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GENE - TERM ANNOTATION REPORT

RGD ID: 3401
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Prkg2
Name: protein kinase cGMP-dependent 2
Acc ID: DOID:0081238
Term: acromesomelic dysplasia-4
Definition: An acromesomelic dysplasia that is characterized by disproportionate short stature due to mesomelic shortening of the limbs and that has_material_basis_in homozygous mutation in the PRKG2 gene on chromosome 4q21. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/33106379/ "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)
Prkg2 ISOPRKG2 (Homo sapiens)7240710OMIM  
Prkg2 ISOPRKG2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Acromesomelic dysplasia 4PMID:25741868 PMID:33106379 PMID:34782440
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