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GENE - TERM ANNOTATION REPORT

RGD ID: 1309214
Species: Rattus norvegicus
RGD Object: Gene
Symbol: B4galt7
Name: beta-1,4-galactosyltransferase 7
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/, https://www.ncbi.nlm.nih.gov/pubmed/25893793
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)
B4galt7 ISORGD:13543258554872ClinVarClinVar Annotator: match by term: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS

PMID:1221956, PMID:15211654, PMID:1640425, PMID:18158310, PMID:23956117, PMID:24755949, PMID:25741868, PMID:26940150
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.