Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

RGD ID: 1563513
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Slc10a3
Name: solute carrier family 10, member 3
Acc ID: DOID:0050800
Term: cerebral creatine deficiency syndrome 1
Definition: A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17603797 "DO" "DO", https://www.omim.org/entry/300352 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Go Back to source page   Continue to Ontology report