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GENE - TERM ANNOTATION REPORT

RGD ID: 1584964
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Spaca5
Name: sperm acrosome associated 5
Acc ID: DOID:0112128
Term: X-linked severe congenital neutropenia
Definition: A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/11242115/ "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)
Spaca5 ISOSPACA5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: X-linked severe congenital neutropeniaPMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 PMID:8530058 PMID:9476131
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