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: C4476900
Disease: Abnormal pancreatic duct morphology
Abnormal pancreatic duct morphology 		phenotype Anatomical Abnormality 5 0.100 None 0
CUI: C1608955
Disease: Mycobacterium abscessus Infection
Mycobacterium abscessus Infection 		disease Infections Disease or Syndrome 6 0.010 None 1.000 1 2019 2019
CUI: C3686778
Disease: Biliary hyperplasia
Biliary hyperplasia 		disease Disease or Syndrome 6 0.100 None 0
CUI: C4023591
Disease: Abnormality of circulating enzyme level
Abnormality of circulating enzyme level 		phenotype Finding 6 1 0.100 None 0
CUI: C4080064
Disease: Autosomal Dominant Hereditary Pancreatitis
Autosomal Dominant Hereditary Pancreatitis 		disease Digestive System Diseases Disease or Syndrome 6 6 0.300 None 0
CUI: C0268181
Disease: Lactose Intolerance, Adult Type
Lactose Intolerance, Adult Type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 7 0.010 None 1.000 1 2011 2011
CUI: C4554215
Disease: Duchenne or Becker muscular dystrophy
Duchenne or Becker muscular dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 1990 1990
CUI: C1842406
Disease: Pancreatic calcification
Pancreatic calcification 		phenotype Finding 7 0.100 None 0
CUI: C4023112
Disease: Acute infectious pneumonia
Acute infectious pneumonia 		disease Disease or Syndrome 7 0.100 None 0
CUI: C4025204
Disease: Recurrent Haemophilus influenzae infections
Recurrent Haemophilus influenzae infections 		phenotype Finding 7 0.100 None 0
CUI: C2242728
Disease: Cystic fibrosis related diabetes
Cystic fibrosis related diabetes 		disease Disease or Syndrome 8 0.060 None 1.000 6 2015 2020
CUI: C0030469
Disease: Paranasal Sinus Disorder
Paranasal Sinus Disorder 		group Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 8 1 0.040 None 1.000 4 1 2014 2019
CUI: C0342488
Disease: Mineralocorticoid Excess Syndrome, Apparent
Mineralocorticoid Excess Syndrome, Apparent 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 8 1 0.010 None 1.000 1 2019 2019
CUI: C3160897
Disease: Opioid-Induced Constipation
Opioid-Induced Constipation 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 8 0.010 None 1.000 1 2017 2017
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 9 0.330 None 1.000 18 1991 2018
CUI: C0036130
Disease: Salpingitis
Salpingitis 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 9 0.200 None 1.000 1 2008 2008
CUI: C0346648
Disease: Malignant tumor of exocrine pancreas
Malignant tumor of exocrine pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 9 0.010 None 1.000 1 2001 2001
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens 		disease Congenital Abnormality 10 0.200 None 1.000 24 1995 2019
CUI: C4302455
Disease: Pancreatitis due to pancreatic duct obstruction
Pancreatitis due to pancreatic duct obstruction 		disease Digestive System Diseases Disease or Syndrome 10 0.010 None 1.000 1 2008 2008
CUI: C2169795
Disease: Recurrent bronchopulmonary infections
Recurrent bronchopulmonary infections 		phenotype Finding 10 0.100 None 0
CUI: C0265780
Disease: Congenital absence of lung
Congenital absence of lung 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 11 0.010 None 1.000 1 2015 2015
CUI: C0030299
Disease: Pancreatic Pseudocyst
Pancreatic Pseudocyst 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 11 0.100 None 0
CUI: C0010474
Disease: Curling Ulcer
Curling Ulcer 		disease Digestive System Diseases Disease or Syndrome 12 0.200 None 1.000 1 2005 2005
CUI: C0400979
Disease: Obstruction of biliary tree
Obstruction of biliary tree 		disease Digestive System Diseases Disease or Syndrome 12 0.100 None 0
CUI: C0810032
Disease: Pancreatic disorders (not diabetes)
Pancreatic disorders (not diabetes) 		group Digestive System Diseases Disease or Syndrome 13 6 0.030 None 1.000 3 2002 2018