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: C0011991
Disease: Diarrhea
Diarrhea 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 632 63 0.100 None 1.000 12 2002 2019
CUI: C0037090
Disease: Signs and Symptoms, Respiratory
Signs and Symptoms, Respiratory 		group Pathological Conditions, Signs and Symptoms Sign or Symptom 73 10 0.070 None 1.000 7 2 2010 2019
CUI: C0009806
Disease: Constipation
Constipation 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 424 57 0.040 None 1.000 4 2016 2019
CUI: C0392171
Disease: Influenza-like symptoms
Influenza-like symptoms 		phenotype Sign or Symptom 30 4 0.040 None < 0.001 4 2007 2016
CUI: C0314719
Disease: Dryness of eye
Dryness of eye 		phenotype Eye Diseases Sign or Symptom 149 1 0.030 None 1.000 3 2017 2018
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: C0848676
Disease: Subfertility, Male
Subfertility, Male 		phenotype Male Urogenital Diseases Sign or Symptom 70 2 0.310 None 1.000 3 2007 2017
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 302 18 0.110 None 1.000 1 2019 2019
CUI: C0006625
Disease: Cachexia
Cachexia 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 273 11 0.110 None 1.000 1 2009 2009
CUI: C0010200
Disease: Coughing
Coughing 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 235 16 0.010 None 1.000 1 2011 2011
CUI: C0015230
Disease: Exanthema
Exanthema 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 251 14 0.010 None 1.000 1 2001 2001
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: C0030193
Disease: Pain
Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.010 None 1.000 1 2011 2011
CUI: C0149651
Disease: Clubbing
Clubbing 		phenotype Sign or Symptom 32 1 0.110 None 1.000 1 2009 2009
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.010 None 1.000 1 2010 2010
CUI: C0239182
Disease: Watery diarrhoea
Watery diarrhoea 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 5 1 0.010 None 1.000 1 2018 2018
CUI: C0278134
Disease: Absence of sensation
Absence of sensation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 111 5 0.010 None 1.000 1 2017 2017
CUI: C0522070
Disease: Pancreatic symptom
Pancreatic symptom 		phenotype Sign or Symptom 5 0.010 None 1.000 1 2013 2013
CUI: C0877664
Disease: Gastrointestinal cramps
Gastrointestinal cramps 		phenotype Sign or Symptom 1 0.010 None 1.000 1 2009 2009
CUI: C1443924
Disease: Severe diarrhea
Severe diarrhea 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 47 6 0.010 None 1.000 1 2018 2018
CUI: C3160897
Disease: Opioid-Induced Constipation
Opioid-Induced Constipation 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 8 0.010 None 1.000 1 2017 2017
CUI: C0008031
Disease: Chest Pain
Chest Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 154 7 0.100 None 0
CUI: C0013404
Disease: Dyspnea
Dyspnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 222 26 0.100 None 0
CUI: C0015967
Disease: Fever
Fever 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 0.100 None 0
CUI: C0018520
Disease: Halitosis
Halitosis 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 48 0.100 None 0