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GENE - TERM ANNOTATION REPORT

RGD ID: 1308070
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Hps4
Name: HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
Acc ID: DOID:3753
Term: Hermansky-Pudlak syndrome
Definition: A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Hermansky%E2%80%93Pudlak_syndrome "DO" "DO", http://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome "DO" "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/946/viewAbstract "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)
Hps4 ISOHPS4 (Homo sapiens)1599546RGD  
Hps4 ISOHPS4 (Homo sapiens)11353873RGDDNA:nonsense mutation:exon: c.541C>T(p.Q181X) (rs119471022) 
Hps4 ISOHPS4 (Homo sapiens)11354897RGDDNA:nonsense,frameshift,insertion mutations:cds: 
Hps4 ISOHPS4 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Hps4 ISOHPS4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hermansky-Pudlak syndromePMID:12664304 PMID:24033266 PMID:25741868 PMID:26575419 PMID:28492532 PMID:31898847
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