DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Papillary thyroid 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

rs113488022

BRAF

0.351

0.840

7

140753336

missense variant

A/C;G;T

snv

4.0E-06

CUI:	C0238463
Disease:	Papillary thyroid carcinoma

Papillary thyroid carcinoma

0.800

0.959

2003

2019

dbSNP:

rs121909219

rs121909219

PTEN

0.689

0.400

10

87957915

stop gained

C/A;T

snv

CUI:	C0238463
Disease:	Papillary thyroid carcinoma

Papillary thyroid carcinoma

0.700

dbSNP:

rs751409106

rs751409106

LIG4

1.000

0.080

13

108209596

missense variant

T/C;G

snv

4.0E-06

CUI:	C0238463
Disease:	Papillary thyroid carcinoma

Papillary thyroid carcinoma

0.700

dbSNP:

rs80358683

rs80358683

BRCA2

0.851

0.120

13

32338880

stop gained

C/T

snv

CUI:	C0238463
Disease:	Papillary thyroid carcinoma

Papillary thyroid carcinoma

0.700