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:	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

Entrez Id:	56934
Gene Symbol:	CA10

CA10

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:	57117
Gene Symbol:	INTS12

INTS12

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:	84187
Gene Symbol:	TMEM164

TMEM164

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:	65217
Gene Symbol:	PCDH15

PCDH15

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:	4773
Gene Symbol:	NFATC2

NFATC2

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:	27241
Gene Symbol:	BBS9

BBS9

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:	50507
Gene Symbol:	NOX4

NOX4

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:	10301
Gene Symbol:	DLEU1

DLEU1

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:	100505994
Gene Symbol:	LUCAT1

LUCAT1

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:	10982
Gene Symbol:	MAPRE2

MAPRE2

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:	832
Gene Symbol:	CAPZB

CAPZB

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:	2674
Gene Symbol:	GFRA1

GFRA1

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