Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

RGD ID: 1563910
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Lmbr1
Name: limb development membrane protein 1
Acc ID: DOID:0050603
Term: acheiropody
Definition: An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Acheiropodia "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)
Lmbr1 ISOLMBR1 (Homo sapiens)7240710OMIM  
Lmbr1 ISOLMBR1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Lmbr1 ISOLMBR1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: AcheiropodiaPMID:11090342 PMID:24965254 PMID:25741868 PMID:33863876
Lmbr1 ISSLmbr1 (Mus musculus)13592920MouseDOOMIM:200500 
Go Back to source page   Continue to Ontology report