Annotation Detail
Information
- Associated Genes
- CPS1
- Associated Variants
-
CPS1 MUTATION
CPS1 MUTATION
CPS1 p.Thr1406Asn (p.T1406N) ( ENST00000233072.10, ENST00000430249.7, ENST00000451903.3, ENST00000673510.1, ENST00000673630.1, ENST00000673711.1 )
CPS1 p.Thr1406Asn (p.T1406N) ( ENST00000233072.10, ENST00000430249.7, ENST00000451903.3, ENST00000673510.1, ENST00000673630.1, ENST00000673711.1 ) - Associated Disease
- Fibrinogen Adverse Event
- Source Database
- DisGeNET
- Description
- [A genome-wide survey of the human genome identifies novel loci related to common chronic inflammatory diseases as genetic determinants of fibrinogen levels, in addition to loci that relate to the inflammatory cascade, the urea cycle, and the fibrinogen ge]
- Pubmed
- 20031577
- Original source reporting the Gene Disease association
- GAD
- DisGENET score for the Gene Disease association
- 0.122367031978602
- Year of publication
- 2009
Drugs