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: C0024115
Disease: Lung diseases
Lung diseases
group Respiratory Tract Diseases Disease or Syndrome 700 50 0.100 None 0.946 112 14 1991 2020
CUI: C0876973
Disease: Infectious Lung Disorder
Infectious Lung Disorder
group Infections; Respiratory Tract Diseases Disease or Syndrome 185 1 0.100 None 1.000 23 1997 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 18 1 1992 2019
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections
group Infections Disease or Syndrome 616 17 0.100 None 1.000 14 1998 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.100 None 0.929 14 2012 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.200 None 1.000 12 4 2003 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.100 None 0.900 10 2012 2019
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 276 54 0.080 None 1.000 8 1996 2019
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome
group Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 239 0.170 None 1.000 7 2008 2017
CUI: C0030286
Disease: Pancreatic Diseases
Pancreatic Diseases
group Digestive System Diseases Disease or Syndrome 100 11 0.170 None 1.000 7 3 1997 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: C0040580
Disease: Tracheal Diseases
Tracheal Diseases
group Respiratory Tract Diseases Disease or Syndrome 155 1 0.070 None 0.857 7 1994 2019
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: C0035243
Disease: Respiratory Tract Infections
Respiratory Tract Infections
group Infections; Respiratory Tract Diseases Disease or Syndrome 187 10 0.060 None 1.000 6 2007 2019
CUI: C0021831
Disease: Intestinal Diseases
Intestinal Diseases
group Digestive System Diseases Disease or Syndrome 209 13 0.050 None 0.800 5 1999 2019
CUI: C0600260
Disease: Lung Diseases, Obstructive
Lung Diseases, Obstructive
group Respiratory Tract Diseases Disease or Syndrome 104 4 0.050 None 1.000 5 1 2012 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.040 None 0.750 4 2003 2019
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
group Neoplasms Neoplastic Process 2235 168 0.040 None 1.000 4 2007 2019
CUI: C0030469
Disease: Paranasal Sinus Disorder
Paranasal Sinus Disorder
group Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 8 1 0.040 None 1.000 4 1 2014 2019
CUI: C0042769
Disease: Virus Diseases
Virus Diseases
group Infections Disease or Syndrome 1471 42 0.040 None 1.000 4 2011 2017
CUI: C3714514
Disease: Infection
Infection
group Infections Pathologic Function 491 0.040 None 1.000 4 2004 2008
CUI: C0001486
Disease: Adenovirus Infections
Adenovirus Infections
group Infections Disease or Syndrome 145 0.030 None 1.000 3 1994 2007
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
group Digestive System Diseases Disease or Syndrome 1577 605 0.030 None 1.000 3 2003 2018
CUI: C0033817
Disease: Pseudomonas Infections
Pseudomonas Infections
group Infections Disease or Syndrome 16 1 0.030 None 1.000 3 1998 2004
CUI: C0035204
Disease: Respiration Disorders
Respiration Disorders
group Respiratory Tract Diseases Disease or Syndrome 208 6 0.030 None 1.000 3 1995 2018