DisGeNET - a database of gene-disease associations

Source: GWASCAT

Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 ×

Results per page

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:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.400

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:	10903
Gene Symbol:	MTMR11

MTMR11

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.100

GeneticVariation

GWASCAT

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

31417091

2019

Entrez Id:	1012
Gene Symbol:	CDH13

CDH13

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

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:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.100

GeneticVariation

GWASCAT

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

31417091

2019

Entrez Id:	6899
Gene Symbol:	TBX1

TBX1

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.100

GeneticVariation

GWASCAT

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

31417091

2019

Entrez Id:	415056
Gene Symbol:	CNTFR-AS1

CNTFR-AS1

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.100

GeneticVariation

GWASCAT

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

31417091

2019

Entrez Id:	5362
Gene Symbol:	PLXNA2

PLXNA2

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.100

GeneticVariation

GWASCAT

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

31417091

2019

Entrez Id:	158172
Gene Symbol:	SERPINH1P1

SERPINH1P1

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.100

GeneticVariation

GWASCAT

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

31417091

2019

Entrez Id:	221294
Gene Symbol:	NT5DC1

NT5DC1

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.100

GeneticVariation

GWASCAT

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

31417091

2019

Entrez Id:	57211
Gene Symbol:	ADGRG6

ADGRG6

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

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:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.100

GeneticVariation

GWASCAT

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

31417091

2019

Entrez Id:	9586
Gene Symbol:	CREB5

CREB5

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.100

GeneticVariation

GWASCAT

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

31417091

2019

Entrez Id:	111240474
Gene Symbol:	CRYZL2P-SEC16B

CRYZL2P-SEC16B

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.100

GeneticVariation

GWASCAT

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

31417091

2019

Entrez Id:	89866
Gene Symbol:	SEC16B

SEC16B

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

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:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.100

GeneticVariation

GWASCAT

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

31417091

2019

Entrez Id:	54796
Gene Symbol:	BNC2

BNC2

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.100

GeneticVariation

GWASCAT

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

31417091

2019

Entrez Id:	79068
Gene Symbol:	FTO

FTO

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.100

GeneticVariation

GWASCAT

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

31417091

2019

Entrez Id:	375
Gene Symbol:	ARF1

ARF1

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.100

GeneticVariation

GWASCAT

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

31417091

2019

Entrez Id:	105463123
Gene Symbol:	XACT

XACT

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

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:	100874058
Gene Symbol:	COX10-AS1

COX10-AS1

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

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:	347516
Gene Symbol:	DGAT2L6

DGAT2L6

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

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:	9317
Gene Symbol:	PTER

PTER

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

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:	7528
Gene Symbol:	YY1

YY1

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

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:	57787
Gene Symbol:	MARK4

MARK4

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

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:	23281
Gene Symbol:	MTUS2

MTUS2

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

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