Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.800 GeneticVariation disease BEFREE Mutations in TSH receptor (TSHR) are associated with TSH resistance, a genetic defect characterized by a heterogeneous phenotype ranging from severe hypothyroidism to subclinical hypothyroidism (SCH). 28561265 2017
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.800 CausalMutation disease CLINVAR Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients. 27637299 2016
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.800 Biomarker disease GENOMICS_ENGLAND Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ. 27525530 2016
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.800 GeneticVariation disease CLINVAR Poorly Controlled Congenital Hypothyroidism due to an Underlying Allgrove Syndrome. 27255745 2016
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.800 GeneticVariation disease UNIPROT Loss-of-Function Variants in a Hungarian Cohort Reveal Structural Insights on TSH Receptor Maturation and Signaling. 25978107 2015
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.800 GeneticVariation disease BEFREE Complete TSH resistance due to biallelic LOF TSHR mutations must be suspected in all patients with severe not syndromic CH and severe thyroid hypoplasia diagnosed at birth by neonatal screening. 23154162 2013
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.800 GeneticVariation disease BEFREE The second one had a neonatal persistent moderate TSH levels increase associated with a thyroid gland hypoplasia and was treated with L-T4 since the first months of life.These two cases support the recent association of TSH-R mutations inheritance as an autosomal dominant pattern with variable expressivity and suggest that the decision to start replacement therapy in patients with persistent SH due to TSH resistance should be individualized. 23332130 2013
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.800 CausalMutation disease CLINVAR TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis. 22876533 2012
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.800 CausalMutation disease CLINVAR R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children. 22405933 2012
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.800 GeneticVariation disease CLINVAR TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis. 22876533 2012
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.800 GeneticVariation disease BEFREE Nonpolymorphic alterations in the TSHR gene are commonly associated with isolated NAHT in young patients, thus configuring partial TSH resistance as the most frequent inheritable cause of isolated NAHT. 22049173 2012
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.800 GeneticVariation disease BEFREE Inactivating mutations in the TSH receptor gene (TSHR) cause TSH resistance. 21677043 2011
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.800 GeneticVariation disease BEFREE We describe a family with TSH resistance and CH bearing a combination of inactivating mutations in TSHR and GNAS genes. 21186955 2011
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.800 CausalMutation disease CLINVAR Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake. 21677043 2011
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.800 CausalMutation disease CLINVAR Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism. 21707688 2011
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.800 GeneticVariation disease CLINVAR Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism. 20718767 2010
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.800 CausalMutation disease CLINVAR The R450H mutation and D727E polymorphism of the thyrotropin receptor gene in a Chinese child with congenital hypothyroidism. 21714469 2010
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.800 GeneticVariation disease BEFREE Naturally occurring activating and inactivating mutations of the thyrotropin receptor (TSHR) were found as a molecular cause of diseases in patients suffering from non-autoimmune hyperthyroidism and syndromes of thyrotropin resistance, respectively. 20515734 2010
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.800 GermlineCausalMutation disease ORPHANET Congenital hypothyroidism. 20537182 2010
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.800 GeneticVariation disease BEFREE Mutations in TSH receptor (TSHR) are notoriously associated with congenital hypothyroidism as well as with non-autoimmune subclinical hypothyroidism, a mild form of TSH resistance that is not as well characterized by diagnostic procedures. 19820021 2009
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.800 GermlineCausalMutation disease ORPHANET TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study. 19158199 2009
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.800 CausalMutation disease CLINVAR Longitudinal evaluation of patients with a homozygous R450H mutation of the TSH receptor gene. 19506388 2009
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.800 GeneticVariation disease BEFREE These observations suggest that the R450H mutation is a commonly observed TSH receptor mutation in patients with TSH resistance in Japan. 16756469 2006
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.800 CausalMutation disease CLINVAR Subclinical hypothyroidism caused by a mutation of the thyrotropin receptor gene. 15693879 2005
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.800 GeneticVariation disease BEFREE To date, 23 inactivating mutations of the TSH receptor (TSHR) gene have been proven responsible for the clinical condition, but an absence of mutations in the TSHR gene has been reported for several cases of TSH resistance as well. 16060907 2005