KRT8, keratin 8, 3856

N. diseases: 166; N. variants: 16
Disease: Inflammatory Bowel Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.050 GeneticVariation group BEFREE Intestinal cell barrier function in vitro is severely compromised by keratin 8 and 18 mutations identified in patients with inflammatory bowel disease. 24915158 2014
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.050 GeneticVariation group BEFREE A novel but rare keratin-8 Arg341-to-Cys is identified in IBD patients. 17509943 2007
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.050 GeneticVariation group BEFREE Keratins 8 and 18 (KRT8 and KRT18 genes; K8 and K18 proteins) variants are risk factors for developing end-stage liver disease and may be associated with inflammatory bowel disease and chronic pancreatitis. 16575832 2006
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.050 GeneticVariation group BEFREE Human keratin 8 mutations that disturb filament assembly observed in inflammatory bowel disease patients. 15090596 2004
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.050 GeneticVariation group LHGDN Human keratin 8 mutations that disturb filament assembly observed in inflammatory bowel disease patients. 15090596 2004
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.050 GeneticVariation group BEFREE We investigated if these keratin 8 missense mutations were associated with inflammatory bowel disease. 15248378 2004