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GENE - TERM ANNOTATION REPORT

RGD ID: 620700
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Lrpap1
Name: LDL receptor related protein associated protein 1
Acc ID: DOID:12714
Term: Ellis-Van Creveld syndrome
Definition: A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the EVC or EVC2 gene on chromosome 4p16.2. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/10700184 "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)
Lrpap1 ISOLRPAP1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ellis-van Creveld syndromePMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532
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