DisGeNET - a database of gene-disease associations

Source: GWASCAT

Disease: Hypothyroidism ×

Gene: ATXN2 ×

Results per page

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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	6311
Gene Symbol:	ATXN2

ATXN2

CUI:	C0020676
Disease:	Hypothyroidism

Hypothyroidism

0.100

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

Entrez Id:	6311
Gene Symbol:	ATXN2

ATXN2

CUI:	C0020676
Disease:	Hypothyroidism

Hypothyroidism

0.100

GeneticVariation

GWASCAT

Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation.

30367059

2018

Entrez Id:	6311
Gene Symbol:	ATXN2

ATXN2

CUI:	C0020676
Disease:	Hypothyroidism

Hypothyroidism

0.100

GeneticVariation

GWASCAT

Detection and interpretation of shared genetic influences on 42 human traits.

27182965

2016

Entrez Id:	6311
Gene Symbol:	ATXN2

ATXN2

CUI:	C0020676
Disease:	Hypothyroidism

Hypothyroidism

0.100

GeneticVariation

GWASCAT

Novel associations for hypothyroidism include known autoimmune risk loci.

22493691

2012