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: 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: 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: C0747198
Disease: pancreatitis idiopathic
pancreatitis idiopathic 		disease Disease or Syndrome 5 4 0.100 None 1.000 17 1 1998 2016
CUI: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.070 None 0.714 7 1994 2013
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.070 None 1.000 7 2010 2019
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: C0392171
Disease: Influenza-like symptoms
Influenza-like symptoms 		phenotype Sign or Symptom 30 4 0.040 None < 0.001 4 2007 2016
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		phenotype Organism Attribute 565 1138 0.100 None 1.000 3 2 2018 2019
CUI: C0333133
Disease: Mucus cast
Mucus cast 		disease Acquired Abnormality 14 0.030 None 1.000 3 2014 2018
CUI: C0375023
Disease: Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 467 14 0.030 None 1.000 3 2010 2013
CUI: C0332910
Disease: bilateral agenesis
bilateral agenesis 		disease Congenital Abnormality 2 0.020 None 1.000 2 2006 2011
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.020 None 1.000 2 2009 2014
CUI: C4732730
Disease: Blood spots
Blood spots 		disease Disease or Syndrome 117 0.020 None 1.000 2 2011 2016
CUI: C0149651
Disease: Clubbing
Clubbing 		phenotype Sign or Symptom 32 1 0.110 None 1.000 1 2009 2009
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		group Mental or Behavioral Dysfunction 360 56 0.010 None 1.000 1 2018 2018
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		phenotype Disease or Syndrome 45 24 0.010 None 1.000 1 2019 2019
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		disease Disease or Syndrome 49 13 0.010 None 1.000 1 2005 2005
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		disease Disease or Syndrome 14 12 0.010 None 1.000 1 2016 2016
CUI: C0332853
Disease: Anastomosis
Anastomosis 		disease Acquired Abnormality 155 2 0.010 None 1.000 1 2011 2011
CUI: C0332909
Disease: Congenital unilateral absence
Congenital unilateral absence 		disease Congenital Abnormality 2 0.010 None 1.000 1 2019 2019
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia 		phenotype Disease or Syndrome 266 24 0.010 None 1.000 1 2013 2013
CUI: C0398349
Disease: Distal intestinal obstruction syndrome
Distal intestinal obstruction syndrome 		disease Disease or Syndrome 1 0.010 None 1.000 1 2004 2004
CUI: C0522070
Disease: Pancreatic symptom
Pancreatic symptom 		phenotype Sign or Symptom 5 0.010 None 1.000 1 2013 2013
CUI: C0574143
Disease: Liver calculus
Liver calculus 		disease Disease or Syndrome 45 0.010 None 1.000 1 2002 2002
CUI: C0853277
Disease: Pseudo-Bartter syndrome
Pseudo-Bartter syndrome 		disease Disease or Syndrome 2 2 0.010 None 1.000 1 2 2019 2019