DisGeNET - a database of gene-disease associations

Hypothyroidism, C0020676

Variant: rs2277923 ×

Source: ALL

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs2277923

rs2277923

NKX2-5

0.010

GeneticVariation

BEFREE

We identified two known variations 73C>T (R25C) and 63A>G (E21E) in patients with thyroid hypothyroidism.

2017