KRT8, keratin 8, 3856

N. diseases: 166; N. variants: 16
Disease: Cystic Fibrosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.030 GeneticVariation disease BEFREE The intermediate filament protein keratin 8 (K8) interacts with the nucleotide-binding domain 1 (NBD1) of the cystic fibrosis (CF) transmembrane regulator (CFTR) with phenylalanine 508 deletion (ΔF508), and this interaction hampers the biogenesis of functional ΔF508-CFTR and its insertion into the plasma membrane. 27870250 2017
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.030 GeneticVariation disease BEFREE Genetic deletion of keratin 8 corrects the altered bone formation and osteopenia in a mouse model of cystic fibrosis. 26769674 2016
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.030 Biomarker disease BEFREE KRT8, but not KRT18, showed an association with CF disease severity (Pbest=0.00131; Pcorr=0.0185) and CFTR mediated residual chloride secretion (Pbest=0.0004; Pcorr=0.0069). 21548936 2011