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GENE - TERM ANNOTATION REPORT

RGD ID: 71087
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Epb41l1
Name: erythrocyte membrane protein band 4.1-like 1
Acc ID: DOID:0070041
Term: autosomal dominant intellectual developmental disorder 11
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EPB41L1 gene on chromosome 20q11.23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/21376300 "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)
Epb41l1 ISOEPB41L1 (Homo sapiens)7240710OMIM  
Epb41l1 ISOEPB41L1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Epb41l1 ISOEPB41L1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Intellectual disability, autosomal dominant 11PMID:11050113 PMID:19503082 PMID:21376300 PMID:25326635 PMID:25741868
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