|
Thyroid Dyshormonogenesis 3
|
|
0.700 |
GeneticVariation
|
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 |
GeneticVariation
|
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
|
UNIPROT |
Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene.
|
17532758 |
2007 |
|
Thyroid Dyshormonogenesis 3
|
|
0.700 |
GeneticVariation
|
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
|
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 |
GeneticVariation
|
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 |
|
Congenital Hypothyroidism
|
|
0.030 |
GeneticVariation
|
BEFREE |
We have studied UPR development in two similar ERSDs, human congenital goiter caused by the C1264R and C1996S mutations in the thyroglobulin (Tg) gene and non-goitrous congenital hypothyroidism in rdw dwarf rats determined by the G2320R Tg mutation.
|
15171721 |
2004 |
|
Congenital Hypothyroidism
|
|
0.030 |
GeneticVariation
|
BEFREE |
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 |
|
Congenital Hypothyroidism
|
|
0.030 |
GeneticVariation
|
BEFREE |
Missense mutation (C1263R) in the thyroglobulin gene causes congenital goiter with mild hypothyroidism by impaired intracellular transport.
|
9790265 |
1998 |
|
Congenital goiter
|
|
0.020 |
GeneticVariation
|
BEFREE |
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 |
|
Congenital goiter
|
|
0.020 |
GeneticVariation
|
BEFREE |
Missense mutation (C1263R) in the thyroglobulin gene causes congenital goiter with mild hypothyroidism by impaired intracellular transport.
|
9790265 |
1998 |
|
Dwarfism
|
|
0.010 |
GeneticVariation
|
BEFREE |
We have studied UPR development in two similar ERSDs, human congenital goiter caused by the C1264R and C1996S mutations in the thyroglobulin (Tg) gene and non-goitrous congenital hypothyroidism in rdw dwarf rats determined by the G2320R Tg mutation.
|
15171721 |
2004 |
|
Adenomatous goiter
|
|
0.010 |
GeneticVariation
|
BEFREE |
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 |
|
Hypothyroidism
|
|
0.010 |
GeneticVariation
|
BEFREE |
Missense mutation (C1263R) in the thyroglobulin gene causes congenital goiter with mild hypothyroidism by impaired intracellular transport.
|
9790265 |
1998 |