×
Entrez Id:
7253
Gene Symbol:
TSHR
TSHR
0.900
CausalMutation
disease
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
0.900
CausalMutation
disease
CLINVAR
Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin.
11442002
2001
×
Entrez Id:
7253
Gene Symbol:
TSHR
TSHR
0.900
CausalMutation
disease
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
0.900
CausalMutation
disease
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
0.900
CausalMutation
disease
CLINVAR
Subclinical hypothyroidism caused by a mutation of the thyrotropin receptor gene.
15693879
2005
×
Entrez Id:
7253
Gene Symbol:
TSHR
TSHR
0.900
CausalMutation
disease
CLINVAR
R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children.
22405933
2012
×
Entrez Id:
7253
Gene Symbol:
TSHR
TSHR
0.900
CausalMutation
disease
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
0.900
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
0.900
CausalMutation
disease
CLINVAR
DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population.
26709262
2016
×
Entrez Id:
50506
Gene Symbol:
DUOX2
DUOX2
0.900
CausalMutation
disease
CLINVAR
×
Entrez Id:
7253
Gene Symbol:
TSHR
TSHR
0.900
CausalMutation
disease
CLINVAR
A frequent oligogenic involvement in congenital hypothyroidism.
28444304
2017
×
Entrez Id:
7253
Gene Symbol:
TSHR
TSHR
0.900
CausalMutation
disease
CLINVAR
Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake.
21677043
2011
×
Entrez Id:
7253
Gene Symbol:
TSHR
TSHR
0.900
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
0.900
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
0.900
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
0.900
CausalMutation
disease
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
0.900
CausalMutation
disease
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:
23394
Gene Symbol:
ADNP
ADNP
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
81027
Gene Symbol:
TUBB1
TUBB1
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
2782
Gene Symbol:
GNB1
GNB1
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
7253
Gene Symbol:
TSHR
TSHR
0.900
AlteredExpression
disease
BEFREE
Genes associated with thyroid gland dysgenesis include the TSH receptor in non-syndromic congenital hypothyroidism , and Gsalpha and the thyroid transcription factors (TTF-1, TTF-2, and Pax-8), associated with different complex syndromes that include congenital hypothyroidism .
15863666
2005
×
Entrez Id:
7173
Gene Symbol:
TPO
TPO
0.900
AlteredExpression
disease
BEFREE
Differential levels of thyroid peroxidase and thyroglobulin messenger ribonucleic acids in congenital goiter with defective thyroglobulin synthesis.
2096156
1990
×
Entrez Id:
7849
Gene Symbol:
PAX8
PAX8
0.700
AlteredExpression
disease
BEFREE
The persistent CH in this patient with DS is likely to be attributable to the diminished PAX8 expression due to a new heterozygous mutation in the PAX8 promoter sequence.
24499175
2014
×
Entrez Id:
7038
Gene Symbol:
TG
TG
0.600
AlteredExpression
disease
BEFREE
Differential levels of thyroid peroxidase and thyroglobulin messenger ribonucleic acids in congenital goiter with defective thyroglobulin synthesis.
2096156
1990
×
Entrez Id:
7038
Gene Symbol:
TG
TG
0.600
AlteredExpression
disease
BEFREE
Normal level of thyroglobulin messenger ribonucleic acid in a human congenital goiter with thyroglobulin deficiency.
3745406
1986