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

GeneticVariation

UNIPROT

Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.

24014130

2014

dbSNP:

rs201124247

CFTR

0.800

GeneticVariation

UNIPROT

ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

19888064

2009

dbSNP:

rs201124247

CFTR

0.800

GeneticVariation

UNIPROT

Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond.

19914443

2009

dbSNP:

rs201124247

CFTR

0.800

GeneticVariation

UNIPROT

ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.

21422883

2011

dbSNP:

rs201124247

CFTR

0.800

GeneticVariation

UNIPROT

Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax.

20675678

2010

dbSNP:

rs201124247

CFTR

0.800

GeneticVariation

UNIPROT

Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health.

17761616

2007

dbSNP:

rs201124247

CFTR

0.800

GeneticVariation

UNIPROT

Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.

25981758

2015

dbSNP:

rs201124247

CFTR

0.800

GeneticVariation

UNIPROT

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

9554753

1998

dbSNP:

rs201124247

CFTR

0.800

GeneticVariation

UNIPROT

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

9452073

1998

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