KRT8, keratin 8, 3856

N. diseases: 166; N. variants: 16
Disease: Cirrhosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs571462252
rs571462252
Entrez Id: 3856
Gene Symbol: KRT8
KRT8
CUI: C1623038
Disease:
Cirrhosis 		0.010 GeneticVariation 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
dbSNP: rs11554495
rs11554495
Entrez Id: 3856
Gene Symbol: KRT8
KRT8
CUI: C1623038
Disease:
Cirrhosis 		0.010 GeneticVariation BEFREE Of the 349 blood bank control samples, only one contained the Tyr-53 --> His and one the Gly-61 --> Cys K8 mutations (P < 0.004 when comparing cirrhosis versus control groups). 12724528 2003
dbSNP: rs57749775
rs57749775
Entrez Id: 3856
Gene Symbol: KRT8
KRT8
CUI: C1623038
Disease:
Cirrhosis 		0.010 GeneticVariation BEFREE Of the 349 blood bank control samples, only one contained the Tyr-53 --> His and one the Gly-61 --> Cys K8 mutations (P < 0.004 when comparing cirrhosis versus control groups). 12724528 2003