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GENE - TERM ANNOTATION REPORT

RGD ID: 1552285
Species: Mus musculus
RGD Object: Gene
Symbol: Cln3
Name: CLN3 lysosomal/endosomal transmembrane protein, battenin
Acc ID: DOID:14503
Term: neuronal ceroid lipofuscinosis
Definition: A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure.
Definition Source(s): MESH:D009472
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)
Cln3 ISOCLN3 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Cln3 ISOCLN3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosisPMID:10332042 PMID:10749980 PMID:10924275 PMID:11339651 PMID:11589014 PMID:12189165 PMID:16199547 PMID:16291725 PMID:17475770 PMID:17576681 PMID:17868323 PMID:17947292 PMID:18414213 PMID:19132115 PMID:19135632 PMID:19489875 PMID:20187884 PMID:21228398 PMID:21499717 PMID:21990111 PMID:22013180 PMID:22545070 PMID:22748208 PMID:23142271 PMID:23374165 PMID:23539563 PMID:23847139 PMID:24154662 PMID:24271013 PMID:24625443 PMID:25525159 PMID:25741868 PMID:25976102 PMID:26467025 PMID:26633542 PMID:26766544 PMID:27104957 PMID:27290639 PMID:27486012 PMID:27533158 PMID:27843123 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28542676 PMID:28559085 PMID:28792770 PMID:29049447 PMID:29053603 PMID:29343940 PMID:29753273 PMID:30446867 PMID:30769084 PMID:31568712 PMID:31736247 PMID:31926949 PMID:32037395 PMID:32154056 PMID:32441891 PMID:32581362 PMID:32631363 PMID:32685355 PMID:33497524 PMID:33507216 PMID:33921607 PMID:34906470 PMID:35929194 PMID:36139381 PMID:36909829 PMID:7553855 PMID:9311735 PMID:9450775 PMID:9536098 PMID:9618513 PMID:9932957
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