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: C0854076
Disease: Distal ileal obstruction syndrome
Distal ileal obstruction syndrome
disease Disease or Syndrome 4 2 0.010 None 1.000 1 2004 2004
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: C0878787
Disease: Growth failure
Growth failure
phenotype Disease or Syndrome 84 7 0.010 None 1.000 1 2020 2020
CUI: C0948379
Disease: Impaired insulin secretion
Impaired insulin secretion
disease Disease or Syndrome 88 14 0.010 None 1.000 1 2016 2016
CUI: C0948783
Disease: Bronchopulmonary infection
Bronchopulmonary infection
disease Disease or Syndrome 1 0.010 None 1.000 1 2003 2003
CUI: C1291314
Disease: Deficiency of monooxygenase
Deficiency of monooxygenase
disease Disease or Syndrome 17 15 0.010 None 1.000 1 2004 2004
CUI: C1301752
Disease: Respiratory morbidity
Respiratory morbidity
disease Disease or Syndrome 18 0.010 None 1.000 1 2010 2010
CUI: C1840264
Disease: IMMUNE SUPPRESSION
IMMUNE SUPPRESSION
phenotype Disease or Syndrome 222 3 0.010 None 1.000 1 2019 2019
CUI: C1857231
Disease: LACTASE PERSISTENCE
LACTASE PERSISTENCE
phenotype Disease or Syndrome 15 9 0.010 None 1.000 1 2011 2011
Pulmonary Mycobacterium avium complex infection
disease Disease or Syndrome 2 0.010 None 1.000 1 2007 2007
Liver Disease Associated with Cystic Fibrosis
disease Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
Intraductal papillary mucinous neoplasm
disease Neoplastic Process 50 2 0.010 None 1.000 1 2017 2017
Recurrent lower respiratory tract infection
phenotype Disease or Syndrome 23 0.110 None 1.000 1 2017 2017
CUI: C3825312
Disease: Cystic fibrosis in children
Cystic fibrosis in children
disease Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
Hyperkalemic Mineralocorticoid Resistance
disease Disease or Syndrome 22 3 0.010 None 1.000 1 2007 2007
CUI: C4524087
Disease: Bile acid diarrhea
Bile acid diarrhea
disease Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C4546414
Disease: Left renal agenesis
Left renal agenesis
disease Congenital Abnormality 1 0.010 None 1.000 1 1997 1997
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None 1.000 1 2004 2004
CUI: C0155820
Disease: Acute bronchitis and bronchiolitis
Acute bronchitis and bronchiolitis
disease Disease or Syndrome 1 2 0.100 None 0 2
CUI: C0241355
Disease: Small testicle
Small testicle
phenotype Finding 129 0.100 None 0
CUI: C0449439
Disease: Carrier status
Carrier status
phenotype Finding 3 6 0.300 strong 0
CUI: C0740266
Disease: Anal and rectal conditions
Anal and rectal conditions
disease Disease or Syndrome 1 2 0.100 None 0 2
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility
phenotype Finding 28 13 0.100 None 0
CUI: C1842406
Disease: Pancreatic calcification
Pancreatic calcification
phenotype Finding 7 0.100 None 0