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
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: C0021364
Disease: Male infertility
Male infertility 		phenotype Male Urogenital Diseases Disease or Syndrome 516 146 0.500 None 1.000 33 1995 2020
CUI: C0028960
Disease: Oligospermia
Oligospermia 		disease Male Urogenital Diseases Disease or Syndrome 217 72 0.200 None 1.000 12 1998 2020
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: C2242728
Disease: Cystic fibrosis related diabetes
Cystic fibrosis related diabetes 		disease Disease or Syndrome 8 0.060 None 1.000 6 2015 2020
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.040 None 1.000 4 1996 2020
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
CUI: C1847540
Disease: Azoospermia, Nonobstructive
Azoospermia, Nonobstructive 		disease Male Urogenital Diseases Disease or Syndrome 91 22 0.020 None 1.000 2 2001 2020
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: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 2507 257 0.020 None 1.000 2 2011 2020
CUI: C0878787
Disease: Growth failure
Growth failure 		phenotype Disease or Syndrome 84 7 0.010 None 1.000 1 2020 2020
CUI: C0018834
Disease: Heartburn
Heartburn 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 139 5 0.010 None 1.000 1 2020 2020
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.010 None 1.000 1 2020 2020
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		disease Male Urogenital Diseases Congenital Abnormality 27 210 1.000 strong 0.965 141 205 1992 2019
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: 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: 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: C0006267
Disease: Bronchiectasis
Bronchiectasis 		disease Respiratory Tract Diseases Disease or Syndrome 190 15 0.500 strong 0.952 21 3 1995 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: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 18 1 1992 2019