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GENE - TERM ANNOTATION REPORT

RGD ID: 1311968
Species: Rattus norvegicus
RGD Object: Gene
Symbol: B3gat3
Name: beta-1,3-glucuronyltransferase 3
Acc ID: DOID:0080575
Term: Larsen-like syndrome B3GAT3 type
Definition: A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4654953/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/25893793 "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)
B3gat3 ISOB3GAT3 (Homo sapiens)7240710OMIM  
B3gat3 ISOB3GAT3 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
B3gat3 ISOB3GAT3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type | ClinVar Annotator: match by term: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS | ClinVar Annotator: match by term: Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defectsPMID:16199547 PMID:17576681 PMID:20335603 PMID:21763480 PMID:24668659 PMID:25326635 PMID:25741868 PMID:25893793 PMID:26633542 PMID:26754439 PMID:27271787 PMID:27871226 PMID:28229453 PMID:28492532 PMID:31196143 PMID:31438591 PMID:31988067 PMID:9536098
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