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GENE - TERM ANNOTATION REPORT

RGD ID: 631341
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Hps6
Name: HPS6, biogenesis of lysosomal organelles complex 2 subunit 3
Acc ID: DOID:0060544
Term: Hermansky-Pudlak syndrome 6
Definition: A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24. (DO)
Definition Source(s): http://omim.org/entry/614075 "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)
Hps6 ISOHPS6 (Homo sapiens)7240710OMIM  
Hps6 ISOHPS6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: HPS6-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 6PMID:12548288 PMID:17041891 PMID:19843503 PMID:20158590 PMID:24033266 PMID:25741868 PMID:25949529 PMID:27225848 PMID:27593200 PMID:28492532 PMID:29054114 PMID:29345414 PMID:30369044 PMID:30387913 PMID:31064749 PMID:31898847 PMID:32581362 PMID:32725903 PMID:32830442 PMID:33878481 PMID:35054407
Hps6 ISSHps6 (Mus musculus)13592920MouseDOOMIM:614075 
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