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GENE - TERM ANNOTATION REPORT

RGD ID: 735153
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pcdha9
Name: protocadherin alpha 9
Acc ID: DOID:0070061
Term: autosomal dominant intellectual developmental disorder 31
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PURA gene on chromosome 5q31.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/25439098 "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)
Pcdha9 ISOPCDHA9 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIESPMID:28492532
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