CFTR, CF transmembrane conductance regulator, 1080
N. diseases: 476; N. variants: 673
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Association of cystic fibrosis transmembrane-conductance regulator gene mutation with negative outcome of intracytoplasmic sperm injection pregnancy in cases of congenital bilateral absence of vas deferens. | 24559724 | 2014 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. | 23974870 | 2013 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Potential role for the common cystic fibrosis DeltaF508 mutation in Crohn's disease. | 17206681 | 2007 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. | 15371902 | 2005 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Rescuing cystic fibrosis transmembrane conductance regulator (CFTR)-processing mutants by transcomplementation. | 15141088 | 2004 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Role of Cftr genotype in the response to chronic Pseudomonas aeruginosa lung infection in mice. | 15246977 | 2004 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. | 11280952 | 2001 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Identification of cystic fibrosis mutations in Oman. | 10782933 | 2000 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | delta F508 in cystic fibrosis: willing but not able. | 9135274 | 1997 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | CFTR! | 1381146 | 1992 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Identification of the cystic fibrosis gene: genetic analysis. | 2570460 | 1989 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. | 2475911 | 1989 |