| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Congenital bilateral aplasia of vas deferens
|
0.800 | GeneticVariation | UNIPROT | Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. | 17329263 | 2007 | |||||
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 | |||||
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 | |||||
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 | |||||
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 | |||||
Congenital bilateral aplasia of vas deferens
|
0.800 | GeneticVariation | UNIPROT | Structural analysis of CFTR gene in congenital bilateral absence of vas deferens. | 7539342 | 1995 | |||||
Congenital bilateral aplasia of vas deferens
|
0.800 | CausalMutation | CLINVAR | ||||||||
Congenital bilateral aplasia of vas deferens
|
0.800 | GeneticVariation | CLINVAR | ||||||||
Cystic Fibrosis
|
0.710 | GeneticVariation | CLINVAR | On the basis of the clinical features presented by the eleven patients, we postulate that the p.Gly622Asp might be associated with a wide spectrum of phenotypes including classical cystic fibrosis. | 25443471 | 2015 | |||||
Cystic Fibrosis
|
0.710 | GeneticVariation | BEFREE | We report molecular and clinical analyses in eleven unrelated patients with CF or CFTR-RD with compound heterozygosity for the p.Gly622Asp mutation. | 25443471 | 2015 | |||||
Cystic Fibrosis
|
0.710 | GeneticVariation | CLINVAR | C terminus of nucleotide binding domain 1 contains critical features for cystic fibrosis transmembrane conductance regulator trafficking and activation. | 20435887 | 2010 | |||||
Cystic Fibrosis
|
0.710 | GeneticVariation | CLINVAR | To study the mechanism of action of several pharmacological chaperones benzo[c]quinolizinium (MPB), we analyzed their effects on two CF mutations; F508del-CFTR and G622D-CFTR. | 18230692 | 2008 | |||||
Cystic Fibrosis
|
0.710 | CausalMutation | CLINVAR | ||||||||
Hereditary pancreatitis
|
0.700 | CausalMutation | CLINVAR | ||||||||
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
|
0.700 | CausalMutation | CLINVAR | ||||||||
Classical cystic fibrosis
|
0.010 | GeneticVariation | BEFREE | On the basis of the clinical features presented by the eleven patients, we postulate that the p.Gly622Asp might be associated with a wide spectrum of phenotypes including classical cystic fibrosis. | 25443471 | 2015 |