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: C1332549
Disease: Bilateral Carcinoma
Bilateral Carcinoma 		phenotype Neoplasms Neoplastic Process 2 1 0.010 None 1.000 1 2004 2004
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: C0264222
Disease: Acute upper respiratory infection
Acute upper respiratory infection 		disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome 2 2 0.100 None 0 2
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 55 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
CUI: C2827436
Disease: Liver Disease Associated with Cystic Fibrosis
Liver Disease Associated with Cystic Fibrosis 		disease Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C0449439
Disease: Carrier status
Carrier status 		phenotype Finding 3 6 0.300 strong 0
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 3 38 0.600 strong 0 31
CUI: C0266270
Disease: Pancreas divisum
Pancreas divisum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 4 0.160 None 0.833 6 2007 2013
CUI: C2936423
Disease: Echogenic Bowel
Echogenic Bowel 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Congenital Abnormality 4 1 0.030 None 1.000 3 1 1999 2007
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: C1384582
Disease: Primary testicular failure
Primary testicular failure 		disease Endocrine System Diseases Disease or Syndrome 4 1 0.010 None 1.000 1 2000 2000
CUI: C4524087
Disease: Bile acid diarrhea
Bile acid diarrhea 		disease Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C1856646
Disease: Elevated sweat chloride
Elevated sweat chloride 		phenotype Finding 4 0.100 None 0
CUI: C4048750
Disease: Sphincter of Oddi Dyskinesia
Sphincter of Oddi Dyskinesia 		disease Digestive System Diseases Disease or Syndrome 4 0.100 None 0
CUI: C0747198
Disease: pancreatitis idiopathic
pancreatitis idiopathic 		disease Disease or Syndrome 5 4 0.100 None 1.000 17 1 1998 2016
CUI: C0009439
Disease: Choledochal Cyst, Type I
Choledochal Cyst, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality 5 0.300 None 1.000 1 2008 2008
CUI: C0239182
Disease: Watery diarrhoea
Watery diarrhoea 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 5 1 0.010 None 1.000 1 2018 2018
CUI: C0522070
Disease: Pancreatic symptom
Pancreatic symptom 		phenotype Sign or Symptom 5 0.010 None 1.000 1 2013 2013
CUI: C1257796
Disease: Choledochal Cyst, Type II
Choledochal Cyst, Type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality 5 0.300 None 1.000 1 2008 2008
CUI: C1257797
Disease: Choledochal Cyst, Type III
Choledochal Cyst, Type III 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality 5 0.300 None 1.000 1 2008 2008
CUI: C1257798
Disease: Choledochal Cyst, Type IV
Choledochal Cyst, Type IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality 5 0.300 None 1.000 1 2008 2008
CUI: C1257799
Disease: Choledochal Cyst, Type V
Choledochal Cyst, Type V 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality 5 0.300 None 1.000 1 2008 2008