Details of Disease

General Information of Disease (ID: DISCTW39)

Disease Name Autism, susceptibility to, 17
Synonyms AUTS17; susceptibility to autism 17; autism, susceptibility to, 17; autism susceptibility 17; autism, susceptibility to, type 17
Disease Hierarchy
DIS98MYE: Inherited disease susceptibility
DISRAMZ3: Autism, susceptiblity to
DISCTW39: Autism, susceptibility to, 17
Disease Identifiers
MONDO ID
MONDO_0013265
UMLS CUI
C3150693
OMIM ID
613436
MedGen ID
462043

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SHANK2 OTSQTPFQ Strong Autosomal dominant [1]
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References

1 Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nat Genet. 2010 Jun;42(6):489-91. doi: 10.1038/ng.589. Epub 2010 May 16.