CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 42; N. variants: 633
Source: CURATED ×
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: 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 15 1991 2018
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 9 0.390 None 1.000 15 1991 2017
CUI: C0339985
Disease: Idiopathic bronchiectasis
Idiopathic bronchiectasis 		disease Respiratory Tract Diseases Disease or Syndrome 4 1 0.320 None 1.000 2 2006 2015
CUI: C0267937
Disease: Acute recurrent pancreatitis
Acute recurrent pancreatitis 		disease Digestive System Diseases Disease or Syndrome 4 0.400 None 1.000 2 2003 2019
CUI: C0848676
Disease: Subfertility, Male
Subfertility, Male 		phenotype Male Urogenital Diseases Sign or Symptom 48 0.310 None 1.000 2 2007 2017
CUI: C0917731
Disease: Male sterility
Male sterility 		phenotype Male Urogenital Diseases Finding 48 0.300 None 1.000 2 2007 2008
CUI: C0021364
Disease: Male infertility
Male infertility 		phenotype Male Urogenital Diseases Disease or Syndrome 48 9 0.500 None 1.000 2 1995 2020
CUI: C0236969
Disease: Substance-Related Disorders
Substance-Related Disorders 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 115 18 0.300 None 1.000 1 2010 2010
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		disease Digestive System Diseases Disease or Syndrome 9 2 0.500 None 1.000 1 1998 2019
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 9 317 0.500 None 1.000 1 2008 2008
CUI: C4316881
Disease: Prescription Drug Abuse
Prescription Drug Abuse 		phenotype Chemically-Induced Disorders; Mental Disorders Finding 115 0.300 None 1.000 1 2010 2010
CUI: C0035455
Disease: Rhinitis
Rhinitis 		disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 8 2 0.300 None 1.000 1 2005 2005
CUI: C0740858
Disease: Substance abuse problem
Substance abuse problem 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 116 0.300 None 1.000 1 2010 2010
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: 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: C1257799
Disease: Choledochal Cyst, Type V
Choledochal Cyst, Type V 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality 5 0.300 None 1.000 1 2008 2008
CUI: C1510472
Disease: Drug Dependence
Drug Dependence 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 115 0.300 None 1.000 1 2010 2010
CUI: C0038586
Disease: Substance Use Disorders
Substance Use Disorders 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 115 0.300 None 1.000 1 2010 2010
CUI: C0038580
Disease: Substance Dependence
Substance Dependence 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 115 1 0.300 None 1.000 1 2010 2010
CUI: C0004509
Disease: Azoospermia
Azoospermia 		disease Male Urogenital Diseases Disease or Syndrome 5 4 0.500 None 1.000 1 1996 2019
CUI: C0008340
Disease: Choledochal Cyst
Choledochal Cyst 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality 5 0.400 None 1.000 1 2008 2008
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease Digestive System Diseases Disease or Syndrome 110 4 0.500 strong 1.000 1 1999 2005
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 702 856 0.330 None 1.000 1 2004 2019
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 277 586 0.300 None 1.000 1 2012 2012