SLC16A2, solute carrier family 16 member 2, 6567

N. diseases: 108; N. variants: 30
Disease: Thyroid Hormone Resistance Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2940786
Disease: Thyroid Hormone Resistance Syndrome
Thyroid Hormone Resistance Syndrome 		0.030 GeneticVariation disease BEFREE Novel mutation in MCT8 gene in a Brazilian boy with thyroid hormone resistance and severe neurologic abnormalities. 21468521 2011
CUI: C2940786
Disease: Thyroid Hormone Resistance Syndrome
Thyroid Hormone Resistance Syndrome 		0.030 GeneticVariation disease BEFREE Thus, mutations in MCT8 represent a novel mechanism for the pathogenesis of thyroid hormone resistance. 18174701 2007
CUI: C2940786
Disease: Thyroid Hormone Resistance Syndrome
Thyroid Hormone Resistance Syndrome 		0.030 GeneticVariation disease BEFREE Mutational analysis of the MCT8 gene revealed mutations or deletions in the MCT8 gene in unrelated male patients with severe psychomotor retardation and biochemical findings consistent with thyroid hormone resistance. 17684393 2007