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GENE - TERM ANNOTATION REPORT

RGD ID: 3307
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pfkfb1
Name: 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1
Acc ID: DOID:0080506
Term: Cornelia de Lange syndrome 2
Definition: A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/22106055 "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)
Pfkfb1 ISOPFKFB1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndromePMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 PMID:31334757 PMID:31602316
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