Annotation Detail
Information
- Associated Genes
- CPS1
- Associated Variants
-
CPS1 MUTATION
CPS1 MUTATION - Associated Disease
- Carbamoyl-Phosphate Synthase I Deficiency Disease
- Source Database
- DisGeNET
- Description
- The presence of carbamoyl phosphate synthase I (CPS1), a target of SIRT5, was investigated by immunohistochemistry and follicular-fluid ammonium concentrations determined via microfluorometry.
- Pubmed
- 23978077
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 7
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.561085767488321
Drugs