DisGeNET - a database of gene-disease associations

Source: BEFREE

Disease: Differentiated Thyroid Gland Carcinoma ×

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:

rs113488022

BRAF

0.351

0.840

140753336

missense variant

A/C;G;T

snv

4.0E-06

CUI:	C1337013
Disease:	Differentiated Thyroid Gland Carcinoma

Differentiated Thyroid Gland Carcinoma

0.100

1.000

2008

2019

dbSNP:

rs121913377

BRAF

0.354

0.840

140753335

missense variant

CA/AT;TT

mnv

CUI:	C1337013
Disease:	Differentiated Thyroid Gland Carcinoma

Differentiated Thyroid Gland Carcinoma

0.100

1.000

2008

2019

dbSNP:

rs965513

PTCSC2

0.742

0.200

97793827

intron variant

A/G;T

snv

CUI:	C1337013
Disease:	Differentiated Thyroid Gland Carcinoma

Differentiated Thyroid Gland Carcinoma

0.070

0.714

2014

2018

dbSNP:

rs1799782

XRCC1

0.474

0.800

43553422

missense variant

G/A

snv

9.5E-02

7.0E-02

CUI:	C1337013
Disease:	Differentiated Thyroid Gland Carcinoma

Differentiated Thyroid Gland Carcinoma

0.060

0.833

2009

2016

dbSNP:

rs25487

XRCC1

0.441

0.800

43551574

missense variant

T/C

snv

0.68

0.71

CUI:	C1337013
Disease:	Differentiated Thyroid Gland Carcinoma

Differentiated Thyroid Gland Carcinoma

0.060

0.667

2009

2016

dbSNP:

rs944289

0.742

0.200

36180040

upstream gene variant

C/T

snv

0.45

CUI:	C1337013
Disease:	Differentiated Thyroid Gland Carcinoma

Differentiated Thyroid Gland Carcinoma

0.040

0.750

2014

2018

dbSNP:

rs25489

XRCC1

0.550

0.720

43552260

missense variant

C/G;T

snv

8.5E-06; 7.1E-02

CUI:	C1337013
Disease:	Differentiated Thyroid Gland Carcinoma

Differentiated Thyroid Gland Carcinoma

0.030

1.000

2013

2014

dbSNP:

rs1042522

TP53

0.426

0.800

7676154

missense variant

G/C;T

snv

0.67

CUI:	C1337013
Disease:	Differentiated Thyroid Gland Carcinoma

Differentiated Thyroid Gland Carcinoma

0.020

1.000

2015

dbSNP:

rs1131691014

TP53

0.439

0.800

7676154

frameshift variant

-/C

ins

CUI:	C1337013
Disease:	Differentiated Thyroid Gland Carcinoma

Differentiated Thyroid Gland Carcinoma

0.020

1.000

2015

dbSNP:

rs116909374

0.776

0.120

36269155

regulatory region variant

C/T

snv

2.3E-02

CUI:	C1337013
Disease:	Differentiated Thyroid Gland Carcinoma

Differentiated Thyroid Gland Carcinoma

0.020

< 0.001

2016

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C1337013
Disease:	Differentiated Thyroid Gland Carcinoma

Differentiated Thyroid Gland Carcinoma

0.020

1.000

2011

2012

dbSNP:

rs1447295

CASC8

0.658

0.400

127472793

intron variant

A/C;T

snv

CUI:	C1337013
Disease:	Differentiated Thyroid Gland Carcinoma

Differentiated Thyroid Gland Carcinoma

0.020

0.500

2011

2013

dbSNP:

rs1867277

FOXE1 ; PTCSC2

0.776

0.160

97853632

5 prime UTR variant

A/G

snv

0.63

CUI:	C1337013
Disease:	Differentiated Thyroid Gland Carcinoma

Differentiated Thyroid Gland Carcinoma

0.020

1.000

2015

2018

dbSNP:

rs861539

KLC1 ; XRCC3

0.519

0.680

103699416

missense variant

G/A

snv

0.29

0.30

CUI:	C1337013
Disease:	Differentiated Thyroid Gland Carcinoma

Differentiated Thyroid Gland Carcinoma

0.020

1.000

2014

2016

dbSNP:

rs878854066

TP53

0.439

0.800

7676153

missense variant

GG/AC

mnv

CUI:	C1337013
Disease:	Differentiated Thyroid Gland Carcinoma

Differentiated Thyroid Gland Carcinoma

0.020

1.000

2015

dbSNP:

rs10136427

LOC105370572

0.925

75513546

intergenic variant

C/T

snv

0.21

CUI:	C1337013
Disease:	Differentiated Thyroid Gland Carcinoma

Differentiated Thyroid Gland Carcinoma

0.010

1.000

2014

dbSNP:

rs1057519695

NRAS

0.641

0.520

114713907

missense variant

TT/CA;CC

mnv

CUI:	C1337013
Disease:	Differentiated Thyroid Gland Carcinoma

Differentiated Thyroid Gland Carcinoma

0.010

1.000

2014

dbSNP:

rs1057519834

NRAS

0.658

0.480

114713908

missense variant

TG/CT

mnv

CUI:	C1337013
Disease:	Differentiated Thyroid Gland Carcinoma

Differentiated Thyroid Gland Carcinoma

0.010

1.000

2014

dbSNP:

rs10741657

CYP2R1

0.637

0.520

14893332

upstream gene variant

A/G

snv

0.65

CUI:	C1337013
Disease:	Differentiated Thyroid Gland Carcinoma

Differentiated Thyroid Gland Carcinoma

0.010

1.000

2012

dbSNP:

rs10808556

POU5F1B ; CASC8 ; PCAT1 ; CCAT2

0.925

0.080

127400902

non coding transcript exon variant

C/T

snv

0.50

CUI:	C1337013
Disease:	Differentiated Thyroid Gland Carcinoma

Differentiated Thyroid Gland Carcinoma

0.010

1.000

2013

dbSNP:

rs10877012

CYP27B1 ; METTL1

0.763

0.280

57768302

intron variant

G/C;T

snv

CUI:	C1337013
Disease:	Differentiated Thyroid Gland Carcinoma

Differentiated Thyroid Gland Carcinoma

0.010

1.000

2012

dbSNP:

rs11214077

SDHD ; TIMM8B

0.752

0.120

112087953

missense variant

A/G

snv

6.6E-03

6.7E-03

CUI:	C1337013
Disease:	Differentiated Thyroid Gland Carcinoma

Differentiated Thyroid Gland Carcinoma

0.010

1.000

2017

dbSNP:

rs11554290

NRAS

0.583

0.600

114713908

missense variant

T/A;C;G

snv

CUI:	C1337013
Disease:	Differentiated Thyroid Gland Carcinoma

Differentiated Thyroid Gland Carcinoma

0.010

1.000

2014

dbSNP:

rs1220597

SPATA13

0.925

24243875

intron variant

C/T

snv

0.51

CUI:	C1337013
Disease:	Differentiated Thyroid Gland Carcinoma

Differentiated Thyroid Gland Carcinoma

0.010

1.000

2014

dbSNP:

rs12794714

CYP2R1

0.708

0.360

14892029

synonymous variant

G/A

snv

0.41

0.35

CUI:	C1337013
Disease:	Differentiated Thyroid Gland Carcinoma

Differentiated Thyroid Gland Carcinoma

0.010

1.000

2012