DisGeNET - a database of gene-disease associations

Generalized Thyroid Hormone Resistance, C4722330

Variant: rs1436503012 ×

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:

rs1436503012

rs1436503012

TXNRD2

0.010

GeneticVariation

BEFREE

We report the first case of a woman with RTH, which was found to be caused by a missense mutation (V349M) in the TR beta gene.

2008