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: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease Disease or Syndrome 59 442 0.300 limited 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.100 None 0
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: C4025573
Disease: Increased muscle fatiguability
Increased muscle fatiguability 		phenotype Finding 9 3 0.100 None 0 1
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease Mental or Behavioral Dysfunction 165 13 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		phenotype Finding 74 5 0.100 None 0 1
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.100 None 0
CUI: C4048273
Disease: Chorioretinal atrophy
Chorioretinal atrophy 		disease Eye Diseases Disease or Syndrome 24 4 0.100 None 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		phenotype Finding 85 3 0.100 None 0 1
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		phenotype Pathologic Function 32 37 0.100 None 0 1
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: C4072904
Disease: Secondary Caesarian section
Secondary Caesarian section 		phenotype Finding 13 13 0.100 None 0 1
CUI: C0038379
Disease: Strabismus
Strabismus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.100 None 0
CUI: C0575802
Disease: Small hand
Small hand 		phenotype Finding 108 31 0.100 None 0 1
CUI: C3152182
Disease: Anterior chamber anomalies
Anterior chamber anomalies 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 18 1 0.100 None 0
CUI: C0578038
Disease: Thin lips
Thin lips 		phenotype Finding 99 8 0.100 None 0
CUI: C1836038
Disease: Poor head control
Poor head control 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 162 13 0.100 None 0 1
CUI: C0012569
Disease: Diplopia
Diplopia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 75 5 0.100 None 0 1
CUI: C1835884
Disease: Triangular face
Triangular face 		phenotype Finding 111 16 0.100 None 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 426 87 0.100 None 0 1
CUI: C4021591
Disease: Reduced number of intrahepatic bile ducts
Reduced number of intrahepatic bile ducts 		phenotype Finding 2 1 0.100 None 0
CUI: C0345030
Disease: Peripheral pulmonary artery stenosis
Peripheral pulmonary artery stenosis 		disease Cardiovascular Diseases Disease or Syndrome 23 3 0.100 None 0 2
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 590 77 0.100 None 0
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1037 21 0.100 None 0