Autism (Phenotype)

Synonyms:Autism

Id:HP:0000717

Description:Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).

Results found

Linked to

	Label	Description
	SATB2 Gene (Entity type)	SATB homeobox 2
	SU003194 Subject (Entity type)	A subject from Metabolomics produced as part of the PR001918 project
	TMLHE Gene (Entity type)	trimethyllysine hydroxylase, epsilon
	PTCHD1 Gene (Entity type)	patched domain containing 1
	CHRNA7 Gene (Entity type)	cholinergic receptor nicotinic alpha 7 subunit [Source:HGNC Symbol;Acc:HGNC:1960]
	HERC2 Gene (Entity type)	HECT and RLD domain containing E3 ubiquitin protein ligase 2 [Source:HGNC Symbol;Acc:HGNC:4868]
	EHMT1 Gene (Entity type)	euchromatic histone lysine methyltransferase 1
	CELF2 Gene (Entity type)	CUGBP Elav-like family member 2
	HERC2 Gene (Entity type)	HECT and RLD domain containing E3 ubiquitin protein ligase 2 [Source:HGNC Symbol;Acc:HGNC:4868]
	CHD2 Gene (Entity type)	chromodomain helicase DNA binding protein 2

SATB2

Gene (Entity type)

SATB homeobox 2

SU003194

Subject (Entity type)

A subject from Metabolomics produced as part of the PR001918 project

TMLHE

Gene (Entity type)

trimethyllysine hydroxylase, epsilon

PTCHD1

Gene (Entity type)

patched domain containing 1

CHRNA7

Gene (Entity type)

cholinergic receptor nicotinic alpha 7 subunit [Source:HGNC Symbol;Acc:HGNC:1960]

HERC2

Gene (Entity type)

HECT and RLD domain containing E3 ubiquitin protein ligase 2 [Source:HGNC Symbol;Acc:HGNC:4868]

EHMT1

Gene (Entity type)

euchromatic histone lysine methyltransferase 1

CELF2

Gene (Entity type)

CUGBP Elav-like family member 2

HERC2

Gene (Entity type)

HECT and RLD domain containing E3 ubiquitin protein ligase 2 [Source:HGNC Symbol;Acc:HGNC:4868]

CHD2

Gene (Entity type)

chromodomain helicase DNA binding protein 2

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Consortium

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Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

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