Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune
0.800 GeneticVariation UNIPROT Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation. 15163335

2004

Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune
0.800 GeneticVariation UNIPROT A novel germline mutation in the TSH receptor gene causes non-autoimmune autosomal dominant hyperthyroidism. 11517004

2001

Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune
0.800 GeneticVariation UNIPROT The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism. 11549687

2001

Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune
0.800 GeneticVariation UNIPROT Sporadic nonautoimmune congenital hyperthyroidism due to a strong activating mutation of the thyrotropin receptor gene. 11081252

2000

Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune
0.800 GeneticVariation UNIPROT Constitutively activating TSH-receptor mutations as a molecular cause of non-autoimmune hyperthyroidism in childhood. 11127522

2000

Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune
0.800 GeneticVariation UNIPROT Activating thyrotropin receptor mutations are present in nonadenomatous hyperfunctioning nodules of toxic or autonomous multinodular goiter. 10852462

2000

Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune
0.800 GeneticVariation UNIPROT Novel TSHR germline mutation (Met463Val) masquerading as Graves' disease in a large Welsh kindred with hyperthyroidism. 11201847

2000

Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune
0.800 GeneticVariation UNIPROT A germline mutation of the thyrotropin receptor gene associated with thyrotoxicosis and mitral valve prolapse in a Chinese family. 10199795

1999

Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune
0.800 GeneticVariation UNIPROT Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor. 9589634

1998

Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune
0.800 GeneticVariation UNIPROT Identification of a new thyrotropin receptor germline mutation (Leu629Phe) in a family with neonatal onset of autosomal dominant nonautoimmune hyperthyroidism. 9398746

1997

Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune
0.800 GeneticVariation UNIPROT Congenital nonautoimmune hyperthyroidism in a nonidentical twin caused by a sporadic germline mutation in the thyrotropin receptor gene. 9349581

1997

Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune
0.800 GeneticVariation UNIPROT Sporadic congenital hyperthyroidism due to a spontaneous germline mutation in the thyrotropin receptor gene. 9360555

1997

Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune
0.800 GeneticVariation UNIPROT A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism. 8964822

1996

Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune
0.800 GeneticVariation UNIPROT Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia. 8636266

1996

Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune
0.800 GeneticVariation UNIPROT Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene. 7800007

1995

Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune
0.800 GeneticVariation UNIPROT Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism. 7920658

1994