CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 27; N. variants: 569
Source: CLINVAR ×
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: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 4 563 1.000 None 0.979 532 560 1989 2020
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		disease Male Urogenital Diseases Congenital Abnormality 2 169 1.000 strong 0.965 37 166 1992 2019
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		disease Digestive System Diseases Disease or Syndrome 4 67 0.730 strong 1.000 1 33 1999 2013
CUI: C2749757
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		disease Respiratory Tract Diseases Disease or Syndrome 1 36 0.600 strong 0 31
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		disease Respiratory Tract Diseases Disease or Syndrome 7 8 0.500 strong 0.952 0 2 1995 2019
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		disease Digestive System Diseases Disease or Syndrome 3 5 0.500 None 0.936 0 1 1998 2020
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 18 19 0.200 None 0.938 0 2 1999 2019
CUI: C0032285
Disease: Pneumonia
Pneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 7 10 0.200 None 0.933 0 2 2004 2019
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		disease Respiratory Tract Diseases Disease or Syndrome 6 33 0.200 None 1.000 0 2 2001 2019
CUI: C0030286
Disease: Pancreatic Diseases
Pancreatic Diseases 		group Digestive System Diseases Disease or Syndrome 1 2 0.170 None 1.000 0 2 1997 2019
CUI: C4551632
Disease: Recurrent pancreatitis
Recurrent pancreatitis 		disease Digestive System Diseases Disease or Syndrome 1 1 0.160 None 1.000 0 1 2005 2019
CUI: C1865433
Disease: VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		phenotype Finding 1 4 0.100 None 1.000 38 4 1995 2017
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: C4016792
Disease: PANCREATITIS, IDIOPATHIC, SUSCEPTIBILITY TO
PANCREATITIS, IDIOPATHIC, SUSCEPTIBILITY TO 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4016791
Disease: SWEAT CHLORIDE ELEVATION WITHOUT CYSTIC FIBROSIS
SWEAT CHLORIDE ELEVATION WITHOUT CYSTIC FIBROSIS 		disease Finding 1 1 0.100 None 0 1
CUI: C3714745
Disease: Malabsorption
Malabsorption 		phenotype Digestive System Diseases Finding 1 3 0.100 None 0 2
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 21 30 0.100 None 0 1
CUI: C1865553
Disease: HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO
HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO 		phenotype Finding 1 1 0.100 None 0 1
CUI: C0155820
Disease: Acute bronchitis and bronchiolitis
Acute bronchitis and bronchiolitis 		disease Disease or Syndrome 1 2 0.100 None 0 2
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		disease Respiratory Tract Diseases Disease or Syndrome 4 21 0.100 None 0 2
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: C0546884
Disease: Hypovolemia
Hypovolemia 		phenotype Pathological Conditions, Signs and Symptoms Finding 1 3 0.100 None 0 2
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C0264222
Disease: Acute upper respiratory infection
Acute upper respiratory infection 		disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome 1 2 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 2 4 0.100 None 0 2