DisGeNET - a database of gene-disease associations

Source: BEFREE

Disease: Malignant neoplasm of ovary ×

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:

rs4680

COMT ; MIR4761

0.442

0.920

19963748

missense variant

G/A

snv

0.46

0.44

CUI:	C1140680
Disease:	Malignant neoplasm of ovary

Malignant neoplasm of ovary

0.030

0.667

2014

2015

dbSNP:

rs5918

ITGB3

0.683

0.480

47283364

missense variant

T/C

snv

0.12

0.13

CUI:	C1140680
Disease:	Malignant neoplasm of ovary

Malignant neoplasm of ovary

0.030

0.667

2005

2010

dbSNP:

rs61764370

KRAS

0.662

0.320

25207290

3 prime UTR variant

A/C

snv

6.2E-02

CUI:	C1140680
Disease:	Malignant neoplasm of ovary

Malignant neoplasm of ovary

0.030

1.000

2010

2011

dbSNP:

rs861539

KLC1 ; XRCC3

0.519

0.680

103699416

missense variant

G/A

snv

0.29

0.30

CUI:	C1140680
Disease:	Malignant neoplasm of ovary

Malignant neoplasm of ovary

0.030

0.667

2014

2016

dbSNP:

rs10069690

TERT

0.595

0.560

1279675

intron variant

C/T

snv

0.36

CUI:	C1140680
Disease:	Malignant neoplasm of ovary

Malignant neoplasm of ovary

0.020

1.000

2015

2016

dbSNP:

rs1045485

CASP8

0.637

0.480

201284866

missense variant

G/A;C;T

snv

4.0E-06; 9.0E-02

CUI:	C1140680
Disease:	Malignant neoplasm of ovary

Malignant neoplasm of ovary

0.020

1.000

2010

dbSNP:

rs1048943

CYP1A1

0.533

0.720

74720644

missense variant

T/A;C;G

snv

0.11

5.9E-02

CUI:	C1140680
Disease:	Malignant neoplasm of ovary

Malignant neoplasm of ovary

0.020

1.000

2012

dbSNP:

rs1051740

EPHX1

0.592

0.760

225831932

missense variant

T/C

snv

0.32

0.27

CUI:	C1140680
Disease:	Malignant neoplasm of ovary

Malignant neoplasm of ovary

0.020

1.000

2001

2019

dbSNP:

rs1131691014

TP53

0.439

0.800

7676154

frameshift variant

-/C

ins

CUI:	C1140680
Disease:	Malignant neoplasm of ovary

Malignant neoplasm of ovary

0.020

1.000

2012

2015

dbSNP:

rs1136201

ERBB2

0.645

0.280

39723335

missense variant

A/G;T

snv

0.20

CUI:	C1140680
Disease:	Malignant neoplasm of ovary

Malignant neoplasm of ovary

0.020

0.500

2016

2018

dbSNP:

rs11571833

BRCA2

0.608

0.360

32398489

stop gained

A/T

snv

6.6E-03

6.0E-03

CUI:	C1140680
Disease:	Malignant neoplasm of ovary

Malignant neoplasm of ovary

0.020

1.000

2016

2018

dbSNP:

rs121913529

KRAS

0.492

0.680

25245350

missense variant

C/A;G;T

snv

4.0E-06

CUI:	C1140680
Disease:	Malignant neoplasm of ovary

Malignant neoplasm of ovary

0.020

1.000

2010

2011

dbSNP:

rs1463038513

APC

0.658

0.440

112839511

frameshift variant

TAAA/-

delins

CUI:	C1140680
Disease:	Malignant neoplasm of ovary

Malignant neoplasm of ovary

0.020

1.000

1997

1998

dbSNP:

rs1799782

XRCC1

0.474

0.800

43553422

missense variant

G/A

snv

9.5E-02

7.0E-02

CUI:	C1140680
Disease:	Malignant neoplasm of ovary

Malignant neoplasm of ovary

0.020

1.000

2013

2015

dbSNP:

rs1800449

LOX

0.641

0.400

122077513

missense variant

C/A;T

snv

4.0E-06; 0.17

CUI:	C1140680
Disease:	Malignant neoplasm of ovary

Malignant neoplasm of ovary

0.020

1.000

2012

dbSNP:

rs1801133

MTHFR

0.472

0.880

11796321

missense variant

G/A

snv

0.31

0.27

CUI:	C1140680
Disease:	Malignant neoplasm of ovary

Malignant neoplasm of ovary

0.020

0.500

2012

2014

dbSNP:

rs2066827

CDKN1B ; GPR19

0.695

0.320

12718165

missense variant

T/A;C;G

snv

1.6E-04; 1.6E-05; 0.26

CUI:	C1140680
Disease:	Malignant neoplasm of ovary

Malignant neoplasm of ovary

0.020

1.000

2013

2015

dbSNP:

rs2660753

0.790

0.240

87061524

intergenic variant

T/C

snv

0.76

CUI:	C1140680
Disease:	Malignant neoplasm of ovary

Malignant neoplasm of ovary

0.020

0.500

2008

2011

dbSNP:

rs2910164

MIR146A ; MIR3142HG

0.447

0.880

160485411

mature miRNA variant

C/G

snv

0.71; 4.1E-06

0.70

CUI:	C1140680
Disease:	Malignant neoplasm of ovary

Malignant neoplasm of ovary

0.020

0.500

2008

2012

dbSNP:

rs3020450

ESR2

0.807

0.200

64301584

splice region variant

C/A;T

snv

CUI:	C1140680
Disease:	Malignant neoplasm of ovary

Malignant neoplasm of ovary

0.020

1.000

2018

2019

dbSNP:

rs387906659

AKT2

0.742

0.280

40257052

stop gained

C/A;T

snv

CUI:	C1140680
Disease:	Malignant neoplasm of ovary

Malignant neoplasm of ovary

0.020

1.000

2007

2008

dbSNP:

rs4320932

IGF2 ; INS-IGF2

0.882

0.120

2150371

intron variant

T/C

snv

0.19

CUI:	C1140680
Disease:	Malignant neoplasm of ovary

Malignant neoplasm of ovary

0.020

1.000

2011

2013

dbSNP:

rs495139

ENOSF1

0.882

0.120

676008

intron variant

G/C

snv

0.63

CUI:	C1140680
Disease:	Malignant neoplasm of ovary

Malignant neoplasm of ovary

0.020

1.000

2010

2018

dbSNP:

rs56307747

ELN ; ELN-AS1

0.776

0.160

74059952

missense variant

G/A;C

snv

4.0E-06

CUI:	C1140680
Disease:	Malignant neoplasm of ovary

Malignant neoplasm of ovary

0.020

1.000

2012

dbSNP:

rs6166

FSHR

0.708

0.240

48962782

missense variant

C/T

snv

0.57

CUI:	C1140680
Disease:	Malignant neoplasm of ovary

Malignant neoplasm of ovary

0.020

1.000

2009

2014