CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 365; N. variants: 133
Source: BEFREE ×
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: C0002793
Disease: Anaplasia
Anaplasia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 538 7 0.010 None < 0.001 1 1995 1995
CUI: C0332853
Disease: Anastomosis
Anastomosis 		disease Acquired Abnormality 155 2 0.010 None 1.000 1 2011 2011
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 573 79 0.010 None 1.000 1 2019 2019
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1409 62 0.020 None 1.000 2 2013 2019
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 414 50 0.010 None 1.000 1 2010 2010
CUI: C0004030
Disease: Aspergillosis
Aspergillosis 		disease Infections Disease or Syndrome 42 2 0.010 None 1.000 1 2002 2002
CUI: C0004031
Disease: Aspergillosis, Allergic Bronchopulmonary
Aspergillosis, Allergic Bronchopulmonary 		disease Infections; Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 31 6 0.070 None 1.000 7 3 1996 2018
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia 		disease Male Urogenital Diseases Disease or Syndrome 117 16 0.010 None 1.000 1 2013 2013
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 1731 714 0.200 None 0.938 16 4 1999 2019
CUI: C0394005
Disease: Ataxic cerebral palsy
Ataxic cerebral palsy 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 25 4 0.010 None 1.000 1 2003 2003
CUI: C4546077
Disease: Atypical cystic fibrosis
Atypical cystic fibrosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 1 5 0.050 None 1.000 5 5 2001 2013
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1679 213 0.010 None 1.000 1 2018 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: C0004509
Disease: Azoospermia
Azoospermia 		disease Male Urogenital Diseases Disease or Syndrome 181 66 0.500 None 1.000 13 1996 2019
CUI: C1847540
Disease: Azoospermia, Nonobstructive
Azoospermia, Nonobstructive 		disease Male Urogenital Diseases Disease or Syndrome 90 22 0.020 None 1.000 2 2001 2020
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections 		group Infections Disease or Syndrome 604 17 0.100 None 1.000 14 1998 2018
CUI: C0332910
Disease: bilateral agenesis
bilateral agenesis 		disease Congenital Abnormality 2 0.020 None 1.000 2 2006 2011
CUI: C1332549
Disease: Bilateral Carcinoma
Bilateral Carcinoma 		phenotype Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2004 2004
CUI: C4524087
Disease: Bile acid diarrhea
Bile acid diarrhea 		disease Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C0267818
Disease: Bile duct proliferation
Bile duct proliferation 		disease Digestive System Diseases Disease or Syndrome 15 0.010 None 1.000 1 1993 1993
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2055 278 0.010 None 1.000 1 2012 2012
CUI: C4732730
Disease: Blood spots
Blood spots 		disease Disease or Syndrome 117 0.020 None 1.000 2 2011 2016
CUI: C0152244
Disease: Bone Cysts, Aneurysmal
Bone Cysts, Aneurysmal 		disease Neoplasms; Musculoskeletal Diseases Disease or Syndrome 79 5 0.010 None 1.000 1 1 2009 2009
CUI: C0005940
Disease: Bone Diseases
Bone Diseases 		group Musculoskeletal Diseases Disease or Syndrome 302 10 0.020 None 1.000 2 2013 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6500 2145 0.040 None 1.000 4 1996 2020