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

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:

rs1057517664

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:

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

dbSNP:

rs201278558

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

SLC1A4;LINC02245;LOC107984063

CUI:	C3887898
Disease:

Infantile Spasm

0.700

CausalMutation

CLINVAR

dbSNP:

rs761533681

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

SLC1A4;LINC02245;LOC107984063

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Calmodulin and protein kinase C cross-talk: the MARCKS protein is an actin filament and plasma membrane cross-linking protein regulated by protein kinase C phosphorylation and by calmodulin.

1395931

1992

dbSNP:

rs761533681

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

SLC1A4;LINC02245;LOC107984063

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

L-serine synthesis in the central nervous system: a review on serine deficiency disorders.

19963421

2010

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:	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:

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:

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:

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:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

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:

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:

rs761533681

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

SLC1A4;LINC02245;LOC107984063

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

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

26041762

2015