Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		disease 0.500 None 0.936 0 0 1998 2020
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		disease 0.500 None 1.000 0 0 1998 2019
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0021364
Disease: Male infertility
Male infertility 		phenotype 0.500 None 1.000 0 0 1995 2020
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		disease 0.500 strong 0.952 0 0 1995 2019
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0004509
Disease: Azoospermia
Azoospermia 		disease 0.500 None 1.000 0 0 1996 2019
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0008340
Disease: Choledochal Cyst
Choledochal Cyst 		disease 0.400 None 1.000 0 0 2008 2008
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0004096
Disease: Asthma
Asthma 		disease 0.200 None 0.938 0 0 1999 2019
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C4023106
Disease: Obstructive azoospermia
Obstructive azoospermia 		disease 0.200 None 1.000 0 0 1998 2019
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0028960
Disease: Oligospermia
Oligospermia 		disease 0.200 None 1.000 0 0 1998 2020
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens 		disease 0.200 None 1.000 0 0 1995 2019
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group 0.200 None 1.000 0 0 2003 2019
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency 		disease 0.200 None 1.000 0 0 1991 2019
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		group 0.170 None 1.000 0 0 2008 2017
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C2939175
Disease: Meconium ileus
Meconium ileus 		disease 0.170 None 1.000 0 0 1999 2019
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0008677
Disease: Bronchitis, Chronic
Bronchitis, Chronic 		disease 0.170 None 1.000 0 0 1995 2019
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C4551632
Disease: Recurrent pancreatitis
Recurrent pancreatitis 		disease 0.160 None 1.000 0 0 2005 2019
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0266270
Disease: Pancreas divisum
Pancreas divisum 		disease 0.160 None 0.833 0 0 2007 2013
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0746102
Disease: Chronic lung disease
Chronic lung disease 		disease 0.140 None 1.000 0 0 2005 2012
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.120 None 1.000 0 0 2012 2020
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia 		disease 0.120 None 1.000 0 0 2014 2017
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0149651
Disease: Clubbing
Clubbing 		phenotype 0.110 None 1.000 0 0 2009 2009
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0034072
Disease: Cor pulmonale
Cor pulmonale 		disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C3163798
Disease: Recurrent lower respiratory tract infection
Recurrent lower respiratory tract infection 		phenotype 0.110 None 1.000 0 0 2017 2017
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		disease 0.110 None 1.000 0 0 2012 2012