DisGeNET - a database of gene-disease associations

CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1057517276

Entrez Id:	1080
Gene Symbol:	CFTR

CFTR

CUI:	C0010674
Disease:

Cystic Fibrosis

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1057517342

Entrez Id:	1080
Gene Symbol:	CFTR

CFTR

CUI:	C0010674
Disease:

Cystic Fibrosis

GTACA

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057517342

Entrez Id:	1080
Gene Symbol:	CFTR

CFTR

CUI:	C0010674
Disease:

Cystic Fibrosis

GTACA

0.700

GeneticVariation

CLINVAR

Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.

15858154

2005

dbSNP:

rs1057517404

Entrez Id:	1080
Gene Symbol:	CFTR

CFTR

CUI:	C0010674
Disease:

Cystic Fibrosis

GAA

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1060503164

Entrez Id:	1080
Gene Symbol:	CFTR

CFTR

CUI:	C0010674
Disease:

Cystic Fibrosis

0.700

GeneticVariation

CLINVAR

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

23974870

2013

dbSNP:

rs1060503164

Entrez Id:	1080
Gene Symbol:	CFTR

CFTR

CUI:	C0010674
Disease:

Cystic Fibrosis

0.700

GeneticVariation

CLINVAR

The phenotypic consequences of CFTR mutations.

12940920

2003

dbSNP:

rs1060503164

Entrez Id:	1080
Gene Symbol:	CFTR

CFTR

CUI:	C0010674
Disease:

Cystic Fibrosis

0.700

GeneticVariation

CLINVAR

The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing.

26708955

2016

dbSNP:

rs113857788

Entrez Id:	1080
Gene Symbol:	CFTR

CFTR

CUI:	C0010674
Disease:

Cystic Fibrosis

0.700

CausalMutation

CLINVAR

Mutation analysis of SPINK1 and CFTR gene in Korean patients with alcoholic chronic pancreatitis.

16187186

2005

dbSNP:

rs113857788

Entrez Id:	1080
Gene Symbol:	CFTR

CFTR

CUI:	C0010674
Disease:

Cystic Fibrosis

0.700

CausalMutation

CLINVAR

Genetic evidence for CFTR dysfunction in Japanese: background for chronic pancreatitis.

15121783

2004

dbSNP:

rs113857788

Entrez Id:	1080
Gene Symbol:	CFTR

CFTR

CUI:	C0010674
Disease:

Cystic Fibrosis

0.700

CausalMutation

CLINVAR

Targeted next-generation sequencing effectively analyzed the cystic fibrosis transmembrane conductance regulator gene in pancreatitis.

25492507

2015

dbSNP:

rs113857788

Entrez Id:	1080
Gene Symbol:	CFTR

CFTR

CUI:	C0010674
Disease:

Cystic Fibrosis

0.700

CausalMutation

CLINVAR

Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.

9272157

1997

dbSNP:

rs113857788

Entrez Id:	1080
Gene Symbol:	CFTR

CFTR

CUI:	C0010674
Disease:

Cystic Fibrosis

0.700

CausalMutation

CLINVAR

CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.

28603918

2017

dbSNP:

rs113857788

Entrez Id:	1080
Gene Symbol:	CFTR

CFTR

CUI:	C0010674
Disease:

Cystic Fibrosis

0.700

CausalMutation

CLINVAR

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

9239681

1996

dbSNP:

rs113857788

Entrez Id:	1080
Gene Symbol:	CFTR

CFTR

CUI:	C0010674
Disease:

Cystic Fibrosis

0.700

CausalMutation

CLINVAR

dbSNP:

rs113857788

Entrez Id:	1080
Gene Symbol:	CFTR

CFTR

CUI:	C0010674
Disease:

Cystic Fibrosis

0.700

CausalMutation

CLINVAR

Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Asians with chronic pulmonary disease: a pilot study.

16678503

2006

dbSNP:

rs113857788

Entrez Id:	1080
Gene Symbol:	CFTR

CFTR

CUI:	C0010674
Disease:

Cystic Fibrosis

0.700

CausalMutation

CLINVAR

A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases.

12952861

2003

dbSNP:

rs113857788

Entrez Id:	1080
Gene Symbol:	CFTR

CFTR

CUI:	C1865433
Disease:

VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF

0.700

GeneticVariation

CLINVAR

dbSNP:

rs113857788

Entrez Id:	1080
Gene Symbol:	CFTR

CFTR

CUI:	C0149521
Disease:

Pancreatitis, Chronic

0.010

GeneticVariation

BEFREE

A SPINK1 N34S was detected as a heterozygote in one (2.4%) patient with alcoholic chronic pancreatitis and a heterozygote CFTR Q1352H was detected in one other patient.

16187186

2005

dbSNP:

rs113857788

Entrez Id:	1080
Gene Symbol:	CFTR

CFTR

CUI:	C0376670
Disease:

Pancreatitis, Alcoholic

0.010

GeneticVariation

BEFREE

This study shows that SPINK1 N34S and CFTR Q1352H mutations are uncommon and do not play an important role in chronic alcoholic pancreatitis in Korea.

16187186

2005

dbSNP:

rs113857788

Entrez Id:	1080
Gene Symbol:	CFTR

CFTR

CUI:	C0024115
Disease:

Lung diseases

0.010

GeneticVariation

BEFREE

Q1352H appears to be strongly related to NTM lung disease susceptibility in the Korean population.

23514810

2013

dbSNP:

rs113993958

Entrez Id:	1080
Gene Symbol:	CFTR

CFTR

CUI:	C0010674
Disease:

Cystic Fibrosis

0.800

GeneticVariation

UNIPROT

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

15789152

2005

dbSNP:

rs113993958

Entrez Id:	1080
Gene Symbol:	CFTR

CFTR

CUI:	C0010674
Disease:

Cystic Fibrosis

0.800

GeneticVariation

CLINVAR

A haplotype framework for cystic fibrosis mutations in Iran.

16436643

2006

dbSNP:

rs113993958

Entrez Id:	1080
Gene Symbol:	CFTR

CFTR

CUI:	C0010674
Disease:

Cystic Fibrosis

0.800

GeneticVariation

UNIPROT

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

25981758

2015

dbSNP:

rs113993958

Entrez Id:	1080
Gene Symbol:	CFTR

CFTR

CUI:	C0010674
Disease:

Cystic Fibrosis

0.800

GeneticVariation

UNIPROT

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

11280952

2001

dbSNP:

rs113993958

Entrez Id:	1080
Gene Symbol:	CFTR

CFTR

CUI:	C0010674
Disease:

Cystic Fibrosis

0.800

GeneticVariation

CLINVAR

Disease-associated mutations in the extracytoplasmic loops of cystic fibrosis transmembrane conductance regulator do not impede biosynthetic processing but impair chloride channel stability.

11278813

2001