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GENE - TERM ANNOTATION REPORT

RGD ID: 620684
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Synrg
Name: synergin, gamma
Acc ID: DOID:0070432
Term: hyperphosphatasia with impaired intellectual development syndrome 5
Definition: A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGW gene on chromosome 17q12. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/27626616/ "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)
Synrg ISOSYNRG (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 PMID:9398836
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