TPO, thyroid peroxidase, 7173

N. diseases: 306; N. variants: 47
Disease: HYPOTHYROIDISM, GOITROUS ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1321809
Disease: HYPOTHYROIDISM, GOITROUS
HYPOTHYROIDISM, GOITROUS 		0.070 GeneticVariation disease BEFREE A Novel Mutation in Thyroid Peroxidase Gene Causing Congenital Goitrous Hypothyroidism in a German-Thai Patient. 26761947 2016
CUI: C1321809
Disease: HYPOTHYROIDISM, GOITROUS
HYPOTHYROIDISM, GOITROUS 		0.070 AlteredExpression disease BEFREE Our previous study showed that this mutation leads to reduced abundance of the TPO protein and loss of TPO enzyme activity in a Malaysian-Chinese family with goitrous hypothyroidism. 25564141 2015
CUI: C1321809
Disease: HYPOTHYROIDISM, GOITROUS
HYPOTHYROIDISM, GOITROUS 		0.070 GeneticVariation disease BEFREE We suggest that thyroid peroxidase (TPO) gene should be analyzed in pseudo-PDS patients with congenital goitrous hypothyroidism and deafness. 21274344 2010
CUI: C1321809
Disease: HYPOTHYROIDISM, GOITROUS
HYPOTHYROIDISM, GOITROUS 		0.070 GeneticVariation disease BEFREE We report a Turkish boy who had goitrous hypothyroidism due to a mutation in the thyroid peroxidase (TPO) gene. 16649969 2006
CUI: C1321809
Disease: HYPOTHYROIDISM, GOITROUS
HYPOTHYROIDISM, GOITROUS 		0.070 GeneticVariation disease BEFREE Intrauterine therapy of goitrous hypothyroidism in a boy with a new compound heterozygous mutation (Y453D and C800R) in the thyroid peroxidase gene. A long-term follow-up. 16150286 2005
CUI: C1321809
Disease: HYPOTHYROIDISM, GOITROUS
HYPOTHYROIDISM, GOITROUS 		0.070 GeneticVariation disease BEFREE Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism. 16284446 2005
CUI: C1321809
Disease: HYPOTHYROIDISM, GOITROUS
HYPOTHYROIDISM, GOITROUS 		0.070 GeneticVariation disease BEFREE Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect. 14751036 2003