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GENE - TERM ANNOTATION REPORT

RGD ID: 2122
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Apbb1
Name: amyloid beta precursor protein binding family B member 1
Acc ID: DOID:0070112
Term: Niemann-Pick disease type B
Definition: A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12369017 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/13696518 "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)
Apbb1 ISOAPBB1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosisPMID:12369017 PMID:1391960 PMID:15221801 PMID:17011332 PMID:18815062 PMID:1885770 PMID:2023926 PMID:21502868 PMID:25741868 PMID:27725636 PMID:28492532 PMID:29995201
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