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GENE - TERM ANNOTATION REPORT

RGD ID: 1311428
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Lrba
Name: LPS responsive beige-like anchor protein
Acc ID: DOID:0111802
Term: syndromic microphthalmia 14
Definition: A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in the MAB21L2 gene on chromosome 4q31.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/24906020 "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)
Lrba ISOLRBA (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Colobomatous microphthalmia-rhizomelic dysplasia syndromePMID:24906020 PMID:25719200 PMID:25741868 PMID:25741913 PMID:32860008 PMID:34008892
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