C9orf53

General Information

Full gene name:chromosome 9 open reading frame 53
Entrez Gene ID:51198
Location:9p21.3
Synonyms:bA149I2.3
Type:miscRNA

User SNPs

SNPs given by the user that are near or inside this gene:

SNP Distance (bp) Direction
rs10811661 166341 downstream

NCBI Summary

None available.

OMIM

No OMIM data available for this gene.

NCBI Phenotypes

No phenotypes found linked to this gene.

Gene Ontology

No GO terms found linked to this gene.

KEGG Pathways

No pathways found linked to this gene.

GeneRIFs

  • The C allele of rs1333049 in the vascular disease susceptibility locus is associated with vascular dementia and late-onset Alzheimer’s disease, independent of traditional risk factors. [PMID 19664850]
  • Six sequence variants on chromosome 9p21.3 are associated with a positive family history of myocardial infarction. [PMID 21385355]
  • A chromosome 9p21.3 variant predicts the risk of myocardial infarction among white men. [PMID 21406102]
  • Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) [PMID 21048031]

PubMed Articles

Recent articles:

  • Emanuele E et al. “Chromosome 9p21.3 genotype is associated with vascular dementia and Alzheimer’s disease.” Neurobiol Aging. 2011 Jul;32(7):1231-5. PMID 19664850
  • Shiffman D et al. “The contribution of a 9p21.3 variant, a KIF6 variant, and C-reactive protein to predicting risk of myocardial infarction in a prospective study.” BMC Cardiovasc Disord. 2011 Mar 15;11:10. PMID 21406102
  • Scheffold T et al. “Six sequence variants on chromosome 9p21.3 are associated with a positive family history of myocardial infarction: a multicenter registry.” BMC Cardiovasc Disord. 2011 Mar 7;11:9. PMID 21385355
  • Casabonne D et al. “Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.” Haematologica. 2011 Feb;96(2):323-7. PMID 21048031
  • Olsen JV et al. “Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.” Cell. 2006 Nov 3;127(3):635-48. PMID 17081983
  • Humphray SJ et al. “DNA sequence and analysis of human chromosome 9.” Nature. 2004 May 27;429(6990):369-74. PMID 15164053

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