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: C0267937
Disease: Acute recurrent pancreatitis
Acute recurrent pancreatitis
disease Digestive System Diseases Disease or Syndrome 18 7 0.400 None 1.000 12 1 2003 2019
CUI: C3714636
Disease: Pneumonitis
Pneumonitis
disease Infections; Respiratory Tract Diseases Disease or Syndrome 697 13 0.100 None 0.917 12 2004 2019
CUI: C0267557
Disease: Secretory diarrhea
Secretory diarrhea
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 19 2 0.100 None 1.000 12 2006 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.200 None 1.000 12 4 2003 2019
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
disease Digestive System Diseases Disease or Syndrome 435 51 0.100 None 1.000 11 2 2002 2019
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
disease Digestive System Diseases Disease or Syndrome 264 58 0.100 None 1.000 10 1 1996 2019
CUI: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.100 None 1.000 10 1 2003 2018
CUI: C0011175
Disease: Dehydration
Dehydration
phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 295 6 0.100 None 1.000 10 1999 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.100 None 0.900 10 2012 2019
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: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 276 54 0.080 None 1.000 8 1996 2019
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: 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: C0037090
Disease: Signs and Symptoms, Respiratory
Signs and Symptoms, Respiratory
group Pathological Conditions, Signs and Symptoms Sign or Symptom 73 10 0.070 None 1.000 7 2 2010 2019
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: 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: C0040580
Disease: Tracheal Diseases
Tracheal Diseases
group Respiratory Tract Diseases Disease or Syndrome 155 1 0.070 None 0.857 7 1994 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
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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.070 None 1.000 7 2010 2019
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: C0030286
Disease: Pancreatic Diseases
Pancreatic Diseases
group Digestive System Diseases Disease or Syndrome 100 11 0.170 None 1.000 7 3 1997 2019
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: C0000846
Disease: Agenesis
Agenesis
disease Congenital Abnormality 161 44 0.070 None 0.714 7 1994 2013