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: C0008677
Disease: Bronchitis, Chronic
Bronchitis, Chronic 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 59 1 0.170 None 1.000 7 1995 2019
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		group Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 75 0.170 None 1.000 7 2008 2017
CUI: C0030286
Disease: Pancreatic Diseases
Pancreatic Diseases 		group Digestive System Diseases Disease or Syndrome 93 9 0.170 None 1.000 6 1 1997 2019
CUI: C4551632
Disease: Recurrent pancreatitis
Recurrent pancreatitis 		disease Digestive System Diseases Disease or Syndrome 10 12 0.160 None 1.000 6 1 2005 2019
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: C0746102
Disease: Chronic lung disease
Chronic lung disease 		disease Respiratory Tract Diseases Disease or Syndrome 112 5 0.140 None 1.000 4 2005 2012
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia 		disease Male Urogenital Diseases Disease or Syndrome 110 42 0.120 None 1.000 2 1 2014 2017
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 157 10 0.120 None 1.000 2 3 2012 2020
CUI: C0009080
Disease: Clubbed Fingers
Clubbed Fingers 		disease Musculoskeletal Diseases Anatomical Abnormality 6 1 0.110 None 1.000 1 2009 2009
CUI: C0149651
Disease: Clubbing
Clubbing 		phenotype Sign or Symptom 9 1 0.110 None 1.000 1 2009 2009
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 266 155 0.110 None 1.000 1 2008 2008
CUI: C0023418
Disease: leukemia
leukemia 		disease Neoplasms Neoplastic Process 1984 138 0.110 None 1.000 1 2017 2017
CUI: C0034072
Disease: Cor pulmonale
Cor pulmonale 		disease Cardiovascular Diseases Disease or Syndrome 20 2 0.110 None 1.000 1 1 2014 2014
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1497 388 0.110 None 1.000 1 2013 2013
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		disease Respiratory Tract Diseases Disease or Syndrome 856 25 0.110 None 1.000 1 2012 2012
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1582 547 0.110 None 1.000 1 2019 2019
CUI: C3163798
Disease: Recurrent lower respiratory tract infection
Recurrent lower respiratory tract infection 		phenotype Disease or Syndrome 3 0.110 None 1.000 1 2017 2017
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 82 7 0.110 None 1.000 1 2019 2019
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 457 52 0.110 None 1.000 1 1 2016 2018
CUI: C0006625
Disease: Cachexia
Cachexia 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 189 9 0.110 None 1.000 1 2009 2009
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1504 1022 0.110 None 1.000 1 2002 2018
CUI: C0024115
Disease: Lung diseases
Lung diseases 		group Respiratory Tract Diseases Disease or Syndrome 630 50 0.100 None 0.946 112 14 1991 2020
CUI: C0876973
Disease: Infectious Lung Disorder
Infectious Lung Disorder 		group Infections; Respiratory Tract Diseases Disease or Syndrome 185 1 0.100 None 1.000 23 1997 2019
CUI: C0030293
Disease: Pancreatic Insufficiency
Pancreatic Insufficiency 		disease Digestive System Diseases Disease or Syndrome 21 23 0.100 None 1.000 21 18 1991 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10153 1571 0.100 None 1.000 18 1 1992 2019