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GENE - TERM ANNOTATION REPORT

RGD ID: 620372
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Hnrnpu
Name: heterogeneous nuclear ribonucleoprotein U
Acc ID: DOID:0080418
Term: developmental and epileptic encephalopathy 54
Definition: A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/27652284 "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)
Hnrnpu ISOHNRNPU (Homo sapiens)7240710OMIM  
Hnrnpu ISOHNRNPU (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Hnrnpu ISOHNRNPU (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 54PMID:16199547 PMID:17576681 PMID:22678713 PMID:23708187 PMID:23934111 PMID:25356899 PMID:25356970 PMID:25741868 PMID:26467025 PMID:27652284 PMID:28283832 PMID:28492532 PMID:28815871 PMID:28944577 PMID:29170628 PMID:29758562 PMID:30866059 PMID:32319732 PMID:32488064 PMID:33874999 PMID:35138025 PMID:35571021 PMID:9536098
Hnrnpu ISSHnrnpu (Mus musculus)13592920MouseDOOMIM:617391 
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