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GENE - TERM ANNOTATION REPORT

RGD ID: 1318492
Species: Mus musculus
RGD Object: Gene
Symbol: Slc35a3
Name: solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3
Acc ID: DOID:9008858
Term: Arthrogryposis, Impaired Intellectual Development, and Seizures
Definition: null
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)
Slc35a3 ISOSLC35A3 (Homo sapiens)7240710OMIM  
Slc35a3 ISOSLC35A3 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Slc35a3 ISOSLC35A3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndromePMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 PMID:22406018 PMID:24031089 PMID:25741868 PMID:25954003 PMID:27618451 PMID:28328131 PMID:28490743 PMID:28492532 PMID:28777481 PMID:33416188 PMID:9536098
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