DisGeNET - a database of gene-disease associations

SLC1A2, solute carrier family 1 member 2, 6506

N. diseases: 208; N. variants: 12

Source: ALL

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs3794087

Entrez Id:	6506
Gene Symbol:	SLC1A2

SLC1A2

CUI:	C0270736
Disease:

Essential Tremor

0.900

GeneticVariation

BEFREE

Recently, a genome-wide association study of a Caucasian population identified variant rs3794087 in intron 4 of the SLC1A2 gene, which may increase the risk of essential tremor (ET).

29275184

2018

dbSNP:

rs3794087

Entrez Id:	6506
Gene Symbol:	SLC1A2

SLC1A2

CUI:	C0270736
Disease:

Essential Tremor

0.900

GeneticVariation

BEFREE

Our results showed a lack of association between rs6280 and rs3794087 with the risk for ET, though a marginal increased risk for ET was observed among the rs1052553A allele carriers, which was not confirmed with a family-based association study.

27456607

2016

dbSNP:

rs3794087

Entrez Id:	6506
Gene Symbol:	SLC1A2

SLC1A2

CUI:	C0270736
Disease:

Essential Tremor

0.900

GeneticVariation

BEFREE

SLC1A2 rs3794087 are associated with susceptibility to Parkinson's disease, but not essential tremor, amyotrophic lateral sclerosis or multiple system atrophy in a Chinese population.

27206883

2016

dbSNP:

rs3794087

Entrez Id:	6506
Gene Symbol:	SLC1A2

SLC1A2

CUI:	C0270736
Disease:

Essential Tremor

0.900

GeneticVariation

BEFREE

Replication of two lead single nucleotide polymorphisms of previous small genome-wide association studies (rs3794087 in SLC1A2, rs9652490 in LINGO1) did not confirm the association with essential tremor.

27797806

2016

dbSNP:

rs3794087

Entrez Id:	6506
Gene Symbol:	SLC1A2

SLC1A2

CUI:	C0270736
Disease:

Essential Tremor

0.900

GeneticVariation

BEFREE

The results of the meta-analysis suggest that rs3794087 is not associated with the risk for ET.

26313486

2015

dbSNP:

rs3794087

Entrez Id:	6506
Gene Symbol:	SLC1A2

SLC1A2

CUI:	C0270736
Disease:

Essential Tremor

0.900

GeneticVariation

BEFREE

These findings therefore do not support a role for SLC1A2 rs3794087 in susceptibility to ET in the North American population.

24139280

2014

dbSNP:

rs3794087

Entrez Id:	6506
Gene Symbol:	SLC1A2

SLC1A2

CUI:	C0270736
Disease:

Essential Tremor

0.900

GeneticVariation

BEFREE

(4) Subsequent GWAS further identified an intronic variant (rs3794087) of the main glial glutamate transporter (SLC1A2) gene to be associated with ET with an odds ratio (OR) of approximately 1.4.

23596072

2013

dbSNP:

rs3794087

Entrez Id:	6506
Gene Symbol:	SLC1A2

SLC1A2

CUI:	C0270736
Disease:

Essential Tremor

0.900

GeneticVariation

BEFREE

Our study suggests that SLC1A2 rs3794087 is not associated with the risk for developing familial ET in the Spanish population, thus subtracting relevance to SLC1A2 rs3794087 as a risk biomarker for ET.

23949322

2013

dbSNP:

rs3794087

Entrez Id:	6506
Gene Symbol:	SLC1A2

SLC1A2

CUI:	C0270736
Disease:

Essential Tremor

0.900

GeneticVariation

BEFREE

The results showed that rs3794087 was associated with ET among the Taiwanese.The odds ratio was 1.37.

23951268

2013

dbSNP:

rs3794087

Entrez Id:	6506
Gene Symbol:	SLC1A2

SLC1A2

CUI:	C0270736
Disease:

Essential Tremor

0.900

GeneticVariation

GWASCAT

Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor.

22764253

2012

dbSNP:

rs3794087

Entrez Id:	6506
Gene Symbol:	SLC1A2

SLC1A2

CUI:	C0270736
Disease:

Essential Tremor

0.900

GeneticVariation

BEFREE

We verified the association of rs3794087 with ET in a second-stage sample (p = 1.25 × 10(-3), OR = 1.38).

22764253

2012

dbSNP:

rs3794087

Entrez Id:	6506
Gene Symbol:	SLC1A2

SLC1A2

CUI:	C0270736
Disease:

Essential Tremor

0.900

GeneticVariation

GWASDB

Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor.

22764253

2012

dbSNP:

rs886037942

Entrez Id:	6506
Gene Symbol:	SLC1A2

SLC1A2

CUI:	C4310717
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41

0.800

GeneticVariation

UNIPROT

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.

28777935

2017

dbSNP:

rs886037943

Entrez Id:	6506
Gene Symbol:	SLC1A2

SLC1A2

CUI:	C4310717
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41

0.800

GeneticVariation

UNIPROT

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.

28777935

2017

dbSNP:

rs886037942

Entrez Id:	6506
Gene Symbol:	SLC1A2

SLC1A2

CUI:	C4310717
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41

0.800

GeneticVariation

UNIPROT

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

27476654

2016

dbSNP:

rs886037943

Entrez Id:	6506
Gene Symbol:	SLC1A2

SLC1A2

CUI:	C4310717
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41

0.800

GeneticVariation

UNIPROT

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

27476654

2016

dbSNP:

rs10768122

Entrez Id:	6506
Gene Symbol:	SLC1A2

SLC1A2

CUI:	C0042900
Disease:

Vitiligo

0.800

GeneticVariation

GWASCAT

Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.

22561518

2012

dbSNP:

rs10768122

Entrez Id:	6506
Gene Symbol:	SLC1A2

SLC1A2

CUI:	C0042900
Disease:

Vitiligo

0.800

GeneticVariation

GWASDB

Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.

22561518

2012

dbSNP:

rs886037942

Entrez Id:	6506
Gene Symbol:	SLC1A2

SLC1A2

CUI:	C4310717
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41

0.800

CausalMutation

CLINVAR

dbSNP:

rs886037942

Entrez Id:	6506
Gene Symbol:	SLC1A2

SLC1A2

CUI:	C4310717
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41

0.800

CausalMutation

CLINVAR

dbSNP:

rs886037943

Entrez Id:	6506
Gene Symbol:	SLC1A2

SLC1A2

CUI:	C4310717
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41

0.800

CausalMutation

CLINVAR

dbSNP:

rs2421897

Entrez Id:	6506
Gene Symbol:	SLC1A2

SLC1A2

CUI:	C0011860
Disease:

Diabetes Mellitus, Non-Insulin-Dependent

0.700

GeneticVariation

GWASCAT

Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.

30718926

2019

dbSNP:

rs781379291

Entrez Id:	6506
Gene Symbol:	SLC1A2

SLC1A2

CUI:	C4310717
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41

0.700

GeneticVariation

CLINVAR

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.

28777935

2017

dbSNP:

rs1043101

Entrez Id:	6506
Gene Symbol:	SLC1A2

SLC1A2

CUI:	C0042900
Disease:

Vitiligo

0.700

GeneticVariation

GWASCAT

Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.

27723757

2016

dbSNP:

rs781379291

Entrez Id:	6506
Gene Symbol:	SLC1A2

SLC1A2

CUI:	C4310717
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41

0.700

GeneticVariation

CLINVAR

Mutating a conserved proline residue within the trimerization domain modifies Na+ binding to excitatory amino acid transporters and associated conformational changes.

24214974

2013