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: 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: 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: 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: 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: 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: 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: C1865553
Disease: HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO
HYPERTRYPSINEMIA, NEONATAL, 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: C4016792
Disease: PANCREATITIS, IDIOPATHIC, SUSCEPTIBILITY TO
PANCREATITIS, IDIOPATHIC, SUSCEPTIBILITY TO 		phenotype Finding 1 1 0.100 None 0 1
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: 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 12 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