CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 PosttranslationalModification disease BEFREE Thus, promoter hypermethylation of the CFTR gene might be a novel diagnostic marker of breast cancer. 31721358 2020
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 Biomarker disease BEFREE We demonstrate that the knowledge of the chromatin 3D organization may help understand the mechanisms of gene expression regulation of genes involved in the development of human diseases, such as CFTR (responsible for cystic fibrosis) or IGFBP3 (associated with breast cancer pathogenesis). 26328275 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 GeneticVariation disease BEFREE We have evaluated the relationship between the deltaF508 CFTR mutation and the risk of breast cancer before the age of 40. 9761117 1998
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 Biomarker disease BEFREE The results suggest that both CFTR heterozygosity and homozygosity suppress breast cancer growth and that elevated extracellular ATP can account for this phenomenon. 8616723 1996