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GENE - TERM ANNOTATION REPORT

RGD ID: 12490444
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Lamb1
Name: laminin subunit beta 1
Acc ID: DOID:0112230
Term: lissencephaly 5
Definition: A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB1 gene on chromosome 7q31.1. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/23472759/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/25925986/ "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)
Lamb1 ISOLAMB1 (Homo sapiens)7240710OMIM  
Lamb1 ISOLAMB1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: LAMB1-related condition | ClinVar Annotator: match by term: Lissencephaly 5PMID:16199547 PMID:17576681 PMID:23472759 PMID:25326635 PMID:25741868 PMID:25925986 PMID:28492532 PMID:9536098
Lamb1 ISOLAMB1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: LAMB1-related condition | ClinVar Annotator: match by term: Lissencephaly 5PMID:16199547 PMID:23472759 PMID:25326635 PMID:25741868 PMID:25925986 PMID:28492532
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