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GENE - TERM ANNOTATION REPORT

RGD ID: 2718
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Gnb1
Name: G protein subunit beta 1
Acc ID: DOID:0050802
Term: Ehlers-Danlos syndrome spondylodysplastic type 2
Definition: An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene. (DO)
Definition Source(s): http://www.nlm.nih.gov/medlineplus/ency/article/001468.htm "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)
Gnb1 ISOGNB1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 PMID:9683594
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