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GENE - TERM ANNOTATION REPORT

RGD ID: 61983
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Grn
Name: granulin precursor
Acc ID: DOID:0110732
Term: neuronal ceroid lipofuscinosis 11
Definition: A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/22608501 "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)
Grn ISOGRN (Homo sapiens)7240710OMIM  
Grn ISOGRN (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Grn ISOGRN (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 11PMID:16862116 PMID:16950801 PMID:17228326 PMID:17371905 PMID:17576681 PMID:17698705 PMID:18183624 PMID:18184915 PMID:18192287 PMID:18234697 PMID:18245784 PMID:18314228 PMID:18392865 PMID:18543312 PMID:18565828 PMID:18723524 PMID:18838661 PMID:19020205 PMID:19158106 PMID:19683260 PMID:20020531 PMID:20028451 PMID:20045477 PMID:20142524 PMID:20522652 PMID:20947212 PMID:21403024 PMID:21482928 PMID:21800185 PMID:21891869 PMID:22127750 PMID:22312439 PMID:22491866 PMID:22608501 PMID:22781549 PMID:23117491 PMID:23684369 PMID:23724906 PMID:23742080 PMID:23759146 PMID:24503614 PMID:25104557 PMID:25525159 PMID:25546130 PMID:25741868 PMID:26159191 PMID:26467025 PMID:26652843 PMID:27632209 PMID:27790088 PMID:27997711 PMID:28492532 PMID:29614680 PMID:30279455 PMID:30528841 PMID:31031559 PMID:31122931 PMID:31600775 PMID:32507413 PMID:33203472 PMID:33980708 PMID:34162492 PMID:34435519 PMID:35896380 PMID:9536098
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