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GENE - TERM ANNOTATION REPORT

RGD ID: 3787
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Abcc9
Name: ATP binding cassette subfamily C member 9
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)
Abcc9 ISOABCC9 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Kleefstra syndrome 1PMID:21344641 PMID:22610116 PMID:23307537 PMID:25590979 PMID:25741868 PMID:27247394 PMID:27316244 PMID:28492532
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