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GENE - TERM ANNOTATION REPORT

CRRD ID: 619731
Species: Rattus norvegicus
CRRD Object: Gene
Symbol: Lrp4
Name: LDL receptor related protein 4
Acc ID: DOID:0060757
Term: sclerosteosis 2
Definition: A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/21471202
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:7317447240710OMIM  
 ISORGD:7317448554872ClinVarClinVar Annotator: match by OMIM:614305

PMID:11385236, PMID:21471202, PMID:24234652
 ISORGD:7317448554872ClinVarClinVar Annotator: match by OMIM:614305

PMID:21471202, PMID:24234652, PMID:7891385
 ISORGD:7317448554872ClinVarClinVar Annotator: match by term: Sclerosteosis 2

PMID:24234652, PMID:28492532
 ISORGD:7317448554872ClinVarClinVar Annotator: match by term: Sclerosteosis 2

PMID:25741868
 ISORGD:7317448554872ClinVarClinVar Annotator: match by term: Sclerosteosis 2

PMID:25741868, PMID:28492532
 ISORGD:7317448554872ClinVarClinVar Annotator: match by term: Sclerosteosis 2

PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.