Annotation Detail
Information
- Associated Genes
- CPS1
- Associated Variants
-
CPS1 MUTATION
CPS1 MUTATION - Associated Disease
- Mental Retardation
- Source Database
- DisGeNET
- Description
- Carbamoyl phosphate synthetase 1 (CPS1) deficiency (CPS1D) is an inborn error of the urea cycle having autosomal (2q34) recessive inheritance that can cause hyperammonemia and neonatal death or mental retardation.
- Pubmed
- 26059772
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs