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.
Respiratory Distress Syndrome, Adult
disease Respiratory Tract Diseases Disease or Syndrome 434 60 0.030 None 1.000 3 2016 2018
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases
group Respiratory Tract Diseases Disease or Syndrome 198 109 0.020 None 1.000 2 1995 2017
CUI: C0340238
Disease: Infectious disorder of bronchus
Infectious disorder of bronchus
group Respiratory Tract Diseases Disease or Syndrome 2 0.020 None 1.000 2 2004 2006
CUI: C1279945
Disease: Acute interstitial pneumonia
Acute interstitial pneumonia
disease Respiratory Tract Diseases Disease or Syndrome 88 8 0.020 None 1.000 2 2011 2015
CUI: C0001883
Disease: Airway Obstruction
Airway Obstruction
group Respiratory Tract Diseases Disease or Syndrome 110 5 0.010 None 1.000 1 2015 2015
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 924 25 0.110 None 1.000 1 2012 2012
CUI: C0085129
Disease: Bronchial Hyperreactivity
Bronchial Hyperreactivity
disease Respiratory Tract Diseases Disease or Syndrome 112 18 0.010 None 1.000 1 2006 2006
CUI: C0340100
Disease: High altitude pulmonary edema
High altitude pulmonary edema
disease Respiratory Tract Diseases Disease or Syndrome 56 45 0.010 None 1.000 1 2003 2003
Idiopathic pulmonary arterial hypertension
disease Respiratory Tract Diseases Disease or Syndrome 776 24 0.010 None 1.000 1 2017 2017
CUI: C0032227
Disease: Pleural effusion disorder
Pleural effusion disorder
group Respiratory Tract Diseases Disease or Syndrome 227 14 0.100 None 0
CUI: C0235063
Disease: Respiratory Depression
Respiratory Depression
phenotype Respiratory Tract Diseases Pathologic Function 24 5 0.100 None 0
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 803 63 0.100 None 0 2
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
disease Respiratory Tract Diseases Disease or Syndrome 3 38 0.600 strong 0 31
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 484 34 0.060 None 1.000 6 1 1996 2014
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: C0699949
Disease: airway disease
airway disease
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 198 1 0.070 None 1.000 7 1999 2020
CUI: C0010200
Disease: Coughing
Coughing
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 235 16 0.010 None 1.000 1 2011 2011
CUI: C0748355
Disease: Acute respiratory distress
Acute respiratory distress
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 147 6 0.010 None 1.000 1 2016 2016
CUI: C0013404
Disease: Dyspnea
Dyspnea
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 222 26 0.100 None 0
CUI: C0019079
Disease: Hemoptysis
Hemoptysis
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 67 1 0.100 None 0 1
CUI: C0239134
Disease: Productive Cough
Productive Cough
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 17 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: 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: C0011175
Disease: Dehydration
Dehydration
phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 295 6 0.100 None 1.000 10 1999 2019
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.010 None 1.000 1 2020 2020