DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Metabolic Syndrome X ×

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:

rs1000283

HSD11B1 ; HSD11B1-AS1

0.925

0.080

209721316

intron variant

G/A

snv

0.18

CUI:	C0524620
Disease:	Metabolic Syndrome X

Metabolic Syndrome X

0.010

1.000

2011

dbSNP:

rs10010131

WFS1

0.827

0.120

6291188

intron variant

A/G

snv

0.66

0.63

CUI:	C0524620
Disease:	Metabolic Syndrome X

Metabolic Syndrome X

0.010

1.000

2008

dbSNP:

rs10033652

RASGEF1B

1.000

0.040

81571913

intron variant

C/T

snv

0.62

CUI:	C0524620
Disease:	Metabolic Syndrome X

Metabolic Syndrome X

0.010

1.000

2019

dbSNP:

rs1003880422

0.925

0.080

2166716

missense variant

G/A;T

snv

6.9E-06

CUI:	C0524620
Disease:	Metabolic Syndrome X

Metabolic Syndrome X

0.010

< 0.001

2010

dbSNP:

rs10052957

NR3C1

0.851

0.160

143407136

non coding transcript exon variant

G/A

snv

0.28

CUI:	C0524620
Disease:	Metabolic Syndrome X

Metabolic Syndrome X

0.010

1.000

2014

dbSNP:

rs1007888

MIF-AS1

0.882

0.120

23898914

non coding transcript exon variant

C/T

snv

0.46

CUI:	C0524620
Disease:	Metabolic Syndrome X

Metabolic Syndrome X

0.010

1.000

2011

dbSNP:

rs10085637

PDK4 ; LOC107986824

1.000

0.040

95596501

5 prime UTR variant

T/C;G

snv

0.40

CUI:	C0524620
Disease:	Metabolic Syndrome X

Metabolic Syndrome X

0.010

1.000

2012

dbSNP:

rs10096633

1.000

0.040

19973410

regulatory region variant

C/T

snv

0.22

CUI:	C0524620
Disease:	Metabolic Syndrome X

Metabolic Syndrome X

0.010

1.000

2014

dbSNP:

rs10185316

INSIG2 ; LOC107985940

1.000

0.040

118086902

upstream gene variant

C/G

snv

0.32

CUI:	C0524620
Disease:	Metabolic Syndrome X

Metabolic Syndrome X

0.010

1.000

2012

dbSNP:

rs102275

TMEM258

0.827

0.320

61790331

non coding transcript exon variant

T/C

snv

0.47

CUI:	C0524620
Disease:	Metabolic Syndrome X

Metabolic Syndrome X

0.800

1.000

2010

dbSNP:

rs10247649

PDK4

0.925

0.080

95586935

non coding transcript exon variant

A/G

snv

0.43

CUI:	C0524620
Disease:	Metabolic Syndrome X

Metabolic Syndrome X

0.010

1.000

2012

dbSNP:

rs1040288

NR3C2

1.000

0.040

148126966

intron variant

G/C

snv

0.49

CUI:	C0524620
Disease:	Metabolic Syndrome X

Metabolic Syndrome X

0.010

1.000

2011

dbSNP:

rs1041981

LTA ; LOC100287329

0.667

0.520

31573007

missense variant

C/A

snv

0.35

0.38

CUI:	C0524620
Disease:	Metabolic Syndrome X

Metabolic Syndrome X

0.010

1.000

2005

dbSNP:

rs1042713

ADRB2

0.576

0.800

148826877

missense variant

G/A

snv

0.42

0.43

CUI:	C0524620
Disease:	Metabolic Syndrome X

Metabolic Syndrome X

0.010

1.000

2013

dbSNP:

rs1042714

ADRB2

0.597

0.640

148826910

stop gained

G/C;T

snv

0.68

CUI:	C0524620
Disease:	Metabolic Syndrome X

Metabolic Syndrome X

0.010

1.000

2013

dbSNP:

rs1044250

ANGPTL4

0.807

0.240

8371280

missense variant

C/T

snv

0.30

0.29

CUI:	C0524620
Disease:	Metabolic Syndrome X

Metabolic Syndrome X

0.010

1.000

2016

dbSNP:

rs10468017

ALDH1A2

0.851

0.120

58386313

intron variant

C/T

snv

0.24

CUI:	C0524620
Disease:	Metabolic Syndrome X

Metabolic Syndrome X

0.800

1.000

2011

dbSNP:

rs10484092

FRMD6 ; FRMD6-AS2

1.000

0.040

51489516

intron variant

A/G

snv

4.8E-02

CUI:	C0524620
Disease:	Metabolic Syndrome X

Metabolic Syndrome X

0.700

1.000

2019

dbSNP:

rs10488698

BUD13

1.000

0.040

116763231

missense variant

G/A

snv

6.4E-02

4.8E-02

CUI:	C0524620
Disease:	Metabolic Syndrome X

Metabolic Syndrome X

0.010

1.000

2017

dbSNP:

rs1049353

CNR1

0.630

0.600

88143916

synonymous variant

C/T

snv

0.21

0.20

CUI:	C0524620
Disease:	Metabolic Syndrome X

Metabolic Syndrome X

0.020

1.000

2010

2011

dbSNP:

rs1049673

CD36

0.807

0.160

80677034

3 prime UTR variant

C/G;T

snv

CUI:	C0524620
Disease:	Metabolic Syndrome X

Metabolic Syndrome X

0.010

1.000

2010

dbSNP:

rs10499859

CD36

0.925

0.120

80629494

intron variant

A/G

snv

0.46

CUI:	C0524620
Disease:	Metabolic Syndrome X

Metabolic Syndrome X

0.010

1.000

2012

dbSNP:

rs10503669

0.925

0.080

19990179

intergenic variant

C/A

snv

8.4E-02

CUI:	C0524620
Disease:	Metabolic Syndrome X

Metabolic Syndrome X

0.700

1.000

2018

dbSNP:

rs1051295

KCNB1 ; LOC105372649

0.925

0.080

49372368

3 prime UTR variant

A/G

snv

0.22

CUI:	C0524620
Disease:	Metabolic Syndrome X

Metabolic Syndrome X

0.010

1.000

2015

dbSNP:

rs1051931

PLA2G7

0.708

0.400

46705206

missense variant

A/G

snv

0.81

0.79

CUI:	C0524620
Disease:	Metabolic Syndrome X

Metabolic Syndrome X

0.010

1.000

2006