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GENE - TERM ANNOTATION REPORT

RGD ID: 14053032
Species: Sus scrofa
RGD Object: Gene
Symbol: B4GAT1
Name: beta-1,4-glucuronyltransferase 1
Acc ID: DOID:0070133
Term: autosomal recessive cutis laxa type IB
Definition: An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/16685658 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/19664000 "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)
B4GAT1 ISOB4GAT1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1BPMID:28492532
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