DisGeNET - a database of gene-disease associations

Cystic Fibrosis, C0010674

Variant: rs201124247 ×

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:

rs201124247

CFTR

0.800

CausalMutation

CLINVAR

Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens.

15333598

2004

dbSNP:

rs201124247

CFTR

0.800

CausalMutation

CLINVAR

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

23974870

2013

dbSNP:

rs201124247

CFTR

0.800

CausalMutation

CLINVAR

CFTR gene variant for patients with congenital absence of vas deferens.

7573058

1995

dbSNP:

rs201124247

CFTR

0.800

CausalMutation

CLINVAR

Mutations in the SPINK1 gene in idiopathic pancreatitis Italian patients.

12825076

2003

dbSNP:

rs201124247

CFTR

0.800

CausalMutation

CLINVAR

CFTR and cationic trypsinogen mutations in idiopathic pancreatitis and neonatal hypertrypsinemia.

12120234

2001

dbSNP:

rs201124247

CFTR

0.800

CausalMutation

CLINVAR

Phenotypic discordance in three siblings affected by atypical cystic fibrosis with the F508del/D614G genotype.

16478680

2006

dbSNP:

rs201124247

CFTR

0.800

CausalMutation

CLINVAR

Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium.

9259197

1997

dbSNP:

rs201124247

CFTR

0.800

CausalMutation

CLINVAR

Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations.

7472820

1995

dbSNP:

rs201124247

CFTR

0.800

CausalMutation

CLINVAR

Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations.

9003508

1997

dbSNP:

rs201124247

CFTR

0.800

CausalMutation

CLINVAR

Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.

8406518

1993

dbSNP:

rs201124247

CFTR

0.800

CausalMutation

CLINVAR

Six possibly CF-related mutations were detected: L997F and 3878delG were found in two of the subjects already carrying another mutation, S1235R and L997F in one patient carrying the 5T, and L997F and D614G in the two patients with borderline sweat chloride.

11462247

2001

dbSNP:

rs201124247

CFTR

0.800

CausalMutation

CLINVAR

Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis.

12454843

2002

dbSNP:

rs201124247

CFTR

0.800

CausalMutation

CLINVAR

Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.

15084222

2004

dbSNP:

rs201124247

CFTR

0.800

CausalMutation

CLINVAR

The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.

26014425

2016

dbSNP:

rs201124247

CFTR

0.800

CausalMutation

CLINVAR

A conserved region of the R domain of cystic fibrosis transmembrane conductance regulator is important in processing and function.

9822639

1998

dbSNP:

rs201124247

CFTR

0.800

CausalMutation

CLINVAR

Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens.

9239681

1996

dbSNP:

rs201124247

CFTR

0.800

CausalMutation

CLINVAR

Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.

9736778

1998

dbSNP:

rs201124247

CFTR

0.800

CausalMutation

CLINVAR

A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.

11504857

2001

dbSNP:

rs201124247

CFTR

0.800

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:

rs201124247

CFTR

0.800

GeneticVariation

UNIPROT

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

7543567

1995

dbSNP:

rs201124247

CFTR

0.800

GeneticVariation

UNIPROT

Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis.

25431289

2014

dbSNP:

rs201124247

CFTR

0.800

GeneticVariation

UNIPROT

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

16822950

2007

dbSNP:

rs201124247

CFTR

0.800

GeneticVariation

UNIPROT

Standards and guidelines for CFTR mutation testing.

12394352

2003

dbSNP:

rs201124247

CFTR

0.800

GeneticVariation

UNIPROT

Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT).

1710600

1991

dbSNP:

rs201124247

CFTR

0.800

GeneticVariation

UNIPROT

Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP.

1284529

1992