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: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 852 704 1.000 None 0.979 2327 632 1989 2020
Congenital bilateral aplasia of vas deferens
disease Male Urogenital Diseases Congenital Abnormality 27 210 1.000 strong 0.965 141 205 1992 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
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
disease Respiratory Tract Diseases Disease or Syndrome 3 38 0.600 strong 0 31
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: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease Digestive System Diseases Disease or Syndrome 82 26 0.200 None 1.000 25 16 1991 2019
CUI: C0024115
Disease: Lung diseases
Lung diseases
group Respiratory Tract Diseases Disease or Syndrome 700 50 0.100 None 0.946 112 14 1991 2020
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
disease Digestive System Diseases Disease or Syndrome 502 80 0.500 None 0.936 47 7 1998 2020
CUI: C0004096
Disease: Asthma
Asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.200 None 0.938 16 6 1999 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: 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: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic
disease Digestive System Diseases Disease or Syndrome 379 56 0.500 None 1.000 47 4 1998 2019
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
phenotype Finding 1 4 0.100 None 1.000 38 4 1995 2017
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.200 None 1.000 23 4 2001 2019
CUI: C4023106
Disease: Obstructive azoospermia
Obstructive azoospermia
disease Male Urogenital Diseases Disease or Syndrome 74 9 0.200 None 1.000 20 4 1998 2019
CUI: C0341471
Disease: Idiopathic chronic pancreatitis
Idiopathic chronic pancreatitis
disease Digestive System Diseases Disease or Syndrome 17 16 0.100 None 1.000 16 4 1998 2015
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: C0006267
Disease: Bronchiectasis
Bronchiectasis
disease Respiratory Tract Diseases Disease or Syndrome 190 15 0.500 strong 0.952 21 3 1995 2019
CUI: C0032285
Disease: Pneumonia
Pneumonia
disease Infections; Respiratory Tract Diseases Disease or Syndrome 1032 33 0.200 None 0.933 15 3 2004 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: 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: C0426576
Disease: Gastrointestinal symptom
Gastrointestinal symptom
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 69 7 0.030 None 1.000 3 3 1992 2016
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.120 None 1.000 2 3 2012 2020
CUI: C3887638
Disease: Failure to thrive in infant
Failure to thrive in infant
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 81 4 0.010 None 1.000 1 3 2012 2012
CUI: C4546076
Disease: Classical cystic fibrosis
Classical cystic fibrosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 1 3 0.010 None 1.000 1 3 2010 2010