DisGeNET - a database of gene-disease associations

AUTISM, SUSCEPTIBILITY TO, X-LINKED 4, C0795888

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	139411
Gene Symbol:	PTCHD1

PTCHD1

0.400

Biomarker

disease

GENOMICS_ENGLAND

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.

2010

Entrez Id:	139411
Gene Symbol:	PTCHD1

PTCHD1

0.400

SusceptibilityMutation

disease

CLINVAR

Entrez Id:	139411
Gene Symbol:	PTCHD1

PTCHD1

0.400

GeneticVariation

disease

CLINVAR