DisGeNET - a database of gene-disease associations

Overgrowth, C1849265

Variant: rs34927195 ×

Source: CURATED ×

Results per page

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:

rs34927195

NLGN3

0.700

CausalMutation

CLINVAR

Variations analysis of NLGN3 and NLGN4X gene in Chinese autism patients.

24570023

2014

dbSNP:

rs34927195

NLGN3

0.700

CausalMutation

CLINVAR

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

23849776

2013

dbSNP:

rs34927195

NLGN3

0.700

CausalMutation

CLINVAR

Disorder-associated mutations lead to functional inactivation of neuroligins.

15150161

2004

dbSNP:

rs34927195

NLGN3

0.700

CausalMutation

CLINVAR

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.

12669065

2003