KRT8, keratin 8, 3856

N. diseases: 166; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.070 GeneticVariation group BEFREE Liver disease-associated keratin 8 and 18 mutations modulate keratin acetylation and methylation. 31199680 2019
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.070 GeneticVariation group BEFREE Comparison of p38 MAPK binding with keratin variants associated with liver disease showed that the K18 I150V variant dramatically reduced binding with p38, which is similar to the effect of the p38 docking-deficient mutation on K8. 31427430 2019
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.070 GeneticVariation group BEFREE The purpose of the present paper was therefore to determine the prevalence of cytokeratin 8 (G61C) and cytokeratin 18 mutations (Y53H) in patients with liver disease. 16911694 2006
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.070 GeneticVariation group LHGDN Keratin 8 and 18 variants in 17 of 467 liver disease explants and 2 of 349 blood bank controls were previously reported in 5 analyzed exonic regions. 16143128 2005
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.070 GeneticVariation group BEFREE Keratin 8 and 18 variants in 17 of 467 liver disease explants and 2 of 349 blood bank controls were previously reported in 5 analyzed exonic regions. 16143128 2005
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.070 Biomarker group BEFREE Keratin 8 and 18 hyperphosphorylation is a marker of progression of human liver disease. 15368451 2004
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.070 GeneticVariation group LHGDN Keratin 8 and 18 mutations are risk factors for developing liver disease of multiple etiologies. 12724528 2003
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.070 GeneticVariation group BEFREE Keratin 8 and 18 mutations are risk factors for developing liver disease of multiple etiologies. 12724528 2003
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.070 GeneticVariation group BEFREE Of the 55 patients with cryptogenic liver disease, 3 had glycine-to-cysteine mutations at position 61 (a highly conserved glycine) of keratin 8, and 2 had tyrosine-to-histidine mutations at position 53 of keratin 8. 11372009 2001