medullary renal cysts
Multiple small medullary renal cysts 		disease Disease or Syndrome 6 1 0.100 None 0
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		disease Musculoskeletal Diseases Disease or Syndrome 7 16 0.010 None 1.000 1 2012 2012
CUI: C0155120
Disease: Corneal Dystrophy, Band-Shaped
Corneal Dystrophy, Band-Shaped 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 7 3 0.100 None 0
CUI: C0266548
Disease: Axenfeld anomaly (disorder)
Axenfeld anomaly (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 7 3 0.100 None 0
CUI: C0332886
Disease: Coarctation
Coarctation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 8 0.010 None 1.000 1 2002 2002
CUI: C0917715
Disease: Hajdu-Cheney Syndrome
Hajdu-Cheney Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 8 13 0.010 None 1.000 1 2012 2012
CUI: C1855284
Disease: Intrahepatic biliary atresia
Intrahepatic biliary atresia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 9 0.020 None 1.000 2 2004 2016
CUI: C4025573
Disease: Increased muscle fatiguability
Increased muscle fatiguability 		phenotype Finding 9 3 0.100 None 0 1