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GENE - TERM ANNOTATION REPORT

RGD ID: 1318916
Species: Homo sapiens
RGD Object: Gene
Symbol: DHX30
Name: DExH-box helicase 30
Acc ID: DOID:9008086
Term: Developmental Disabilities
Definition: Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)
Definition Source(s): MESH:D002658
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)
DHX30 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Global developmental delayPMID:25741868 PMID:28327206 PMID:29100085
DHX30 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Global developmental delayPMID:28327206 PMID:29100085 PMID:32581362
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