SLC16A2, solute carrier family 16 member 2, 6567

N. diseases: 108; N. variants: 30
Disease: Allan-Herndon-Dudley syndrome (AHDS) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		1.000 CausalMutation disease CLINVAR
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		1.000 Biomarker disease CTD_human
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		1.000 GeneticVariation disease UNIPROT Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. 15889350 2005
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		1.000 Biomarker disease CLINGEN Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. 15889350 2005
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		1.000 Biomarker disease GENOMICS_ENGLAND Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. 15889350 2005
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		1.000 GeneticVariation disease BEFREE Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. 15889350 2005
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		1.000 GeneticVariation disease BEFREE Allan-Herndon-Dudley Syndrome (AHDS) is a rare X-linked disorder caused by mutation in the gene encoding the monocarboxylate transporter-8. 18589880 2008
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		1.000 GeneticVariation disease BEFREE Allan-Herndon-Dudley syndrome (AHDS) is a severe genetic disease caused by mutations in the monocarboxylate transporter 8 (MCT8) gene. 31127274 2019
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		1.000 AlteredExpression disease BEFREE MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. 18398436 2008
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		1.000 GeneticVariation disease BEFREE Monocarboxylate transporter 8 (MCT8 or SLC16A2) mutations cause X-linked Allan-Herndon-Dudley syndrome. 21098685 2011
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		1.000 GeneticVariation disease BEFREE MCT8 mutations cause an X-linked syndromic disorder known as Allan-Herndon-Dudley syndrome (AHDS) that is characterized by severe psychomotor delays, abnormal thyroid function, and hypomyelinated leukodystrophies. 25896225 2015
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		1.000 GeneticVariation disease BEFREE MCT8 mutations cause an X-linked condition known as Allan-Herndon-Dudley syndrome and are characterized by impaired psychomotor development and typical abnormal thyroid function. 28742507 2017
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		1.000 GeneticVariation disease UNIPROT A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. 14661163 2004
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		1.000 Biomarker disease CLINGEN A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. 14661163 2004
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		1.000 GeneticVariation disease BEFREE A partial deletion of the MCT8 gene (comprising five of six exons) was detected, confirming the suspected AHDS. 21896621 2011
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		1.000 Biomarker disease BEFREE A three-and-a-half-year-old male with clinical and biochemical AHDS phenotype and a history of normal neonatal screening for hypothyroidism underwent SLC16A2 molecular analysis. 25517855 2015
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		1.000 Biomarker disease MGD Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8. 17318265 2007
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		1.000 Biomarker disease BEFREE As SLC16A2 encodes the monocarboxylate transporter 8 (MCT8), a thyroid hormone transporter, patients with Allan-Herndon-Dudley syndrome present a specific altered thyroid hormone profile. 25380603 2015
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		1.000 Biomarker disease CLINGEN Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. 15488219 2004
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		1.000 GeneticVariation disease UNIPROT Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. 15488219 2004
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		1.000 Biomarker disease GENOMICS_ENGLAND Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. 24847459 2014
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		1.000 GeneticVariation disease UNIPROT Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome. 27805744 2017
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		1.000 GeneticVariation disease BEFREE Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome. 27805744 2017
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		1.000 GeneticVariation disease BEFREE Clinical course and images of four familial cases of Allan-Herndon-Dudley syndrome with a novel monocarboxylate transporter 8 gene mutation. 25160547 2014
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		1.000 GeneticVariation disease BEFREE Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter. 15980113 2006