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GENE - TERM ANNOTATION REPORT

RGD ID: 1303214
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Emc10
Name: ER membrane protein complex subunit 10
Acc ID: DOID:9007229
Term: Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures
Definition: An autosomal recessive disorder characterized by global developmental delay apparent in early childhood. Caused by homozygous mutation in the EMC10 gene on chromosome 19q13. (OMIM)
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)
Emc10 ISOEMC10 (Homo sapiens)7240710OMIM  
Emc10 ISOEMC10 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and variable seizuresPMID:25741868 PMID:25741905 PMID:32869858 PMID:33531666 PMID:35684946
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