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 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
Advanced Search (OLGA)

GENE - TERM ANNOTATION REPORT

RGD ID: 1583011
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Stambpl1
Name: STAM binding protein-like 1
Acc ID: DOID:0080191
Term: PTEN hamartoma tumor syndrome
Definition: A syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene. (DO)
Definition Source(s): https://rarediseases.org/rare-diseases/pten-hamartoma-tumor-syndrome/ "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK1488/ "DO" "DO", PMID:22628360 "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)
Stambpl1 ISOSTAMBPL1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: PTEN hamartoma tumor syndromePMID:18456716 PMID:21194675 PMID:21926107 PMID:22382802 PMID:23132533 PMID:23335809 PMID:28492532 PMID:9467011
Go Back to source page   Continue to Ontology report