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GENE - TERM ANNOTATION REPORT

RGD ID: 1564888
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ldlrad2
Name: low density lipoprotein receptor class A domain containing 2
Acc ID: DOID:0090005
Term: Schwartz-Jampel syndrome 1
Definition: A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11941538 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/1552548 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/18647752 "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)
Ldlrad2 ISOLDLRAD2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: HSPG2-related condition | ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar Annotator: match by term: Schwartz-Jampel syndrome type 1PMID:11038441 PMID:11941538 PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532
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