CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 365; N. variants: 133
Source: BEFREE ×
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: C4546077
Disease: Atypical cystic fibrosis
Atypical cystic fibrosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 1 5 0.050 None 1.000 5 5 2001 2013
CUI: C1527396
Disease: Fibrocystic Disease of Pancreas
Fibrocystic Disease of Pancreas 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 1 0.330 None 1.000 3 1991 2018
CUI: C0340037
Disease: Young Syndrome
Young Syndrome 		disease Infections; Male Urogenital Diseases; Respiratory Tract Diseases Disease or Syndrome 1 0.020 None 0.500 2 1996 1998
CUI: C0332882
Disease: congenital obstruction
congenital obstruction 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1 0.010 None 1.000 1 2018 2018
CUI: C0398349
Disease: Distal intestinal obstruction syndrome
Distal intestinal obstruction syndrome 		disease Disease or Syndrome 1 0.010 None 1.000 1 2004 2004
CUI: C0403819
Disease: Acquired obstructive azoospermia
Acquired obstructive azoospermia 		disease Male Urogenital Diseases Disease or Syndrome 1 0.010 None 1.000 1 2013 2013
CUI: C0860006
Disease: Hypotonic dehydration
Hypotonic dehydration 		disease Disease or Syndrome 1 0.010 None 1.000 1 1995 1995
CUI: C0877664
Disease: Gastrointestinal cramps
Gastrointestinal cramps 		phenotype Sign or Symptom 1 0.010 None 1.000 1 2009 2009
CUI: C0948783
Disease: Bronchopulmonary infection
Bronchopulmonary infection 		disease Disease or Syndrome 1 0.010 None 1.000 1 2003 2003
CUI: C1332549
Disease: Bilateral Carcinoma
Bilateral Carcinoma 		phenotype Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2004 2004
CUI: C4546076
Disease: Classical cystic fibrosis
Classical cystic fibrosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 1 3 0.010 None 1.000 1 3 2010 2010
CUI: C4546414
Disease: Left renal agenesis
Left renal agenesis 		disease Congenital Abnormality 1 0.010 None 1.000 1 1997 1997
CUI: C0332910
Disease: bilateral agenesis
bilateral agenesis 		disease Congenital Abnormality 2 0.020 None 1.000 2 2006 2011
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: C0151476
Disease: Hypochloremic alkalosis
Hypochloremic alkalosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 2 1 0.010 None 1.000 1 1 2018 2018
CUI: C0238074
Disease: Chronic pulmonary heart disease
Chronic pulmonary heart disease 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 2 1 0.010 None 1.000 1 1 2014 2014
CUI: C0268532
Disease: Deficiency of prolidase
Deficiency of prolidase 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 2 0.010 None 1.000 1 2007 2007
CUI: C0332909
Disease: Congenital unilateral absence
Congenital unilateral absence 		disease Congenital Abnormality 2 0.010 None 1.000 1 2019 2019
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: C2733595
Disease: Pulmonary Mycobacterium avium complex infection
Pulmonary Mycobacterium avium complex infection 		disease Disease or Syndrome 2 0.010 None 1.000 1 2007 2007
CUI: C3825312
Disease: Cystic fibrosis in children
Cystic fibrosis in children 		disease Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C2936423
Disease: Echogenic Bowel
Echogenic Bowel 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Congenital Abnormality 3 1 0.030 None 1.000 3 1 1999 2007
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 1 0.010 None 1.000 1 1993 1993
CUI: C0271453
Disease: Serous otitis media
Serous otitis media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2004 2004
CUI: C0546982
Disease: Cystic fibrosis with meconium ileus
Cystic fibrosis with meconium ileus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 3 0.010 None 1.000 1 2013 2013