CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 365; N. variants: 133
Source: BEFREE ×
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: C0000737
Disease: Abdominal Pain
Abdominal Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 82 7 0.110 None 1.000 1 2019 2019
CUI: C0278134
Disease: Absence of sensation
Absence of sensation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 111 5 0.010 None 1.000 1 2017 2017
CUI: C0403819
Disease: Acquired obstructive azoospermia
Acquired obstructive azoospermia 		disease Male Urogenital Diseases Disease or Syndrome 1 0.010 None 1.000 1 2013 2013
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 103 25 0.020 None 1.000 2 2011 2015
CUI: C1279945
Disease: Acute interstitial pneumonia
Acute interstitial pneumonia 		disease Respiratory Tract Diseases Disease or Syndrome 88 8 0.020 None 1.000 2 2011 2015
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 602 50 0.020 None 1.000 2 2017 2019
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		disease Digestive System Diseases Disease or Syndrome 426 51 0.100 None 1.000 11 2 2002 2019
CUI: C0267937
Disease: Acute recurrent pancreatitis
Acute recurrent pancreatitis 		disease Digestive System Diseases Disease or Syndrome 17 7 0.400 None 1.000 10 1 2003 2019
CUI: C0748355
Disease: Acute respiratory distress
Acute respiratory distress 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 147 6 0.010 None 1.000 1 2016 2016
CUI: C0431129
Disease: Adamantinous Craniopharyngioma
Adamantinous Craniopharyngioma 		disease Neoplasms Neoplastic Process 48 6 0.010 None 1.000 1 2003 2003
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		group Neoplasms Neoplastic Process 2080 167 0.040 None 1.000 2 2007 2019
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 457 52 0.110 None 1.000 1 1 2016 2018
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		disease Neoplasms Neoplastic Process 2246 183 0.010 None 1.000 1 2018 2018
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 495 24 0.050 None 1.000 5 1998 2014
CUI: C0001486
Disease: Adenovirus Infections
Adenovirus Infections 		group Infections Disease or Syndrome 142 0.030 None 1.000 3 1994 2007
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 289 31 0.010 None 1.000 1 2003 2003
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2019 2019
CUI: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.070 None 0.714 7 1994 2013
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: C0001883
Disease: Airway Obstruction
Airway Obstruction 		group Respiratory Tract Diseases Disease or Syndrome 104 5 0.010 None 1.000 1 2015 2015
CUI: C2931404
Disease: Albright's hereditary osteodystrophy
Albright's hereditary osteodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 21 0.010 None 1.000 1 2007 2007
CUI: C0002063
Disease: Alkalosis
Alkalosis 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 18 2 0.010 None 1.000 1 2 2004 2004
CUI: C0155877
Disease: Allergic asthma
Allergic asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 371 55 0.010 None 1.000 1 2017 2017
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 73 6 0.010 None 1.000 1 2012 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3131 968 0.010 None 1.000 1 2003 2003