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GENE - TERM ANNOTATION REPORT

RGD ID: 18375785
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: PYCR1
Name: pyrroline-5-carboxylate reductase 1
Acc ID: DOID:0081333
Term: Wiedemann-Rautenstrauch syndrome
Definition: A progeroid syndrome that is characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment and that has_material_basis_in compound heterozygous mutation in the POLR3A gene on chromosome 10q22. (DO)
Definition Source(s): https://medlineplus.gov/genetics/condition/wiedemann-rautenstrauch-syndrome/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/23696134/ "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)
PYCR1 ISOPYCR1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndromePMID:16199547 PMID:16233902 PMID:18348262 PMID:19648921 PMID:21834030 PMID:23963297 PMID:24035636 PMID:25741868 PMID:28492532 PMID:30450527 PMID:32860008 PMID:4076251
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