Thyroid Dyshormonogenesis 3
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Association of the Asp1312Gly Thyroglobulin Gene Polymorphism with Susceptibility to Differentiated Thyroid Cancer in an Iranian Population
|
28345837 |
2017 |
Thyroid Dyshormonogenesis 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.
|
27305979 |
2016 |
Thyroid Dyshormonogenesis 3
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.
|
27525530 |
2016 |
Thyroid Dyshormonogenesis 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Against all odds: blended phenotypes of three single-gene defects.
|
26813946 |
2016 |
Thyroid Dyshormonogenesis 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism.
|
23164529 |
2013 |
Thyroid Dyshormonogenesis 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A new compound heterozygous for c.886C>T/c.2206C>T [p.R277X/p.Q717X] mutations in the thyroglobulin gene as a cause of foetal goitrous hypothyroidism.
|
21128992 |
2011 |
Thyroid Dyshormonogenesis 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
New insights into thyroglobulin pathophysiology revealed by the study of a family with congenital goiter.
|
20410234 |
2010 |
Thyroid Dyshormonogenesis 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation.
|
19509106 |
2009 |
Thyroid Dyshormonogenesis 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene.
|
17532758 |
2007 |
Thyroid Dyshormonogenesis 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity.
|
17244789 |
2007 |
Thyroid Dyshormonogenesis 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels.
|
16477365 |
2006 |
Thyroid Dyshormonogenesis 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation.
|
15769978 |
2005 |
Thyroid Dyshormonogenesis 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis.
|
14764776 |
2004 |
Thyroid Dyshormonogenesis 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism.
|
10404833 |
1999 |
Thyroid Dyshormonogenesis 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter.
|
10199792 |
1999 |
Thyroid Dyshormonogenesis 3
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|