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: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 166 122 0.010 None 1.000 1 3 2012 2012
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		disease Digestive System Diseases Disease or Syndrome 435 51 0.100 None 1.000 11 2 2002 2019
CUI: C0037090
Disease: Signs and Symptoms, Respiratory
Signs and Symptoms, Respiratory 		group Pathological Conditions, Signs and Symptoms Sign or Symptom 73 10 0.070 None 1.000 7 2 2010 2019
CUI: C4551632
Disease: Recurrent pancreatitis
Recurrent pancreatitis 		disease Digestive System Diseases Disease or Syndrome 14 13 0.160 None 1.000 6 2 2005 2019
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.040 None 0.750 4 2 2001 2018
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.040 None 0.750 4 2 2001 2018
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 488 90 0.040 None 1.000 4 2 2000 2019
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.040 None 0.750 4 2 2001 2018
CUI: C0339985
Disease: Idiopathic bronchiectasis
Idiopathic bronchiectasis 		disease Respiratory Tract Diseases Disease or Syndrome 21 6 0.320 None 1.000 4 2 2006 2015
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		phenotype Organism Attribute 565 1138 0.100 None 1.000 3 2 2018 2019
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		disease Endocrine System Diseases Disease or Syndrome 115 39 0.020 None 1.000 2 2 2008 2011
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 468 81 0.110 None 1.000 2 2 2016 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.110 None 1.000 2 2 2002 2018
CUI: C0853277
Disease: Pseudo-Bartter syndrome
Pseudo-Bartter syndrome 		disease Disease or Syndrome 2 2 0.010 None 1.000 1 2 2019 2019
CUI: C0002063
Disease: Alkalosis
Alkalosis 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 25 2 0.010 None 1.000 1 2 2004 2004
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 596 81 0.010 None 1.000 1 2 2017 2017
CUI: C0264222
Disease: Acute upper respiratory infection
Acute upper respiratory infection 		disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome 2 2 0.100 None 0 2
CUI: C0155820
Disease: Acute bronchitis and bronchiolitis
Acute bronchitis and bronchiolitis 		disease Disease or Syndrome 1 2 0.100 None 0 2
CUI: C0740266
Disease: Anal and rectal conditions
Anal and rectal conditions 		disease Disease or Syndrome 1 2 0.100 None 0 2
CUI: C3714745
Disease: Malabsorption
Malabsorption 		phenotype Digestive System Diseases Finding 175 3 0.100 None 0 2
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome 		disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome 55 8 0.100 None 0 2
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		disease Respiratory Tract Diseases Disease or Syndrome 803 63 0.100 None 0 2
CUI: C0546884
Disease: Hypovolemia
Hypovolemia 		phenotype Pathological Conditions, Signs and Symptoms Finding 37 3 0.100 None 0 2
CUI: C4017631
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF 		phenotype Finding 1 2 0.100 None 0 2
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 18 1 1992 2019