KRT8, keratin 8, 3856

N. diseases: 166; N. variants: 16
Disease: Cirrhosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		0.120 GeneticVariation disease BEFREE Mutation of the cytoskeletal intermediate filament proteins keratin 8 and keratin 18 (K8/K18) is associated with cirrhosis in humans, whereas transgenic mice that overexpress K18 Arg89-->Cys (R89C) have significant predisposition to liver injury. 15726665 2005
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		0.120 GeneticVariation disease BEFREE Keratin 8 and 18 (K8K18) mutations are found in patients with cryptogenic cirrhosis, but the role of keratin mutations in noncryptogenic cirrhosis and the incidence of keratin mutations in the general population are not known. 12724528 2003
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		0.120 Biomarker disease HPO