DisGeNET - a database of gene-disease associations

Goiter, C0018021

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	207
Gene Symbol:	AKT1

AKT1

0.100

Biomarker

phenotype

HPO

Entrez Id:	4578
Gene Symbol:	TRNW

TRNW

0.100

Biomarker

phenotype

HPO

Entrez Id:	100144748
Gene Symbol:	KLLN

KLLN

0.100

Biomarker

phenotype

HPO

Entrez Id:	10483
Gene Symbol:	SEC23B

SEC23B

0.100

Biomarker

phenotype

HPO

Entrez Id:	291
Gene Symbol:	SLC25A4

SLC25A4

0.100

Biomarker

phenotype

HPO

Entrez Id:	3766
Gene Symbol:	KCNJ10

KCNJ10

0.100

Biomarker

phenotype

HPO

Entrez Id:	4540
Gene Symbol:	ND5

ND5

0.100

Biomarker

phenotype

HPO

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

0.100

Biomarker

phenotype

HPO

Entrez Id:	64072
Gene Symbol:	CDH23

CDH23

0.100

Biomarker

phenotype

HPO

Entrez Id:	5290
Gene Symbol:	PIK3CA

PIK3CA

0.100

Biomarker

phenotype

HPO

Entrez Id:	4512
Gene Symbol:	COX1

COX1

0.100

Biomarker

phenotype

HPO

Entrez Id:	4574
Gene Symbol:	TRNS1

TRNS1

0.100

Biomarker

phenotype

HPO

Entrez Id:	3418
Gene Symbol:	IDH2

IDH2

0.100

Biomarker

phenotype

HPO

Entrez Id:	3417
Gene Symbol:	IDH1

IDH1

0.100

Biomarker

phenotype

HPO

Entrez Id:	4558
Gene Symbol:	TRNF

TRNF

0.100

Biomarker

phenotype

HPO

Entrez Id:	4564
Gene Symbol:	TRNH

TRNH

0.100

Biomarker

phenotype

HPO

Entrez Id:	100134444
Gene Symbol:	KCNJ18

KCNJ18

0.100

Biomarker

phenotype

HPO

Entrez Id:	11232
Gene Symbol:	POLG2

POLG2

0.100

Biomarker

phenotype

HPO

Entrez Id:	2304
Gene Symbol:	FOXE1

FOXE1

0.100

Biomarker

phenotype

HPO

Entrez Id:	2778
Gene Symbol:	GNAS

GNAS

0.100

Biomarker

phenotype

HPO

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

0.100

Biomarker

phenotype

HPO

Entrez Id:	5428
Gene Symbol:	POLG

POLG

0.100

Biomarker

phenotype

HPO

Entrez Id:	2299
Gene Symbol:	FOXI1

FOXI1

0.100

Biomarker

phenotype

HPO

Entrez Id:	28
Gene Symbol:	ABO

ABO

0.010

Biomarker

phenotype

BEFREE

Evidence for an association between ABO blood group and goitre.

939553

1976

Entrez Id:	7200
Gene Symbol:	TRH

TRH

0.020

Biomarker

phenotype

BEFREE

The patients who were euthyroid with large goitres and normal hearing had elevated total T3 and an exaggerated TSH response to TRH.

509742

1979