Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

RGD ID: 1359518
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cln8
Name: CLN8, transmembrane ER and ERGIC 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)
Cln8 ISOCLN8 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:22302580
Cln8 ISOCLN8 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosisPMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 PMID:15074367 PMID:15160397 PMID:16570191 PMID:16828266 PMID:18414213 PMID:19431184 PMID:19807737 PMID:2199011 PMID:21990111 PMID:22220808 PMID:23374165 PMID:24767253 PMID:25326637 PMID:25741868 PMID:25976102 PMID:26075876 PMID:26467025 PMID:26657971 PMID:27553520 PMID:27884173 PMID:28116333 PMID:28454995 PMID:28468868 PMID:28492532 PMID:29503925 PMID:30741402 PMID:30919163
Cln8 ISOCLN8 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronal ceroid lipofuscinosisPMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 PMID:15074367 PMID:15160397 PMID:16570191 PMID:16828266 PMID:17576681 PMID:18414213 PMID:19201763 PMID:19431184 PMID:19807737 PMID:20301601 PMID:21990111 PMID:22220808 PMID:23374165 PMID:24767253 PMID:25326637 PMID:25741868 PMID:25806950 PMID:25976102 PMID:26075876 PMID:26443629 PMID:26467025 PMID:26657971 PMID:27553520 PMID:27884173 PMID:28116333 PMID:28454995 PMID:28468868 PMID:28492532 PMID:29503925 PMID:29915382 PMID:29961513 PMID:30397314 PMID:30741402 PMID:30919163 PMID:31069529 PMID:31130284 PMID:31741823 PMID:32348865 PMID:33358637 PMID:36011304 PMID:36912596 PMID:9536098
Cln8 ISOCLN8 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronal ceroid lipofuscinosisPMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 PMID:15074367 PMID:15160397 PMID:16570191 PMID:16828266 PMID:18414213 PMID:19431184 PMID:19807737 PMID:2199011 PMID:21990111 PMID:22220808 PMID:23374165 PMID:24767253 PMID:25326637 PMID:25741868 PMID:25976102 PMID:26075876 PMID:26467025 PMID:26657971 PMID:27553520 PMID:27884173 PMID:28116333 PMID:28454995 PMID:28468868 PMID:28492532 PMID:29503925 PMID:29961513 PMID:30741402 PMID:30919163 PMID:31741823
Go Back to source page   Continue to Ontology report