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.
Congenital bilateral aplasia of vas deferens
disease Male Urogenital Diseases Congenital Abnormality 27 210 1.000 strong 0.965 141 205 1992 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: 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: C0008370
Disease: Cholestasis
Cholestasis
disease Digestive System Diseases Disease or Syndrome 420 15 0.500 strong 1.000 2 1999 2005
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
disease Respiratory Tract Diseases Disease or Syndrome 3 38 0.600 strong 0 31
CUI: C0449439
Disease: Carrier status
Carrier status
phenotype Finding 3 6 0.300 strong 0
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
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: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic
disease Digestive System Diseases Disease or Syndrome 379 56 0.500 None 1.000 47 4 1998 2019
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
disease Digestive System Diseases Disease or Syndrome 502 80 0.500 None 0.936 47 7 1998 2020
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
phenotype Finding 1 4 0.100 None 1.000 38 4 1995 2017
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype Male Urogenital Diseases Disease or Syndrome 516 146 0.500 None 1.000 33 1995 2020
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: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens
disease Congenital Abnormality 10 0.200 None 1.000 24 1995 2019
CUI: C0392164
Disease: Pulmonary Cystic Fibrosis
Pulmonary Cystic Fibrosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 53 0.390 None 1.000 24 1991 2017
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: 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: 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: 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: C1527396
Disease: Fibrocystic Disease of Pancreas
Fibrocystic Disease of Pancreas
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 9 0.330 None 1.000 18 1991 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 18 1 1992 2019
CUI: C0747198
Disease: pancreatitis idiopathic
pancreatitis idiopathic
disease Disease or Syndrome 5 4 0.100 None 1.000 17 1 1998 2016
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: 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: C0032285
Disease: Pneumonia
Pneumonia
disease Infections; Respiratory Tract Diseases Disease or Syndrome 1032 33 0.200 None 0.933 15 3 2004 2019