Send us a Message



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

GENE - TERM ANNOTATION REPORT

RGD ID: 1566012
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Frem2
Name: FRAS1 related extracellular matrix 2
Acc ID: DOID:0111407
Term: Fraser syndrome 2
Definition: A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FREM2 gene on chromosome 13q13.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15838507 "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)
Frem2 IAGP 13464328RGD  
Frem2 IAGP 126781714RGD  
Frem2 ISOFREM2 (Homo sapiens)7240710OMIM  
Frem2 ISOFREM2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: FREM2-related condition | ClinVar Annotator: match by term: Fraser syndrome 2PMID:15838507 PMID:18203166 PMID:18671281 PMID:24115501 PMID:24700879 PMID:25741868 PMID:25741913 PMID:26275891 PMID:26489029 PMID:26552811 PMID:28492532 PMID:29618029 PMID:29688405 PMID:30143558 PMID:30773290 PMID:30802441 PMID:30838450 PMID:34837691 PMID:36360262
Go Back to source page   Continue to Ontology report