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 _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs10009128

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

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

dbSNP:

rs10017335

LOC645513

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

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

dbSNP:

rs10017573

STX18

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

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

dbSNP:

rs10019193

PALLD ; DDX60L ; LOC107986198

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

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

dbSNP:

rs10052657

PDE4D

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

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

dbSNP:

rs10059423

CTNND2

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

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

dbSNP:

rs10073216

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

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

dbSNP:

rs10086956

PSKH2 ; ATP6V0D2

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

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

dbSNP:

rs10103696

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

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

dbSNP:

rs10112240

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

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

dbSNP:

rs10117057

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

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

dbSNP:

rs10119834

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

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

dbSNP:

rs10120294

NDUFA8

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

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

dbSNP:

rs10122943

GABBR2

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

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

dbSNP:

rs10136383

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

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

dbSNP:

rs10141031

NUMB

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

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

dbSNP:

rs10170968

LOC107985969

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

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

dbSNP:

rs10175478

LINC01122

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

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

dbSNP:

rs10177451

LINC00298

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

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

dbSNP:

rs1018597

FAM155A

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

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

dbSNP:

rs1019348

LINC02405

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

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

dbSNP:

rs10195136

DPP10

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

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

dbSNP:

rs10238767

GALNT11

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

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

dbSNP:

rs1024036

KIF9

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

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

dbSNP:

rs10242233

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

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