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: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		group Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 239 0.170 None 1.000 7 2008 2017
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.060 None 1.000 6 1991 2014
CUI: C0035243
Disease: Respiratory Tract Infections
Respiratory Tract Infections 		group Infections; Respiratory Tract Diseases Disease or Syndrome 187 10 0.060 None 1.000 6 2007 2019
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group Digestive System Diseases Disease or Syndrome 1019 100 0.060 None 1.000 6 1 1993 2019
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 527 263 0.060 None 1.000 6 2019 2019
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 484 34 0.060 None 1.000 6 1 1996 2014
CUI: C0008354
Disease: Cholera
Cholera 		disease Infections Disease or Syndrome 209 1 0.060 None 1.000 6 2002 2019
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: 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: C4551632
Disease: Recurrent pancreatitis
Recurrent pancreatitis 		disease Digestive System Diseases Disease or Syndrome 14 13 0.160 None 1.000 6 2 2005 2019
CUI: C0162429
Disease: Malnutrition
Malnutrition 		disease Nutritional and Metabolic Diseases Disease or Syndrome 417 29 0.060 None 1.000 6 2005 2017
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		disease Respiratory Tract Diseases Disease or Syndrome 352 64 0.050 None 1.000 5 1998 2019
CUI: C0021831
Disease: Intestinal Diseases
Intestinal Diseases 		group Digestive System Diseases Disease or Syndrome 209 13 0.050 None 0.800 5 1999 2019
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 518 138 0.050 None 1.000 5 1998 2014
CUI: C0600260
Disease: Lung Diseases, Obstructive
Lung Diseases, Obstructive 		group Respiratory Tract Diseases Disease or Syndrome 104 4 0.050 None 1.000 5 1 2012 2019
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.050 None 1.000 5 2010 2019
CUI: C0006277
Disease: Bronchitis
Bronchitis 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 58 4 0.050 None 1.000 5 2004 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: 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: C0392171
Disease: Influenza-like symptoms
Influenza-like symptoms 		phenotype Sign or Symptom 30 4 0.040 None < 0.001 4 2007 2016
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease Respiratory Tract Diseases Disease or Syndrome 319 23 0.040 None 1.000 4 1 2011 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.040 None 1.000 4 1996 2020
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.040 None 1.000 4 1 2008 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.330 None 1.000 4 2004 2019
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.040 None 0.750 4 2 2001 2018