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GENE - TERM ANNOTATION REPORT

RGD ID: 14155260
Species: Sus scrofa
RGD Object: Gene
Symbol: PLPBP
Name: pyridoxal phosphate binding protein
Acc ID: DOID:0090083
Term: hypogonadotropic hypogonadism 2 with or without anosmia
Definition: A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12627230 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/20696889 "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)
PLPBP ISOPLPBP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmiaPMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 PMID:8948562
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