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GENE - TERM ANNOTATION REPORT

RGD ID: 18728214
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: EHMT1
Name: euchromatic histone lysine methyltransferase 1
Acc ID: DOID:9005781
Term: Adams-Oliver Syndrome 5
Definition: A rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). (OMIM)
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)
EHMT1 ISOEHMT1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Adams-Oliver syndrome 5PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532
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