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:	2
Gene Symbol:	A2M

A2M

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:	65985
Gene Symbol:	AACS

AACS

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:	10350
Gene Symbol:	ABCA9

ABCA9

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:	10060
Gene Symbol:	ABCC9

ABCC9

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:	28
Gene Symbol:	ABO

ABO

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.100

GeneticVariation

GWASCAT

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

30395268

2018

Entrez Id:	22985
Gene Symbol:	ACIN1

ACIN1

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:	55289
Gene Symbol:	ACOXL

ACOXL

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:	116285
Gene Symbol:	ACSM1

ACSM1

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:	6296
Gene Symbol:	ACSM3

ACSM3

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:	64431
Gene Symbol:	ACTR6

ACTR6

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:	81792
Gene Symbol:	ADAMTS12

ADAMTS12

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:	171019
Gene Symbol:	ADAMTS19

ADAMTS19

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:	11174
Gene Symbol:	ADAMTS6

ADAMTS6

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:	57188
Gene Symbol:	ADAMTSL3

ADAMTSL3

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:	108
Gene Symbol:	ADCY2

ADCY2

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:	120
Gene Symbol:	ADD3

ADD3

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:	166647
Gene Symbol:	ADGRA3

ADGRA3

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:	221395
Gene Symbol:	ADGRF5

ADGRF5

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:	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:	57211
Gene Symbol:	ADGRG6

ADGRG6

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.100

GeneticVariation

GWASCAT

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

30395268

2018

Entrez Id:	132
Gene Symbol:	ADK

ADK

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:	3899
Gene Symbol:	AFF3

AFF3

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:	185
Gene Symbol:	AGTR1

AGTR1

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:	57491
Gene Symbol:	AHRR

AHRR

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