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GENE - TERM ANNOTATION REPORT

RGD ID: 8870052
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Snap29
Name: synaptosome associated protein 29
Acc ID: DOID:0060787
Term: hypomyelinating leukodystrophy 2
Definition: A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15192806 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/18094336 "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)
Snap29 ISOSNAP29 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2PMID:15968592 PMID:21073448 PMID:25356970 PMID:25741868 PMID:28492532 PMID:31748968 PMID:33977139
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