CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
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: C0034642
Disease: Rales
Rales 		phenotype Pathological Conditions, Signs and Symptoms Finding 23 0.100 None 0
CUI: C0449439
Disease: Carrier status
Carrier status 		phenotype Finding 3 6 0.300 strong 0
CUI: C1856646
Disease: Elevated sweat chloride
Elevated sweat chloride 		phenotype Finding 4 0.100 None 0
CUI: C0034066
Disease: Pulmonary embolism with pulmonary infarction
Pulmonary embolism with pulmonary infarction 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C0003962
Disease: Ascites
Ascites 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 198 7 0.100 None 0
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 259 16 0.100 None 0
CUI: C0003123
Disease: Anorexia
Anorexia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 242 10 0.100 None 0
CUI: C0032227
Disease: Pleural effusion disorder
Pleural effusion disorder 		group Respiratory Tract Diseases Disease or Syndrome 227 14 0.100 None 0
CUI: C1865553
Disease: HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO
HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO 		phenotype Finding 1 1 0.100 None 0 1
CUI: C0241355
Disease: Small testicle
Small testicle 		phenotype Finding 129 0.100 None 0
CUI: C0008031
Disease: Chest Pain
Chest Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 154 7 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C2169795
Disease: Recurrent bronchopulmonary infections
Recurrent bronchopulmonary infections 		phenotype Finding 10 0.100 None 0
CUI: C4023112
Disease: Acute infectious pneumonia
Acute infectious pneumonia 		disease Disease or Syndrome 7 0.100 None 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.300 None 0
CUI: C0546884
Disease: Hypovolemia
Hypovolemia 		phenotype Pathological Conditions, Signs and Symptoms Finding 37 3 0.100 None 0 2
CUI: C0400979
Disease: Obstruction of biliary tree
Obstruction of biliary tree 		disease Digestive System Diseases Disease or Syndrome 12 0.100 None 0
CUI: C1862265
Disease: Increased circulating gonadotropin level
Increased circulating gonadotropin level 		phenotype Nervous System Diseases; Endocrine System Diseases Finding 34 0.100 None 0
CUI: C4476900
Disease: Abnormal pancreatic duct morphology
Abnormal pancreatic duct morphology 		phenotype Anatomical Abnormality 5 0.100 None 0
CUI: C0740266
Disease: Anal and rectal conditions
Anal and rectal conditions 		disease Disease or Syndrome 1 2 0.100 None 0 2
CUI: C0034888
Disease: Rectal Prolapse
Rectal Prolapse 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 46 1 0.100 None 0
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 852 704 1.000 None 0.979 2327 632 1989 2020
CUI: C4554215
Disease: Duchenne or Becker muscular dystrophy
Duchenne or Becker muscular dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 1990 1990
CUI: C0024115
Disease: Lung diseases
Lung diseases 		group Respiratory Tract Diseases Disease or Syndrome 700 50 0.100 None 0.946 112 14 1991 2020
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency 		disease Digestive System Diseases Disease or Syndrome 82 26 0.200 None 1.000 25 16 1991 2019