CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GermlineCausalMutation disease ORPHANET The most common CF-causing mutation, ΔF508-CFTR, produces CFTR loss-of-function by impairing its cellular targeting to the plasma membrane and its chloride channel gating. 22214395 2012
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		1.000 GermlineCausalMutation disease ORPHANET Structural analysis of CFTR gene in congenital bilateral absence of vas deferens. 7539342 1995
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		1.000 GermlineCausalMutation disease ORPHANET A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. Online. 10651488 1998
CUI: C0267937
Disease: Acute recurrent pancreatitis
Acute recurrent pancreatitis 		0.400 GermlineCausalMutation disease ORPHANET Genetic and electrophysiological characteristics of recurrent acute pancreatitis. 25383785 2015
CUI: C0267937
Disease: Acute recurrent pancreatitis
Acute recurrent pancreatitis 		0.400 GermlineCausalMutation disease ORPHANET CFTR, SPINK1, PRSS1, and CTRC mutations are not associated with pancreatic cancer in German patients. 25003218 2014
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes. 7513293 1994
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations? 15287992 2004
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients. 15365999 2004
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Complex cystic fibrosis allele R334W-R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient. 8844211 1996
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium. 1284534 1992
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Defective CFTR expression and function are detectable in blood monocytes: development of a new blood test for cystic fibrosis. 21811577 2011
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Hypercalciuria and nephrocalcinosis in cystic fibrosis patients. 15074370 2004
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Extensive molecular analysis of patients bearing CFTR-related disorders. 22020151 2012
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR High morbidity and mortality in cystic fibrosis patients compound heterozygous for 3905insT and deltaF508. 11491162 2001
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Rescuing cystic fibrosis transmembrane conductance regulator (CFTR)-processing mutants by transcomplementation. 15141088 2004
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: evidence that 3199del6 is a disease-causing mutation. 15371908 2005
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions. 25066652 2014
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Clinical presentation of mild cystic fibrosis in a Serbian patient homozygous for the CFTR mutation c.1393-1G>A. 23933162 2014
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR A screening approach based on single-strand conformation analysis and direct sequencing of genomic polymerase chain reaction products has allowed us to detect the molecular defects on 95.4% of the CF chromosomes within the coding region and splice sites of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. 7525450 1994
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR CFTR! 1381146 1992
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California. 23810505 2013
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Genotype-phenotype relationships in a cohort of adult cystic fibrosis patients. 8947061 1996
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Pancreatic phenotype in infants with cystic fibrosis identified by mutation screening. 17449517 2007
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Complete screening of the CFTR gene in Argentine cystic fibrosis patients. 12000363 2002
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. 9272157 1997