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: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 852 704 1.000 None 0.979 2327 632 1989 2020
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: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		disease Digestive System Diseases Disease or Syndrome 379 56 0.500 None 1.000 47 4 1998 2019
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		disease Digestive System Diseases Disease or Syndrome 502 80 0.500 None 0.936 47 7 1998 2020
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: C0021364
Disease: Male infertility
Male infertility 		phenotype Male Urogenital Diseases Disease or Syndrome 516 146 0.500 None 1.000 33 1995 2020
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency 		disease Digestive System Diseases Disease or Syndrome 82 26 0.200 None 1.000 25 16 1991 2019
CUI: C0392164
Disease: Pulmonary Cystic Fibrosis
Pulmonary Cystic Fibrosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 53 0.390 None 1.000 24 1991 2017
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens 		disease Congenital Abnormality 10 0.200 None 1.000 24 1995 2019
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.200 None 1.000 23 4 2001 2019
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: C0030293
Disease: Pancreatic Insufficiency
Pancreatic Insufficiency 		disease Digestive System Diseases Disease or Syndrome 21 23 0.100 None 1.000 21 18 1991 2019
CUI: C4023106
Disease: Obstructive azoospermia
Obstructive azoospermia 		disease Male Urogenital Diseases Disease or Syndrome 74 9 0.200 None 1.000 20 4 1998 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 18 1 1992 2019
CUI: C1527396
Disease: Fibrocystic Disease of Pancreas
Fibrocystic Disease of Pancreas 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 9 0.330 None 1.000 18 1991 2018
CUI: C0747198
Disease: pancreatitis idiopathic
pancreatitis idiopathic 		disease Disease or Syndrome 5 4 0.100 None 1.000 17 1 1998 2016
CUI: C0341471
Disease: Idiopathic chronic pancreatitis
Idiopathic chronic pancreatitis 		disease Digestive System Diseases Disease or Syndrome 17 16 0.100 None 1.000 16 4 1998 2015
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.200 None 0.938 16 6 1999 2019
CUI: C0032285
Disease: Pneumonia
Pneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 1032 33 0.200 None 0.933 15 3 2004 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.100 None 0.929 14 2012 2019
CUI: C0004509
Disease: Azoospermia
Azoospermia 		disease Male Urogenital Diseases Disease or Syndrome 254 70 0.500 None 1.000 14 1996 2019
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections 		group Infections Disease or Syndrome 616 17 0.100 None 1.000 14 1998 2018
CUI: C0854135
Disease: Pseudomonas aeruginosa infection
Pseudomonas aeruginosa infection 		disease Infections Disease or Syndrome 49 1 0.100 None 1.000 13 1996 2019
CUI: C0011991
Disease: Diarrhea
Diarrhea 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 632 63 0.100 None 1.000 12 2002 2019
CUI: C0028960
Disease: Oligospermia
Oligospermia 		disease Male Urogenital Diseases Disease or Syndrome 217 72 0.200 None 1.000 12 1998 2020