CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Cystic Fibrosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113857788
rs113857788
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		T 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
rs113857788
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		T 0.700 CausalMutation CLINVAR Targeted next-generation sequencing effectively analyzed the cystic fibrosis transmembrane conductance regulator gene in pancreatitis. 25492507 2015
dbSNP: rs113857788
rs113857788
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		T 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
rs113857788
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		T 0.700 CausalMutation CLINVAR Mutation analysis of SPINK1 and CFTR gene in Korean patients with alcoholic chronic pancreatitis. 16187186 2005
dbSNP: rs113857788
rs113857788
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		T 0.700 CausalMutation CLINVAR Genetic evidence for CFTR dysfunction in Japanese: background for chronic pancreatitis. 15121783 2004
dbSNP: rs113857788
rs113857788
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		T 0.700 CausalMutation CLINVAR A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases. 12952861 2003
dbSNP: rs113857788
rs113857788
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		T 0.700 CausalMutation CLINVAR Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. 9272157 1997
dbSNP: rs113857788
rs113857788
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		T 0.700 CausalMutation CLINVAR Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens. 9239681 1996
dbSNP: rs113857788
rs113857788
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		C 0.700 CausalMutation CLINVAR