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GENE - TERM ANNOTATION REPORT

RGD ID: 32731473
Species: Pan paniscus
RGD Object: Gene
Symbol: PAM16
Name: presequence translocase associated motor 16
Acc ID: DOID:0112304
Term: spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
Definition: A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the PAM16 gene on chromosome 16p13.3. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/24786642/ "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)
PAM16 ISOPAM16 (Homo sapiens)7240710OMIM  
PAM16 ISOPAM16 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki typePMID:24786642 PMID:27354339 PMID:28492532
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