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GENE - TERM ANNOTATION REPORT

RGD ID: 1353089
Species: Homo sapiens
RGD Object: Gene
Symbol: NPC2
Name: NPC intracellular cholesterol transporter 2
Acc ID: HP:0000252
Term: Microcephaly
Definition: Head circumference below 2 standard deviations below the mean for age and gender.
Definition Source(s): PMID:15806441, PMID:19125436, PMID:25465325, PMID:9683597
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)
NPC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Microcephaly

PMID:12955717 PMID:15937921 PMID:25558065 PMID:25741868 PMID:25764212 PMID:28492532
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