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GENE - TERM ANNOTATION REPORT

RGD ID: 1317121
Species: Homo sapiens
RGD Object: Gene
Symbol: NSD1
Name: nuclear receptor binding SET domain protein 1
Acc ID: HP:0000938
Term: Osteopenia
Definition: Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Definition Source(s): https://orcid.org/0000-0002-0736-9199, PMID:21234807
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)
NSD1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteopenia

PMID:12464997 PMID:12807965 PMID:15942875 PMID:17565729 PMID:18414213 PMID:21196496 PMID:24412544 PMID:25741868 PMID:26690673 PMID:27834868 PMID:28492532 PMID:30719864
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