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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:1933
Term: Rubinstein-Taybi syndrome
Definition: A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Rubinstein%E2%80%93Taybi_syndrome "DO" "DO", http://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome "DO" "DO", https://research.nhgri.nih.gov/atlas/condition/rubinstein-taybi-syndrome "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)8554872ClinVarClinVar Annotator: match by term: Rubinstein-Taybi syndromePMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532
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