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: 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: 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: 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: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.060 None 1.000 6 1991 2014
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: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 18 1 1992 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: C2936781
Disease: Generalized Myotonia of Thomsen
Generalized Myotonia of Thomsen 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 61 0.010 None 1.000 1 1992 1992
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group Digestive System Diseases Disease or Syndrome 1019 100 0.060 None 1.000 6 1 1993 2019
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 55 0.010 None 1.000 1 1993 1993
CUI: C0267818
Disease: Bile duct proliferation
Bile duct proliferation 		disease Digestive System Diseases Disease or Syndrome 30 0.010 None 1.000 1 1993 1993
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: C0040580
Disease: Tracheal Diseases
Tracheal Diseases 		group Respiratory Tract Diseases Disease or Syndrome 155 1 0.070 None 0.857 7 1994 2019
CUI: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.070 None 0.714 7 1994 2013
CUI: C0001486
Disease: Adenovirus Infections
Adenovirus Infections 		group Infections Disease or Syndrome 145 0.030 None 1.000 3 1994 2007
CUI: C1865433
Disease: VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
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: 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: C0006267
Disease: Bronchiectasis
Bronchiectasis 		disease Respiratory Tract Diseases Disease or Syndrome 190 15 0.500 strong 0.952 21 3 1995 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: C0035204
Disease: Respiration Disorders
Respiration Disorders 		group Respiratory Tract Diseases Disease or Syndrome 208 6 0.030 None 1.000 3 1995 2018
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		group Respiratory Tract Diseases Disease or Syndrome 198 109 0.020 None 1.000 2 1995 2017
CUI: C0008497
Disease: Choriocarcinoma
Choriocarcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 431 2 0.010 None 1.000 1 1995 1995
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		group Neoplasms; Respiratory Tract Diseases Neoplastic Process 1486 39 0.010 None 1.000 1 1995 1995
CUI: C0002793
Disease: Anaplasia
Anaplasia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 538 7 0.010 None < 0.001 1 1995 1995