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GENE - TERM ANNOTATION REPORT

RGD ID: 628857
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pank4
Name: pantothenate kinase 4
Acc ID: DOID:0060481
Term: Goldberg-Shprintzen syndrome
Definition: A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has_material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Goldberg-Shprintzen_syndrome "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/15883926 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/23427148 "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)
Pank4 ISOPANK4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Shprintzen-Goldberg syndromePMID:23892090 PMID:28492532 PMID:31602316
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