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.
Polycystic Kidney, Autosomal Dominant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 280 35 0.090 None 1.000 9 1996 2019
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2689 322 0.090 None 0.889 9 1994 2018
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.080 None 0.875 8 2003 2018
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.080 None 1.000 8 2009 2019
CUI: C0000846
Disease: Agenesis
Agenesis
disease Congenital Abnormality 161 44 0.070 None 0.714 7 1994 2013
Aspergillosis, Allergic Bronchopulmonary
disease Infections; Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 31 6 0.070 None 1.000 7 3 1996 2018
CUI: C0008677
Disease: Bronchitis, Chronic
Bronchitis, Chronic
disease Infections; Respiratory Tract Diseases Disease or Syndrome 118 9 0.170 None 1.000 7 1995 2019
CUI: C0149516
Disease: Chronic sinusitis
Chronic sinusitis
disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 205 6 0.070 None 1.000 7 2001 2019
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis
disease Digestive System Diseases Disease or Syndrome 158 108 0.730 strong 1.000 7 36 1999 2013
CUI: C0376670
Disease: Pancreatitis, Alcoholic
Pancreatitis, Alcoholic
disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 61 86 0.070 None 0.714 7 1 1999 2015
CUI: C0699949
Disease: airway disease
airway disease
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 198 1 0.070 None 1.000 7 1999 2020
CUI: C2939175
Disease: Meconium ileus
Meconium ileus
disease Digestive System Diseases Disease or Syndrome 24 16 0.170 None 1.000 7 5 1999 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: C0008354
Disease: Cholera
Cholera
disease Infections Disease or Syndrome 209 1 0.060 None 1.000 6 2002 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: C0162429
Disease: Malnutrition
Malnutrition
disease Nutritional and Metabolic Diseases Disease or Syndrome 417 29 0.060 None 1.000 6 2005 2017
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: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.060 None 1.000 6 1991 2014
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: 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: C0006277
Disease: Bronchitis
Bronchitis
disease Infections; Respiratory Tract Diseases Disease or Syndrome 58 4 0.050 None 1.000 5 2004 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: 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: 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: 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