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GENE - TERM ANNOTATION REPORT

CRRD ID: 1303274
Species: Rattus norvegicus
CRRD Object: Gene
Symbol: Dnmt3b
Name: DNA methyltransferase 3 beta
Acc ID: DOID:0060473
Term: Kabuki syndrome
Definition: A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/condition/kabuki-syndrome, https://en.wikipedia.org/wiki/Kabuki_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/25281733, https://www.ncbi.nlm.nih.gov/pubmed/25972376, https://www.ncbi.nlm.nih.gov/pubmed/26512256
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISOCRRD:16060378554872ClinVarClinVar Annotator: match by term: Kabuki syndrome 1

PMID:25741868, PMID:28492532, PMID:29255178
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.