Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
0.740 CausalMutation CLINVAR Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin. 11442002 2001
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
0.740 CausalMutation CLINVAR Subclinical hypothyroidism caused by a mutation of the thyrotropin receptor gene. 15693879 2005
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
0.740 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
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
0.740 CausalMutation CLINVAR Longitudinal evaluation of patients with a homozygous R450H mutation of the TSH receptor gene. 19506388 2009
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
0.740 CausalMutation CLINVAR Genetic analysis in children with transient thyroid dysfunction or subclinical hypothyroidism detected on neonatal screening. 23926367 2009
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
0.740 CausalMutation CLINVAR In Japan, TSHR mutations are relatively common among patients with CH, and a founder mutation (p.R450H) accounts for about 70% of mutants. 19158199 2009
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
0.740 CausalMutation CLINVAR Homozygous mutation R450H of the TSHR gene led to CH. 21714469 2010
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
0.740 GeneticVariation BEFREE Homozygous mutation R450H of the TSHR gene led to CH. 21714469 2010
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
0.740 CausalMutation CLINVAR Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake. 21677043 2011
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
0.740 CausalMutation CLINVAR Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism. 21707688 2011
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
0.740 GeneticVariation BEFREE Approximately 7% of the patients in this study with CHT had heterozygous or homozygous TSHR mutations (c.1349G>A, p.R450H). 22405933 2012
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
0.740 CausalMutation CLINVAR The frequency of homozygous p.R450H in the CHT patients was 1.4% and that of heterozygous p.R450H was 5.6%. 22405933 2012
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
0.740 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
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
0.740 GeneticVariation BEFREE He needed levothyroxine (l-T4) replacement therapy to keep serum TSH levels within normal limits; l-T4 dose of 2.01-2.65 μg/kg/day corresponded to the dose taken by children homozygous for R450H-TSHR and by children with permanent congenital hypothyroidism. 25928756 2015
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
0.740 CausalMutation CLINVAR Seven different recurrent mutations [p.G488R (n=13), p.A649E (n=3), p.R885Q (n=3), p.I1080T (n=2), and p.A1206T (n=2) in DUOX2; p.Y138X (n=9) in DUOXA2; and p.R450H (n=5) in TSHR) were identified as the mutations underlying CH. 26709262 2016
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
0.740 CausalMutation CLINVAR Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer. 27084275 2016
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
0.740 CausalMutation CLINVAR The previously reported hotspot mutation p.R450H was found in only one SCH patient. 27637299 2016
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
0.740 GeneticVariation BEFREE Seven different recurrent mutations [p.G488R (n=13), p.A649E (n=3), p.R885Q (n=3), p.I1080T (n=2), and p.A1206T (n=2) in DUOX2; p.Y138X (n=9) in DUOXA2; and p.R450H (n=5) in TSHR) were identified as the mutations underlying CH. 26709262 2016
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
0.740 CausalMutation CLINVAR A frequent oligogenic involvement in congenital hypothyroidism. 28444304 2017
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
0.740 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