Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

GENE - TERM ANNOTATION REPORT

RGD ID: 1551771
Species: Mus musculus
RGD Object: Gene
Symbol: Efemp2
Name: epidermal growth factor-containing fibulin-like extracellular matrix protein 2
Acc ID: DOID:0070135
Term: autosomal recessive cutis laxa type IA
Definition: An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12189163 "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)
Efemp2 ISOEFEMP2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive cutis laxa type IA | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1APMID:15776121 PMID:16685658 PMID:17937443 PMID:19664000 PMID:20389311 PMID:21563328 PMID:22943132 PMID:23532871 PMID:24033266 PMID:24276535 PMID:25741868 PMID:25907466 PMID:27339457 PMID:28492532 PMID:31589614 PMID:34901216 PMID:8985490
Go Back to source page   Continue to Ontology report