DisGeNET - a database of gene-disease associations

rs2476601, AP4B1-AS1;PTPN22

N. diseases: 13

Disease: Hypothyroidism ×

Source: GWASDB ×

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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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Hypothyroidism

CUI:	C0020676
Disease:	Hypothyroidism

0.800

GeneticVariation

GWASDB

Novel associations for hypothyroidism include known autoimmune risk loci.

2012