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: 69193
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Hps1
Name: HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
Acc ID: DOID:0060539
Term: Hermansky-Pudlak syndrome 1
Definition: A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24. (DO)
Definition Source(s): http://omim.org/entry/203300 "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)
Hps1 ISOHPS1 (Homo sapiens)1625056RGDDNA:duplication:exon 
Hps1 ISOHPS1 (Homo sapiens)7240710OMIM  
Hps1 ISOHPS1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Hps1 ISOHPS1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: HPS1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1PMID:10971344 PMID:12442288 PMID:14510955 PMID:15519141 PMID:15952982 PMID:16185271 PMID:16199547 PMID:17365864 PMID:17576681 PMID:18326704 PMID:19334085 PMID:19398212 PMID:19665357 PMID:20301464 PMID:20514622 PMID:20662851 PMID:21458243 PMID:21833017 PMID:24033266 PMID:24583434 PMID:25741868 PMID:26575419 PMID:26785811 PMID:26806224 PMID:27593200 PMID:28081892 PMID:28492532 PMID:29345414 PMID:29941477 PMID:30387913 PMID:30634918 PMID:30985222 PMID:31064749 PMID:31141302 PMID:31898847 PMID:32581362 PMID:32662942 PMID:32725903 PMID:33878481 PMID:34216551 PMID:34362826 PMID:34838614 PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9536098 PMID:9562579 PMID:9705234
Hps1 ISSHps1 (Mus musculus)13592920MouseDOOMIM:203300 
Go Back to source page   Continue to Ontology report