Details of Disease | DrugMAP

General Information of Disease (ID: DISYCG6A)

Disease Name	Autism, susceptibility to, 15
Synonyms	AUTS15; susceptibility to autism 15; autism, susceptibility to, type 15; autism, susceptibility to, 15; autism susceptibility 15
Disease Hierarchy	DIS98MYE: Inherited disease susceptibility DISRAMZ3: Autism, susceptiblity to DISYCG6A: Autism, susceptibility to, 15
Disease Identifiers	MONDO ID MONDO_0012801 UMLS CUI C2677504 OMIM ID 612100 MedGen ID 394302

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CDK8	TTBJR4L	Strong	Biomarker	[1]
CDK8	TTBJR4L	Definitive	Autosomal dominant	[1]
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This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FBXW11	OT2A6RLR	Strong	Autosomal dominant	[2]
NONO	OTN36Q6U	Strong	X-linked	[3]
SIN3A	OTM8OZWV	Strong	Autosomal dominant	[4]
SMARCD1	OTHFFT6G	Strong	Autosomal dominant	[5]
AUTS2	OTAEXHSC	Definitive	Autosomal dominant	[6]
CDK8	OTMC3CWX	Definitive	Autosomal dominant	[1]
POLR2A	OTHJQ1DZ	Definitive	Autosomal dominant	[7]
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⏷ Show the Full List of 7 DOT(s)

References

1	De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. Am J Hum Genet. 2019 Apr 4;104(4):709-720. doi: 10.1016/j.ajhg.2019.02.006. Epub 2019 Mar 21.
2	De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies. Am J Hum Genet. 2019 Sep 5;105(3):640-657. doi: 10.1016/j.ajhg.2019.07.005. Epub 2019 Aug 8.
3	Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing. Eur J Hum Genet. 2016 Nov;24(11):1635-1638. doi: 10.1038/ejhg.2016.72. Epub 2016 Jun 22.
4	Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. Nat Genet. 2016 Aug;48(8):877-87. doi: 10.1038/ng.3619. Epub 2016 Jul 11.
5	A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies. Am J Hum Genet. 2019 Apr 4;104(4):596-610. doi: 10.1016/j.ajhg.2019.02.001. Epub 2019 Mar 14.
6	Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome. Eur J Hum Genet. 2015 Jun;23(6):803-7. doi: 10.1038/ejhg.2014.173. Epub 2014 Sep 10.
7	De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum. Brain Dev. 2022 Aug;44(7):480-485. doi: 10.1016/j.braindev.2022.04.002. Epub 2022 Apr 20.