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GENE - TERM ANNOTATION REPORT

RGD ID: 727897
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pmpca
Name: peptidase, mitochondrial processing subunit alpha
Acc ID: DOID:0060352
Term: Kleefstra syndrome 1
Definition: A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/9q34_deletion_syndrome "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/15264279 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/16826528 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/21245904 "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)
Pmpca ISOPMPCA (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Kleefstra syndrome 1PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 PMID:28492532 PMID:31209758
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