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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.040 None 1.000 4 1996 2020
CUI: C3714514
Disease: Infection
Infection
group Infections Pathologic Function 491 0.040 None 1.000 4 2004 2008
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease Digestive System Diseases Disease or Syndrome 188 276 0.040 None 1.000 4 2003 2009
CUI: C0333133
Disease: Mucus cast
Mucus cast
disease Acquired Abnormality 14 0.030 None 1.000 3 2014 2018
Respiratory Distress Syndrome, Adult
disease Respiratory Tract Diseases Disease or Syndrome 434 60 0.030 None 1.000 3 2016 2018
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: C0013238
Disease: Dry Eye Syndromes
Dry Eye Syndromes
disease Eye Diseases Disease or Syndrome 156 1 0.030 None 1.000 3 2017 2018
CUI: C1567435
Disease: Polycystic Kidney - body part
Polycystic Kidney - body part
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 54 1 0.030 None 1.000 3 1996 2008
CUI: C0035204
Disease: Respiration Disorders
Respiration Disorders
group Respiratory Tract Diseases Disease or Syndrome 208 6 0.030 None 1.000 3 1995 2018
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: C0001486
Disease: Adenovirus Infections
Adenovirus Infections
group Infections Disease or Syndrome 145 0.030 None 1.000 3 1994 2007
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 160 10 0.030 None 0.667 3 2004 2019
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.030 None 1.000 3 2015 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.030 None 1.000 3 2014 2017
CUI: C0033817
Disease: Pseudomonas Infections
Pseudomonas Infections
group Infections Disease or Syndrome 16 1 0.030 None 1.000 3 1998 2004
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: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.030 None 1.000 3 2008 2011
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: C0810032
Disease: Pancreatic disorders (not diabetes)
Pancreatic disorders (not diabetes)
group Digestive System Diseases Disease or Syndrome 13 6 0.030 None 1.000 3 2002 2018
CUI: C2609129
Disease: Autoimmune pancreatitis
Autoimmune pancreatitis
disease Digestive System Diseases; Immune System Diseases Disease or Syndrome 49 3 0.030 None 1.000 3 2008 2015
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 150 18 0.020 None 1.000 2 2017 2017
CUI: C0021368
Disease: Inflammation
Inflammation
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 467 0.020 None 1.000 2 2005 2006
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 33 3 0.020 None 1.000 2 2000 2012
Klinefelter's syndrome - male with more than two X chromosomes
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 90 5 0.020 None 1.000 2 2017 2017
CUI: C0017178
Disease: Gastrointestinal Diseases
Gastrointestinal Diseases
group Digestive System Diseases Disease or Syndrome 144 14 0.020 None 1.000 2 2007 2011