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VARIANT - TERM ANNOTATION REPORT

RGD ID: 9692812
Species: Homo sapiens
RGD Object: Variant
Symbol: CV177145
Name: NM_006493.4(CLN5):c.-146T>C
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)
CV177145 IAGP 8554872ClinVarClinVar Annotator: match by term: Neuronal ceroid lipofuscinosisPMID:25741868 PMID:26467025 PMID:26990548 PMID:27533158 PMID:28492532
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