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: C0340037
Disease: Young Syndrome
Young Syndrome 		disease Infections; Male Urogenital Diseases; Respiratory Tract Diseases Disease or Syndrome 1 0.020 None 0.500 2 1996 1998
CUI: C0043144
Disease: Wheezing
Wheezing 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 132 54 0.100 None 0
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: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		phenotype Organism Attribute 565 1138 0.100 None 1.000 3 2 2018 2019
CUI: C0042880
Disease: Vitamin K Deficiency
Vitamin K Deficiency 		disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 19 2 0.010 None 1.000 1 2017 2017
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		group Infections Disease or Syndrome 1471 42 0.040 None 1.000 4 2011 2017
CUI: C0947751
Disease: Vascular inflammations
Vascular inflammations 		phenotype Cardiovascular Diseases Disease or Syndrome 305 3 0.010 None 1.000 1 2017 2017
CUI: C1865433
Disease: VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		phenotype Finding 1 4 0.100 None 1.000 38 4 1995 2017
CUI: C0041956
Disease: Ureteral obstruction
Ureteral obstruction 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 359 0.010 None 1.000 1 2017 2017
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		disease Digestive System Diseases Disease or Syndrome 1458 827 0.010 None 1.000 1 2015 2015
CUI: C0041466
Disease: Typhoid Fever
Typhoid Fever 		disease Infections Disease or Syndrome 31 5 0.020 None 1.000 2 2005 2010
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.070 None 1.000 7 2010 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: C0040580
Disease: Tracheal Diseases
Tracheal Diseases 		group Respiratory Tract Diseases Disease or Syndrome 155 1 0.070 None 0.857 7 1994 2019
CUI: C0403824
Disease: Teratozoospermia
Teratozoospermia 		disease Male Urogenital Diseases Disease or Syndrome 53 1 0.010 None 1.000 1 2013 2013
CUI: C4016791
Disease: SWEAT CHLORIDE ELEVATION WITHOUT CYSTIC FIBROSIS
SWEAT CHLORIDE ELEVATION WITHOUT CYSTIC FIBROSIS 		disease Finding 1 1 0.100 None 0 1
CUI: C0236969
Disease: Substance-Related Disorders
Substance-Related Disorders 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 128 20 0.300 None 1.000 1 2010 2010
CUI: C0038586
Disease: Substance Use Disorders
Substance Use Disorders 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 218 16 0.300 None 1.000 1 2010 2010
CUI: C0038580
Disease: Substance Dependence
Substance Dependence 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 156 19 0.300 None 1.000 1 2010 2010
CUI: C0740858
Disease: Substance abuse problem
Substance abuse problem 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 185 20 0.300 None 1.000 1 2010 2010
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: C0729353
Disease: Subfertility
Subfertility 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 91 3 0.020 None 1.000 2 2001 2010
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.010 None 1.000 1 2013 2013
CUI: C0238093
Disease: Stenosis of duodenum
Stenosis of duodenum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 29 1 0.100 None 0 1
CUI: C0038238
Disease: Steatorrhea
Steatorrhea 		phenotype Digestive System Diseases; Nutritional and Metabolic Diseases Finding 37 0.100 None 0