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:

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:

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

CausalMutation

CLINVAR

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:

rs1009358

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

LINC02245;LINC02576;LOC107984063

CUI:	C0011860
Disease:

Diabetes Mellitus, Non-Insulin-Dependent

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.

30054458

2018

dbSNP:

rs1009360

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

LINC02245;LINC02576;LOC107984063

CUI:	C0392885
Disease:

High density lipoprotein measurement

0.700

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

dbSNP:

rs1009360

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

LINC02245;LINC02576;LOC107984063

CUI:	C0202236
Disease:

Triglycerides measurement

0.700

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

dbSNP:

rs2723064

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

LINC02245;LINC02576;LOC107984063

CUI:	C0004238
Disease:

Atrial Fibrillation

0.700

GeneticVariation

GWASCAT

Multi-ethnic genome-wide association study for atrial fibrillation.

29892015

2018

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:

rs6728523

Entrez Id:	23177;400958;107984063
Gene Symbol:	CEP68;LINC02245;LOC107984063

CEP68;LINC02245;LOC107984063

CUI:	C0392885
Disease:

High density lipoprotein measurement

0.700

GeneticVariation

GWASCAT

Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

30275531

2018

dbSNP:

rs1541580

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

SLC1A4;LINC02245;LOC107984063

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs2540950

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

LINC02245;LINC02576;LOC107984063

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

27841878

2017

dbSNP:

rs2540953

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

LINC02245;LINC02576;LOC107984063

CUI:	C0004238
Disease:

Atrial Fibrillation

0.700

GeneticVariation

GWASCAT

Identification of six new genetic loci associated with atrial fibrillation in the Japanese population.

28416822

2017

dbSNP:

rs2723064

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

LINC02245;LINC02576;LOC107984063

CUI:	C0004238
Disease:

Atrial Fibrillation

0.700

GeneticVariation

GWASCAT

Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.

28416818

2017

dbSNP:

rs3732062

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

SLC1A4;LINC02245;LOC107984063

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs3770705

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

SLC1A4;LINC02245;LOC107984063

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs6546118

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

LINC02245;LOC107984063

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs6712664

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

LINC02245;LOC107984063

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs9677813

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

LINC02245;LOC107984063

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

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