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GENE - TERM ANNOTATION REPORT

RGD ID: 1319968
Species: Mus musculus
RGD Object: Gene
Symbol: Vangl1
Name: VANGL planar cell polarity 1
Acc ID: DOID:9006951
Term: Autosomal Dominant Intellectual Developmental Disorder 70
Definition: A disease characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities. Caused by a specific heterozygous missense mutation (R1740Q) in the SETD2 gene on chromosome 3p21.
Definition Source(s): OMIM:620157
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)
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