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: 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: C0151650
Disease: Renal fibrosis
Renal fibrosis 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 570 1 0.010 None 1.000 1 2017 2017
CUI: C0151476
Disease: Hypochloremic alkalosis
Hypochloremic alkalosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 2 1 0.010 None 1.000 1 1 2018 2018
CUI: C0149725
Disease: Lower respiratory tract infection
Lower respiratory tract infection 		group Infections; Respiratory Tract Diseases Disease or Syndrome 63 7 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: C0403823
Disease: Asthenozoospermia
Asthenozoospermia 		disease Male Urogenital Diseases Disease or Syndrome 164 17 0.010 None 1.000 1 2013 2013
CUI: C1827849
Disease: IgE-mediated allergic asthma
IgE-mediated allergic asthma 		disease Immune System Diseases Disease or Syndrome 133 46 0.010 None 1.000 1 2017 2017
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.010 None 1.000 1 2020 2020
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 311 827 0.010 None 1.000 1 2018 2018
CUI: C1840264
Disease: IMMUNE SUPPRESSION
IMMUNE SUPPRESSION 		phenotype Disease or Syndrome 222 3 0.010 None 1.000 1 2019 2019
CUI: C1842402
Disease: TROPICAL CALCIFIC PANCREATITIS
TROPICAL CALCIFIC PANCREATITIS 		disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 24 13 0.010 None 1.000 1 2010 2010
CUI: C0026916
Disease: Mycobacterium avium-intracellulare Infection
Mycobacterium avium-intracellulare Infection 		disease Infections Disease or Syndrome 58 5 0.010 None 1.000 1 2007 2007
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process 69 44 0.010 None 1.000 1 1997 1997
CUI: C0025218
Disease: Chloasma
Chloasma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 25 0.010 None 1.000 1 2012 2012
CUI: C0024809
Disease: Marijuana Abuse
Marijuana Abuse 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 156 23 0.010 None 1.000 1 2018 2018
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.010 None 1.000 1 2013 2013
CUI: C0024232
Disease: Lymphatic Metastasis
Lymphatic Metastasis 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 463 10 0.010 None 1.000 1 2012 2012
CUI: C1857231
Disease: LACTASE PERSISTENCE
LACTASE PERSISTENCE 		phenotype Disease or Syndrome 15 9 0.010 None 1.000 1 2011 2011
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		group Neoplasms; Respiratory Tract Diseases Neoplastic Process 1486 39 0.010 None 1.000 1 1995 1995
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.010 None 1.000 1 2010 2010
CUI: C0029883
Disease: Otitis Media with Effusion
Otitis Media with Effusion 		disease Otorhinolaryngologic Diseases Disease or Syndrome 110 1 0.010 None 1.000 1 2004 2004
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 198 59 0.010 None 1.000 1 2005 2005
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 481 47 0.010 None 1.000 1 2017 2017
CUI: C1608955
Disease: Mycobacterium abscessus Infection
Mycobacterium abscessus Infection 		disease Infections Disease or Syndrome 6 0.010 None 1.000 1 2019 2019
CUI: C0033770
Disease: Prune Belly Syndrome
Prune Belly Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 83 2 0.010 None 1.000 1 2019 2019