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GENE - TERM ANNOTATION REPORT

RGD ID: 1309714
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cln6
Name: CLN6, transmembrane ER protein
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)
Cln6 ISOCLN6 (Homo sapiens)1358512RGD  
Cln6 ISOCLN6 (Homo sapiens)11064442RGDDNA:mutations: : 
Cln6 ISOCln6 (Mus musculus)1358512RGD  
Cln6 ISOCLN6 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:23789114
Cln6 ISOCLN6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronal ceroid lipofuscinosisPMID:11727201 PMID:11791207 PMID:12673792 PMID:12815591 PMID:14997940 PMID:15265688 PMID:15996215 PMID:16199547 PMID:17046213 PMID:17453415 PMID:17576681 PMID:17988881 PMID:18414213 PMID:18684116 PMID:18811591 PMID:18846690 PMID:19135028 PMID:19201763 PMID:20020536 PMID:20301601 PMID:20430023 PMID:21359198 PMID:21549341 PMID:21819394 PMID:21990111 PMID:22883287 PMID:24102492 PMID:24215330 PMID:25359263 PMID:25401298 PMID:25741868 PMID:25976102 PMID:26075876 PMID:26115733 PMID:26206375 PMID:26374131 PMID:26467025 PMID:26539891 PMID:27535533 PMID:27553520 PMID:27903347 PMID:28492532 PMID:28587997 PMID:28831385 PMID:29140481 PMID:29709712 PMID:30019023 PMID:30285654 PMID:30528883 PMID:30561534 PMID:31216804 PMID:31319225 PMID:31489614 PMID:31741823 PMID:31743419 PMID:32171521 PMID:33024953 PMID:34597687 PMID:34868216 PMID:35505348 PMID:36435927 PMID:9536098
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