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: 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: 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: C2749757
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		disease Respiratory Tract Diseases Disease or Syndrome 3 38 0.600 strong 0 31
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		disease Digestive System Diseases Disease or Syndrome 502 80 0.500 None 0.936 47 7 1998 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: C0021364
Disease: Male infertility
Male infertility 		phenotype Male Urogenital Diseases Disease or Syndrome 516 146 0.500 None 1.000 33 1995 2020
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		disease Respiratory Tract Diseases Disease or Syndrome 190 15 0.500 strong 0.952 21 3 1995 2019
CUI: C0004509
Disease: Azoospermia
Azoospermia 		disease Male Urogenital Diseases Disease or Syndrome 254 70 0.500 None 1.000 14 1996 2019
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease Digestive System Diseases Disease or Syndrome 420 15 0.500 strong 1.000 2 1999 2005
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 69 317 0.500 None 1.000 1 2008 2008
CUI: C0267937
Disease: Acute recurrent pancreatitis
Acute recurrent pancreatitis 		disease Digestive System Diseases Disease or Syndrome 18 7 0.400 None 1.000 12 1 2003 2019
CUI: C0008340
Disease: Choledochal Cyst
Choledochal Cyst 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality 27 0.400 None 1.000 1 2008 2008
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: 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: C0037199
Disease: Sinusitis
Sinusitis 		disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 97 0.330 None 1.000 4 1999 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.330 None 1.000 4 2004 2019
CUI: C0339985
Disease: Idiopathic bronchiectasis
Idiopathic bronchiectasis 		disease Respiratory Tract Diseases Disease or Syndrome 21 6 0.320 None 1.000 4 2 2006 2015
CUI: C0848676
Disease: Subfertility, Male
Subfertility, Male 		phenotype Male Urogenital Diseases Sign or Symptom 70 2 0.310 None 1.000 3 2007 2017
CUI: C0917731
Disease: Male sterility
Male sterility 		phenotype Male Urogenital Diseases Finding 48 0.300 None 1.000 2 2007 2008
CUI: C1257796
Disease: Choledochal Cyst, Type II
Choledochal Cyst, Type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality 5 0.300 None 1.000 1 2008 2008
CUI: C1257797
Disease: Choledochal Cyst, Type III
Choledochal Cyst, Type III 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality 5 0.300 None 1.000 1 2008 2008
CUI: C0013170
Disease: Drug habituation
Drug habituation 		phenotype Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 196 19 0.300 None 1.000 1 2010 2010
CUI: C1257798
Disease: Choledochal Cyst, Type IV
Choledochal Cyst, Type IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality 5 0.300 None 1.000 1 2008 2008
CUI: C0013222
Disease: Drug Use Disorders
Drug Use Disorders 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 121 0.300 None 1.000 1 2010 2010