DisGeNET - a database of gene-disease associations

Cystic Fibrosis, C0010674

Variant: rs121908803 ×

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:

rs121908803

CFTR

0.820

GeneticVariation

UNIPROT

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

1284529

1992

dbSNP:

rs121908803

CFTR

0.820

GeneticVariation

UNIPROT

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.

1695717

1990

dbSNP:

rs121908803

CFTR

0.820

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:

rs121908803

CFTR

0.820

GeneticVariation

UNIPROT

A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.

7524909

1994

dbSNP:

rs121908803

CFTR

0.820

GeneticVariation

UNIPROT

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

7543567

1995

dbSNP:

rs121908803

CFTR

0.820

GeneticVariation

UNIPROT

Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene.

7683628

1993

dbSNP:

rs121908803

CFTR

0.820

GeneticVariation

UNIPROT

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

8406518

1993

dbSNP:

rs121908803

CFTR

0.820

GeneticVariation

UNIPROT

Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.

8522333

1995

dbSNP:

rs121908803

CFTR

0.820

GeneticVariation

CLINVAR

These residues are conserved across species, and mutations of two (P99L and P205S) are associated with cystic fibrosis.

8663008

1996

dbSNP:

rs121908803

CFTR

0.820

GeneticVariation

BEFREE

These residues are conserved across species, and mutations of two (P99L and P205S) are associated with cystic fibrosis.

8663008

1996

dbSNP:

rs121908803

CFTR

0.820

CausalMutation

CLINVAR

These residues are conserved across species, and mutations of two (P99L and P205S) are associated with cystic fibrosis.

8663008

1996

dbSNP:

rs121908803

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:

rs121908803

CFTR

0.820

GeneticVariation

UNIPROT

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

8829633

1996

dbSNP:

rs121908803

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:

rs121908803

CFTR

0.820

GeneticVariation

UNIPROT

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

9452054

1998

dbSNP:

rs121908803

CFTR

0.820

GeneticVariation

UNIPROT

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

9452073

1998

dbSNP:

rs121908803

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:

rs121908803

CFTR

0.820

CausalMutation

CLINVAR

Regulation of Cl-/ HCO3- exchange by cystic fibrosis transmembrane conductance regulator expressed in NIH 3T3 and HEK 293 cells.

9920885

1999

dbSNP:

rs121908803

CFTR

0.820

GeneticVariation

CLINVAR

Dynamic association of proteasomal machinery with the centrosome.

10225950

1999

dbSNP:

rs121908803

CFTR

0.820

GeneticVariation

UNIPROT

Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.

11280952

2001

dbSNP:

rs121908803

CFTR

0.820

GeneticVariation

CLINVAR

A protein sequence that can encode native structure by disfavoring alternate conformations.

11938353

2002

dbSNP:

rs121908803

CFTR

0.820

GeneticVariation

UNIPROT

Variant cystic fibrosis phenotypes in the absence of CFTR mutations.

12167682

2002

dbSNP:

rs121908803

CFTR

0.820

GeneticVariation

UNIPROT

Standards and guidelines for CFTR mutation testing.

12394352

2003

dbSNP:

rs121908803

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:

rs121908803

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