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GENE - TERM ANNOTATION REPORT

RGD ID: 1320083
Species: Mus musculus
RGD Object: Gene
Symbol: Tlx2
Name: T cell leukemia, homeobox 2
Acc ID: DOID:0070254
Term: congenital disorder of glycosylation type IIb
Definition: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10788335 "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)
Tlx2 ISOTLX2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital disorder of glycosylation type 2BPMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 PMID:28492532
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