DisGeNET - a database of gene-disease associations

LINC02245, long intergenic non-protein coding RNA 2245, 400958

N. diseases: 16; N. variants: 27

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:

rs201278558

Entrez Id:	6509;400958;107984063
Gene Symbol:	SLC1A4;LINC02245;LOC107984063

SLC1A4;LINC02245;LOC107984063

CUI:	C4225254
Disease:

SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY

0.800

GeneticVariation

UNIPROT

A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.

25930971

2015

dbSNP:

rs201278558

Entrez Id:	6509;400958;107984063
Gene Symbol:	SLC1A4;LINC02245;LOC107984063

SLC1A4;LINC02245;LOC107984063

CUI:	C4225254
Disease:

SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY

0.800

GeneticVariation

UNIPROT

Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.

26041762

2015

dbSNP:

rs201278558

Entrez Id:	6509;400958;107984063
Gene Symbol:	SLC1A4;LINC02245;LOC107984063

SLC1A4;LINC02245;LOC107984063

CUI:	C4225254
Disease:

SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY

0.800

GeneticVariation

UNIPROT

SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.

26138499

2015

dbSNP:

rs761533681

Entrez Id:	6509;400958;107984063
Gene Symbol:	SLC1A4;LINC02245;LOC107984063

SLC1A4;LINC02245;LOC107984063

CUI:	C4225254
Disease:

SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY

0.800

GeneticVariation

UNIPROT

A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.

25930971

2015

dbSNP:

rs761533681

Entrez Id:	6509;400958;107984063
Gene Symbol:	SLC1A4;LINC02245;LOC107984063

SLC1A4;LINC02245;LOC107984063

CUI:	C4225254
Disease:

SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY

0.800

GeneticVariation

UNIPROT

SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.

26138499

2015

dbSNP:

rs761533681

Entrez Id:	6509;400958;107984063
Gene Symbol:	SLC1A4;LINC02245;LOC107984063

SLC1A4;LINC02245;LOC107984063

CUI:	C4225254
Disease:

SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY

0.800

GeneticVariation

UNIPROT

Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.

26041762

2015

dbSNP:

rs1009358

Entrez Id:	400958;102724233;107984063
Gene Symbol:	LINC02245;LINC02576;LOC107984063

LINC02245;LINC02576;LOC107984063

CUI:	C0007222
Disease:

Cardiovascular Diseases

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs10170033

Entrez Id:	6509;400958;107984063
Gene Symbol:	SLC1A4;LINC02245;LOC107984063

SLC1A4;LINC02245;LOC107984063

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

22286219

2012

dbSNP:

rs10194107

Entrez Id:	6509;400958;107984063
Gene Symbol:	SLC1A4;LINC02245;LOC107984063

SLC1A4;LINC02245;LOC107984063

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

22286219

2012

dbSNP:

rs10211524

Entrez Id:	400958;107984063
Gene Symbol:	LINC02245;LOC107984063

LINC02245;LOC107984063

CUI:	C1611184
Disease:

Calcification of coronary artery

0.700

GeneticVariation

GWASCAT

Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.

22916037

2012

dbSNP:

rs10211524

Entrez Id:	400958;107984063
Gene Symbol:	LINC02245;LOC107984063

LINC02245;LOC107984063

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

22286219

2012

dbSNP:

rs1541580

Entrez Id:	6509;400958;107984063
Gene Symbol:	SLC1A4;LINC02245;LOC107984063

SLC1A4;LINC02245;LOC107984063

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

22286219

2012

dbSNP:

rs2007061

Entrez Id:	6509;400958;107984063
Gene Symbol:	SLC1A4;LINC02245;LOC107984063

SLC1A4;LINC02245;LOC107984063

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

22286219

2012

dbSNP:

rs2160387

Entrez Id:	6509;400958;107984063
Gene Symbol:	SLC1A4;LINC02245;LOC107984063

SLC1A4;LINC02245;LOC107984063

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

22286219

2012

dbSNP:

rs2422358

Entrez Id:	6509;400958;107984063
Gene Symbol:	SLC1A4;LINC02245;LOC107984063

SLC1A4;LINC02245;LOC107984063

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

22286219

2012

dbSNP:

rs3770706

Entrez Id:	6509;400958;107984063
Gene Symbol:	SLC1A4;LINC02245;LOC107984063

SLC1A4;LINC02245;LOC107984063

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

22286219

2012

dbSNP:

rs3770707

Entrez Id:	6509;400958;107984063
Gene Symbol:	SLC1A4;LINC02245;LOC107984063

SLC1A4;LINC02245;LOC107984063

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

22286219

2012

dbSNP:

rs6546120

Entrez Id:	6509;400958;107984063
Gene Symbol:	SLC1A4;LINC02245;LOC107984063

SLC1A4;LINC02245;LOC107984063

CUI:	C2599768
Disease:

Fractional shortening

0.700

GeneticVariation

GWASCAT

Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

29403010

2018

dbSNP:

rs150614530

Entrez Id:	6509;400958;107984063
Gene Symbol:	SLC1A4;LINC02245;LOC107984063

SLC1A4;LINC02245;LOC107984063

CUI:	C0002736
Disease:

Amyotrophic Lateral Sclerosis

0.010

GeneticVariation

BEFREE

The alteration of d-serine levels is associated with the pathogenesis of sporadic ALS and mutant SOD1 (G93A) animal model of ALS.

28043791

2017

dbSNP:

rs201278558

Entrez Id:	6509;400958;107984063
Gene Symbol:	SLC1A4;LINC02245;LOC107984063

SLC1A4;LINC02245;LOC107984063

CUI:	C4225254
Disease:

SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY

0.800

CausalMutation

CLINVAR

dbSNP:

rs10211524

Entrez Id:	400958;107984063
Gene Symbol:	LINC02245;LOC107984063

LINC02245;LOC107984063

CUI:	C0201874
Disease:

Amino acids measurement

0.700

GeneticVariation

GWASCAT

Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA.

27005778

2016

dbSNP:

rs10211524

Entrez Id:	400958;107984063
Gene Symbol:	LINC02245;LOC107984063

LINC02245;LOC107984063

CUI:	C0202202
Disease:

Protein measurement

0.700

GeneticVariation

GWASCAT

Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA.

27005778

2016

dbSNP:

rs1553375174

Entrez Id:	6509;400958;107984063
Gene Symbol:	SLC1A4;LINC02245;LOC107984063

SLC1A4;LINC02245;LOC107984063

CUI:	C4225254
Disease:

SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY

0.700

CausalMutation

CLINVAR

dbSNP:

rs1558529034

Entrez Id:	6509;400958;107984063
Gene Symbol:	SLC1A4;LINC02245;LOC107984063

SLC1A4;LINC02245;LOC107984063

CUI:	C4225254
Disease:

SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY

0.700

CausalMutation

CLINVAR

dbSNP:

rs201278558

Entrez Id:	6509;400958;107984063
Gene Symbol:	SLC1A4;LINC02245;LOC107984063

SLC1A4;LINC02245;LOC107984063

CUI:	C0026826
Disease:

Muscle Hypertonia

0.700

CausalMutation

CLINVAR