Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

RGD ID: 3704
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Slc2a1
Name: solute carrier family 2 member 1
Acc ID: DOID:0090050
Term: dystonia 27
Definition: A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/26004199 "DO" "DO", https://www.omim.org/entry/616411 "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)
Go Back to source page   Continue to Ontology report