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GENE - TERM ANNOTATION REPORT

RGD ID: 1602048
Species: Homo sapiens
RGD Object: Gene
Symbol: ACTL9
Name: actin like 9
Acc ID: DOID:0112279
Term: spermatogenic failure 53
Definition: A spermatogenic failure characterized by infertility resulting from absence of oocyte activation and ultrastructural abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL9 gene on chromosome 19p13.2. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/33626338/ "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)
ACTL9 IAGP 7240710OMIM  
ACTL9 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spermatogenic failure 53PMID:33626338
ACTL9 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spermatogenic failure 53PMID:25741868
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