DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variant: rs121909011 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121909011

CFTR

CUI:	C0010674
Disease:	Cystic Fibrosis

Cystic Fibrosis

0.850

GeneticVariation

UNIPROT

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

1695717

1990

dbSNP:

rs121909011

CFTR

CUI:	C0010674
Disease:	Cystic Fibrosis

Cystic Fibrosis

0.850

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:

rs121909011

CFTR

CUI:	C0010674
Disease:	Cystic Fibrosis

Cystic Fibrosis

0.850

GeneticVariation

UNIPROT

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

1284529

1992

dbSNP:

rs121909011

CFTR

CUI:	C0010674
Disease:	Cystic Fibrosis

Cystic Fibrosis

0.850

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:

rs121909011

CFTR

CUI:	C0010674
Disease:	Cystic Fibrosis

Cystic Fibrosis

0.850

GeneticVariation

UNIPROT

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

8406518

1993

dbSNP:

rs121909011

CFTR

CUI:	C0010674
Disease:	Cystic Fibrosis

Cystic Fibrosis

0.850

GeneticVariation

UNIPROT

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

7524909

1994

dbSNP:

rs121909011

CFTR

CUI:	C0010674
Disease:	Cystic Fibrosis

Cystic Fibrosis

0.850

GeneticVariation

UNIPROT

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

7543567

1995

dbSNP:

rs121909011

CFTR

CUI:	C0010674
Disease:	Cystic Fibrosis

Cystic Fibrosis

0.850

GeneticVariation

UNIPROT

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

8522333

1995

dbSNP:

rs121909011

CFTR

CUI:	C0403814
Disease:	Congenital bilateral aplasia of vas deferens

Congenital bilateral aplasia of vas deferens

0.800

GeneticVariation

UNIPROT

Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.

7529962

1995

dbSNP:

rs121909011

CFTR

CUI:	C0403814
Disease:	Congenital bilateral aplasia of vas deferens

Congenital bilateral aplasia of vas deferens

0.800

GeneticVariation

UNIPROT

Structural analysis of CFTR gene in congenital bilateral absence of vas deferens.

7539342

1995

dbSNP:

rs121909011

CFTR

CUI:	C0010674
Disease:	Cystic Fibrosis

Cystic Fibrosis

0.850

GeneticVariation

UNIPROT

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

8829633

1996

dbSNP:

rs121909011

CFTR

CUI:	C0010674
Disease:	Cystic Fibrosis

Cystic Fibrosis

0.850

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:

rs121909011

CFTR

CUI:	C0010674
Disease:	Cystic Fibrosis

Cystic Fibrosis

0.850

GeneticVariation

UNIPROT

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

8723693

1996

dbSNP:

rs121909011

CFTR

CUI:	C0403814
Disease:	Congenital bilateral aplasia of vas deferens

Congenital bilateral aplasia of vas deferens

0.800

GeneticVariation

UNIPROT

Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).

9067761

1997

dbSNP:

rs121909011

CFTR

CUI:	C0010674
Disease:	Cystic Fibrosis

Cystic Fibrosis

0.850

GeneticVariation

UNIPROT

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

9554753

1998

dbSNP:

rs121909011

CFTR

CUI:	C0010674
Disease:	Cystic Fibrosis

Cystic Fibrosis

0.850

GeneticVariation

UNIPROT

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

9452073

1998

dbSNP:

rs121909011

CFTR

CUI:	C0010674
Disease:	Cystic Fibrosis

Cystic Fibrosis

0.850

GeneticVariation

UNIPROT

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

9452054

1998

dbSNP:

rs121909011

CFTR

CUI:	C0403814
Disease:	Congenital bilateral aplasia of vas deferens

Congenital bilateral aplasia of vas deferens

0.800

GeneticVariation

UNIPROT

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

9736778

1998

dbSNP:

rs121909011

CFTR

CUI:	C0403814
Disease:	Congenital bilateral aplasia of vas deferens

Congenital bilateral aplasia of vas deferens

0.800

GeneticVariation

UNIPROT

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

dbSNP:

rs121909011

CFTR

CUI:	C0010674
Disease:	Cystic Fibrosis

Cystic Fibrosis

0.850

GeneticVariation

UNIPROT

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

11280952

2001

dbSNP:

rs121909011

CFTR

CUI:	C0010674
Disease:	Cystic Fibrosis

Cystic Fibrosis

0.850

GeneticVariation

UNIPROT

Variant cystic fibrosis phenotypes in the absence of CFTR mutations.

12167682

2002

dbSNP:

rs121909011

CFTR

CUI:	C0010674
Disease:	Cystic Fibrosis

Cystic Fibrosis

0.850

GeneticVariation

UNIPROT

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

12529365

2003

dbSNP:

rs121909011

CFTR

CUI:	C0010674
Disease:	Cystic Fibrosis

Cystic Fibrosis

0.850

GeneticVariation

UNIPROT

Standards and guidelines for CFTR mutation testing.

12394352

2003

dbSNP:

rs121909011

CFTR

CUI:	C0010674
Disease:	Cystic Fibrosis

Cystic Fibrosis

0.850

GeneticVariation

UNIPROT

Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

15789152

2005

dbSNP:

rs121909011

CFTR

CUI:	C0010674
Disease:	Cystic Fibrosis

Cystic Fibrosis

0.850

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