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: C0333133
Disease: Mucus cast
Mucus cast 		disease Acquired Abnormality 14 0.030 None 1.000 3 2014 2018
CUI: C0332853
Disease: Anastomosis
Anastomosis 		disease Acquired Abnormality 155 2 0.010 None 1.000 1 2011 2011
CUI: C1567435
Disease: Polycystic Kidney - body part
Polycystic Kidney - body part 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 54 1 0.030 None 1.000 3 1996 2008
CUI: C0009080
Disease: Clubbed Fingers
Clubbed Fingers 		disease Musculoskeletal Diseases Anatomical Abnormality 88 1 0.110 None 1.000 1 2009 2009
CUI: C0302142
Disease: Deformity
Deformity 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 2019 2019
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: C4025731
Disease: Abnormal thrombosis
Abnormal thrombosis 		disease Anatomical Abnormality 13 1 0.100 None 0
CUI: C4476900
Disease: Abnormal pancreatic duct morphology
Abnormal pancreatic duct morphology 		phenotype Anatomical Abnormality 5 0.100 None 0
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		disease Male Urogenital Diseases Congenital Abnormality 27 210 1.000 strong 0.965 141 205 1992 2019
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: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.070 None 0.714 7 1994 2013
CUI: C0266270
Disease: Pancreas divisum
Pancreas divisum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 4 0.160 None 0.833 6 2007 2013
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.040 None 0.750 4 2003 2019
CUI: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 63 4 0.030 None 1.000 3 1 1996 2016
CUI: C2936423
Disease: Echogenic Bowel
Echogenic Bowel 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Congenital Abnormality 4 1 0.030 None 1.000 3 1 1999 2007
CUI: C0332910
Disease: bilateral agenesis
bilateral agenesis 		disease Congenital Abnormality 2 0.020 None 1.000 2 2006 2011
CUI: C0432474
Disease: Klinefelter's syndrome - male with more than two X chromosomes
Klinefelter's syndrome - male with more than two X chromosomes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 90 5 0.020 None 1.000 2 2017 2017
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 33 3 0.020 None 1.000 2 2000 2012
CUI: C1619700
Disease: RENAL ADYSPLASIA
RENAL ADYSPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 29 6 0.020 None 1.000 2 2000 2012
CUI: C0008340
Disease: Choledochal Cyst
Choledochal Cyst 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality 27 0.400 None 1.000 1 2008 2008
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.010 None 1.000 1 2005 2005
CUI: C0009439
Disease: Choledochal Cyst, Type I
Choledochal Cyst, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality 5 0.300 None 1.000 1 2008 2008
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.010 None 1.000 1 2013 2013
CUI: C0011813
Disease: Dextrocardia
Dextrocardia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 30 6 0.010 None < 0.001 1 2012 2012
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 510 56 0.010 None 1.000 1 1 2011 2011