Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 CausalMutation CLINVAR Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis. 28455095

2017
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 CausalMutation CLINVAR A frequent oligogenic involvement in congenital hypothyroidism. 28444304

2017
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 CausalMutation CLINVAR Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer. 27084275

2016
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 CausalMutation 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
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 CausalMutation CLINVAR DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population. 26709262

2016
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 CausalMutation CLINVAR Frequency and clinical implication of the R450H mutation in the thyrotropin receptor gene in the Japanese population detected by Smart Amplification Process 2. 24895636

2014
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 GeneticVariation CLINVAR The Italian screening program for primary congenital hypothyroidism: actions to improve screening, diagnosis, follow-up, and surveillance. 23404215

2013
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 CausalMutation CLINVAR R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children. 22405933

2012
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 CausalMutation CLINVAR Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake. 21677043

2011
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 CausalMutation 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
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 CausalMutation 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
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 CausalMutation CLINVAR 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
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 CausalMutation CLINVAR Longitudinal evaluation of patients with a homozygous R450H mutation of the TSH receptor gene. 19506388

2009
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 CausalMutation CLINVAR Genetic analysis in children with transient thyroid dysfunction or subclinical hypothyroidism detected on neonatal screening. 23926367

2009
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 CausalMutation CLINVAR Clinical significance of heterozygous carriers associated with compensated hypothyroidism in R450H, a common inactivating mutation of the thyrotropin receptor gene in Japanese. 17526952

2006
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 CausalMutation CLINVAR Subclinical hypothyroidism caused by a mutation of the thyrotropin receptor gene. 15693879

2005
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 CausalMutation CLINVAR Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin. 11442002

2001
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 GeneticVariation CLINVAR

Entrez Id: 50506
Gene Symbol: DUOX2
DUOX2
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 CausalMutation CLINVAR

Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.100 CausalMutation CLINVAR

Entrez Id: 81027
Gene Symbol: TUBB1
TUBB1
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.100 CausalMutation CLINVAR

Entrez Id: 2782
Gene Symbol: GNB1
GNB1
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.100 CausalMutation CLINVAR