DisGeNET - a database of gene-disease associations

Source: GWASCAT

Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 ×

The Variant filter does not apply in GDA tabs

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:	54796
Gene Symbol:	BNC2

BNC2

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.100

GeneticVariation

GWASCAT

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

26211971

2015

Entrez Id:	9472
Gene Symbol:	AKAP6

AKAP6

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:	57554
Gene Symbol:	LRRC7

LRRC7

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:	441631
Gene Symbol:	TSPAN11

TSPAN11

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:	107984700
Gene Symbol:	LINC02306

LINC02306

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:	5980
Gene Symbol:	REV3L

REV3L

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:	5522
Gene Symbol:	PPP2R2C

PPP2R2C

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:	55691
Gene Symbol:	FRMD4A

FRMD4A

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:	84893
Gene Symbol:	FBH1

FBH1

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:	79632
Gene Symbol:	FAM184A

FAM184A

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:	728084
Gene Symbol:	LINC02458

LINC02458

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:	120526
Gene Symbol:	DNAJC24

DNAJC24

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:	10392
Gene Symbol:	NOD1

NOD1

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:	255743
Gene Symbol:	NPNT

NPNT

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:	9723
Gene Symbol:	SEMA3E

SEMA3E

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:	55297
Gene Symbol:	CCDC91

CCDC91

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:	577
Gene Symbol:	ADGRB3

ADGRB3

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:	65084
Gene Symbol:	TMEM135

TMEM135

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:	81570
Gene Symbol:	CLPB

CLPB

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:	64478
Gene Symbol:	CSMD1

CSMD1

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:	137902
Gene Symbol:	PXDNL

PXDNL

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:	320
Gene Symbol:	APBA1

APBA1

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:	81846
Gene Symbol:	SBF2

SBF2

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:	339788
Gene Symbol:	LINC00298

LINC00298

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:	84668
Gene Symbol:	FAM126A

FAM126A

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