DisGeNET - a database of gene-disease associations

Autistic Disorder, C0004352

Variant: rs768913131 ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs768913131

rs768913131

NRXN1

0.010

GeneticVariation

BEFREE

The Arg451Cys-neuroligin-3 mutation associated with autism reveals a defect in protein processing.

2004