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GENE - TERM ANNOTATION REPORT

RGD ID: 1549750
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pqbp1
Name: polyglutamine binding protein 1
Acc ID: DOID:0070265
Term: congenital disorder of glycosylation type IIm
Definition: A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/23561849 "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)
Pqbp1 ISOPQBP1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDGPMID:28492532
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