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GENE - TERM ANNOTATION REPORT

RGD ID: 62011
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Igbp1
Name: immunoglobulin binding protein 1
Acc ID: DOID:0060816
Term: corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Definition: A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/14556245 "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)
Igbp1 ISOIGBP1 (Homo sapiens)7240710OMIM  
Igbp1 ISOIGBP1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Igbp1 ISOIGBP1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | ClinVar Annotator: match by term: IGBP1-related conditionPMID:25741868 PMID:28492532
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