DisGeNET - a database of gene-disease associations

Source: GWASCAT

Disease: Adolescent idiopathic scoliosis ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	1012
Gene Symbol:	CDH13

CDH13

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.100

GeneticVariation

GWASCAT

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

31417091

2019

Entrez Id:	1271
Gene Symbol:	CNTFR

CNTFR

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.100

GeneticVariation

GWASCAT

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

31417091

2019

Entrez Id:	91653
Gene Symbol:	BOC

BOC

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.100

GeneticVariation

GWASCAT

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

31417091

2019

Entrez Id:	64478
Gene Symbol:	CSMD1

CSMD1

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.100

GeneticVariation

GWASCAT

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

31417091

2019

Entrez Id:	4753
Gene Symbol:	NELL2

NELL2

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.100

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

Entrez Id:	3899
Gene Symbol:	AFF3

AFF3

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.100

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

Entrez Id:	105370309
Gene Symbol:	LINC02336

LINC02336

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.100

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

Entrez Id:	8672
Gene Symbol:	EIF4G3

EIF4G3

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.100

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

Entrez Id:	22871
Gene Symbol:	NLGN1

NLGN1

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.100

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

Entrez Id:	85481
Gene Symbol:	PSKH2

PSKH2

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.100

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

Entrez Id:	105369343
Gene Symbol:	MIR194-2HG

MIR194-2HG

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.100

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

Entrez Id:	1000
Gene Symbol:	CDH2

CDH2

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.100

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

Entrez Id:	1794
Gene Symbol:	DOCK2

DOCK2

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.100

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

Entrez Id:	9723
Gene Symbol:	SEMA3E

SEMA3E

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.100

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

Entrez Id:	55669
Gene Symbol:	MFN1

MFN1

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.100

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

Entrez Id:	26524
Gene Symbol:	LATS2

LATS2

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.100

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

Entrez Id:	23583
Gene Symbol:	SMUG1

SMUG1

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.100

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

Entrez Id:	252983
Gene Symbol:	STXBP4

STXBP4

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.100

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

Entrez Id:	5610
Gene Symbol:	EIF2AK2

EIF2AK2

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.100

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

Entrez Id:	56990
Gene Symbol:	CDC42SE2

CDC42SE2

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.100

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

Entrez Id:	6098
Gene Symbol:	ROS1

ROS1

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.100

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

Entrez Id:	5169
Gene Symbol:	ENPP3

ENPP3

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.100

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

Entrez Id:	168507
Gene Symbol:	PKD1L1

PKD1L1

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.100

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

Entrez Id:	23022
Gene Symbol:	PALLD

PALLD

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.100

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

Entrez Id:	6424
Gene Symbol:	SFRP4

SFRP4

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

0.100

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