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GENE - TERM ANNOTATION REPORT

RGD ID: 620478
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Inpp5e
Name: inositol polyphosphate-5-phosphatase E
Acc ID: DOID:9006992
Term: MORM Syndrome
Definition: null
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)
Inpp5e ISOINPP5E (Homo sapiens)12911209RGDDNA:nonsense mutation:exon:p.Q627X (c.1879C>T) (human) 
Inpp5e ISOINPP5E (Homo sapiens)7240710OMIM  
Inpp5e ISOINPP5E (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Inpp5e ISOINPP5E (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: INPP5E-related condition | ClinVar Annotator: match by term: MORM syndromePMID:15786477 PMID:17576681 PMID:19668215 PMID:19668216 PMID:23034536 PMID:23386033 PMID:23847139 PMID:25741868 PMID:26092869 PMID:26748598 PMID:27401686 PMID:28125082 PMID:28454995 PMID:28492532 PMID:28559085 PMID:28771248 PMID:29186038 PMID:29555955 PMID:29915382 PMID:29987673 PMID:33749171 PMID:34188062 PMID:9536098
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