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GENE - TERM ANNOTATION REPORT

RGD ID: 619837
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Neo1
Name: neogenin 1
Acc ID: DOID:3320
Term: Tay-Sachs disease
Definition: A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23. (DO)
Definition Source(s): https://medlineplus.gov/genetics/condition/tay-sachs-disease/ "DO" "DO", https://www.genome.gov/Genetic-Disorders/Tay-Sachs-Disease "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK1218/ "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)
Neo1 ISONEO1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Tay-Sachs diseasePMID:1833974 PMID:28492532 PMID:8490625
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