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GENE - TERM ANNOTATION REPORT

RGD ID: 1350171
Species: Homo sapiens
RGD Object: Gene
Symbol: PLXNB3
Name: plexin B3
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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
PLXNB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Creatine transporter deficiencyPMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:18047645 PMID:22578097 PMID:22659343 PMID:23220634 PMID:26930212 PMID:28492532
PLXNB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Creatine transporter deficiencyPMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:9384614
PLXNB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Creatine transporter deficiencyPMID:18047645 PMID:22659343 PMID:28492532
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