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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs4940576

BCL2

0.925

0.040

63181406

intron variant

T/A;C

snv

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2015

2017

dbSNP:

rs678741

LBX1-AS1

0.851

0.200

101237824

intron variant

G/A

snv

0.51

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2015

2017

dbSNP:

rs10009128

0.925

0.040

19511508

intron variant

C/T

snv

0.34

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs10017335

LOC645513

0.925

0.040

119460368

intron variant

C/G

snv

0.28

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs10017573

STX18

0.925

0.040

4461337

intron variant

T/C

snv

0.15

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs10019193

PALLD ; DDX60L ; LOC107986198

0.925

0.040

168526369

intron variant

G/A;C

snv

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs10052657

PDE4D

0.807

0.120

59111944

intron variant

C/A

snv

0.17

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs10059423

CTNND2

0.925

0.040

11600827

intron variant

A/C;T

snv

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs10086956

PSKH2 ; ATP6V0D2

0.925

0.040

86052433

intron variant

C/G

snv

0.31

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs10103696

0.925

0.040

90574875

intron variant

G/A

snv

0.12

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs10122943

GABBR2

0.925

0.040

98400981

intron variant

C/T

snv

6.3E-02

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs10136383

0.925

0.040

22332649

intron variant

C/T

snv

6.4E-02

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs10141031

NUMB

0.925

0.040

73306901

intron variant

C/G

snv

0.22

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs10175478

LINC01122

0.925

0.040

58913731

intron variant

C/A;T

snv

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs10177451

LINC00298

0.925

0.040

7959627

intron variant

G/A

snv

4.5E-02

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs1018597

FAM155A

0.925

0.040

107500213

intron variant

T/C

snv

5.3E-02

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs1019348

LINC02405

0.925

0.040

126918181

intron variant

T/C

snv

5.9E-02

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs10195136

DPP10

0.925

0.040

115797465

intron variant

T/C

snv

6.2E-02

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs10238767

GALNT11

0.925

0.040

152092941

intron variant

G/A

snv

5.9E-02

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs1024036

KIF9

0.925

0.040

47276175

intron variant

T/A;C;G

snv

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs1027341

ZNF438

0.925

0.040

30885574

intron variant

T/A

snv

0.79

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs1027986

LYN

0.925

0.040

55969912

intron variant

A/G

snv

0.44

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs1028911

HULC ; LOC100506207

0.925

0.040

8706288

intron variant

T/C;G

snv

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs10405809

CRX

0.925

0.040

47823958

intron variant

G/A

snv

9.5E-02

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs10409138

MARK4 ; PPP1R37

0.925

0.040

45121045

intron variant

A/G

snv

0.15

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

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018