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GENE - TERM ANNOTATION REPORT

RGD ID: 7245271
Species: Homo sapiens
RGD Object: Gene
Symbol: POTEB2
Name: POTE ankyrin domain family member B2
Acc ID: DOID:0060041
Term: autism spectrum disorder
Definition: Wide continuum of associated cognitive and neurobehavioral disorders, including, but not limited to, three core-defining features: impairments in socialization, impairments in verbal and nonverbal communication, and restricted and repetitive patterns of behaviors. (from DSM-V)
Definition Source(s): MESH:D000067877, http://en.wikipedia.org/wiki/Autism_spectrum_disorder, http://www.neurodevnet.ca
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)
 IAGPRGD:113454278554872ClinVarClinVar Annotator: match by term: Autism spectrum disorders

PMID:21844811, PMID:23044707, PMID:23495136, PMID:25741868, PMID:27569545
 IAGPRGD:113454878554872ClinVarClinVar Annotator: match by term: Autism spectrum disorders

PMID:21844811, PMID:23044707, PMID:23495136, PMID:25741868, PMID:27569545
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.