DisGeNET - a database of gene-disease associations

Cystic Fibrosis, C0010674

Variant: rs121908752 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121908752

CFTR

0.820

CausalMutation

CLINVAR

Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function.

23891399

2014

dbSNP:

rs121908752

CFTR

0.820

CausalMutation

CLINVAR

Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

25087612

2014

dbSNP:

rs121908752

CFTR

0.820

CausalMutation

CLINVAR

A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.

23951356

2013

dbSNP:

rs121908752

CFTR

0.820

CausalMutation

CLINVAR

Clinical and morphological characteristics of sporadic genetically determined pancreatitis as compared to idiopathic pancreatitis: higher risk of pancreatic cancer in CFTR variants.

23751316

2013

dbSNP:

rs121908752

CFTR

0.820

CausalMutation

CLINVAR

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

23974870

2013

dbSNP:

rs121908752

CFTR

0.820

CausalMutation

CLINVAR

An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

22975760

2013

dbSNP:

rs121908752

CFTR

0.820

CausalMutation

CLINVAR

Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis.

22658665

2012

dbSNP:

rs121908752

CFTR

0.820

CausalMutation

CLINVAR

Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.

21520337

2011

dbSNP:

rs121908752

CFTR

0.820

GeneticVariation

UNIPROT

Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures.

20008117

2010

dbSNP:

rs121908752

CFTR

0.820

GeneticVariation

UNIPROT

Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant.

20150177

2010

dbSNP:

rs121908752

CFTR

0.820

CausalMutation

CLINVAR

Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partners.

20021716

2009

dbSNP:

rs121908752

CFTR

0.820

CausalMutation

CLINVAR

Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

18456578

2008

dbSNP:

rs121908752

CFTR

0.820

GeneticVariation

UNIPROT

Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes.

16822950

2007

dbSNP:

rs121908752

CFTR

0.820

GeneticVariation

UNIPROT

Impact of the deltaF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure.

15528182

2005

dbSNP:

rs121908752

CFTR

0.820

CausalMutation

CLINVAR

Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype.

15776432

2005

dbSNP:

rs121908752

CFTR

0.820

GeneticVariation

UNIPROT

A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates.

12529365

2003

dbSNP:

rs121908752

CFTR

0.820

GeneticVariation

UNIPROT

Variant cystic fibrosis phenotypes in the absence of CFTR mutations.

12167682

2002

dbSNP:

rs121908752

CFTR

0.820

GeneticVariation

UNIPROT

Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.

9452054

1998

dbSNP:

rs121908752

CFTR

0.820

GeneticVariation

UNIPROT

Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.

9554753

1998

dbSNP:

rs121908752

CFTR

0.820

GeneticVariation

UNIPROT

A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.

9452073

1998

dbSNP:

rs121908752

CFTR

0.820

GeneticVariation

UNIPROT

Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.

8829633

1996

dbSNP:

rs121908752

CFTR

0.820

GeneticVariation

UNIPROT

A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin.

8723693

1996

dbSNP:

rs121908752

CFTR

0.820

GeneticVariation

UNIPROT

Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes.

8956039

1996

dbSNP:

rs121908752

CFTR

0.820

GeneticVariation

UNIPROT

A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.

7543567

1995

dbSNP:

rs121908752

CFTR

0.820

GeneticVariation

BEFREE

We report molecular and clinical analyses in four unrelated patients with cystic fibrosis (CF) with compound heterozygosity for the L206W mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR).

8522333

1995