DisGeNET - a database of gene-disease associations

Source: GWASCAT

Disease: Adolescent idiopathic scoliosis ×

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:

rs11190870

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.850

GeneticVariation

GWASCAT

Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese.

31417091

2019

dbSNP:

rs11190870

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.850

GeneticVariation

GWASCAT

Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci.

30395268

2018

dbSNP:

rs11190870

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.850

GeneticVariation

GWASCAT

A Functional SNP in BNC2 Is Associated with Adolescent Idiopathic Scoliosis.

26211971

2015

dbSNP:

rs12946942

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.810

GeneticVariation

GWASCAT

Identification of a susceptibility locus for severe adolescent idiopathic scoliosis on chromosome 17q24.3.

24023777

2013

dbSNP:

rs6570507

ADGRG6

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.810

GeneticVariation

GWASCAT

Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci.

30395268

2018

dbSNP:

rs10009128

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs10017335

LOC645513

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs10017573

STX18

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs10019193

PALLD ; DDX60L ; LOC107986198

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs10052657

PDE4D

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs10059423

CTNND2

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs10073216

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs10086956

PSKH2 ; ATP6V0D2

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs10103696

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs10112240

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs10117057

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs10119834

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs10120294

NDUFA8

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs10122943

GABBR2

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs10136383

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs10141031

NUMB

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs10170968

LOC107985969

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs10175478

LINC01122

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs10177451

LINC00298

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs1018597

FAM155A

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018