rs122455132, SLC16A2

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Allan-Herndon-Dudley syndrome (AHDS)
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
0.800 GeneticVariation UNIPROT Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome. 27805744 2017
Allan-Herndon-Dudley syndrome (AHDS)
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
0.800 GeneticVariation UNIPROT Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation. 26426690 2015
Allan-Herndon-Dudley syndrome (AHDS)
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
0.800 GeneticVariation UNIPROT Modulation of monocarboxylate transporter 8 oligomerization by specific pathogenic mutations. 25527620 2015
Allan-Herndon-Dudley syndrome (AHDS)
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
0.800 GeneticVariation UNIPROT Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene. 25380603 2015
Allan-Herndon-Dudley syndrome (AHDS)
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
0.800 GeneticVariation UNIPROT Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution. 23550058 2013
Allan-Herndon-Dudley syndrome (AHDS)
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
0.800 GeneticVariation UNIPROT Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations. 18636565 2009
Allan-Herndon-Dudley syndrome (AHDS)
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
0.800 GeneticVariation UNIPROT Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. 15889350 2005
Allan-Herndon-Dudley syndrome (AHDS)
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
0.800 GeneticVariation UNIPROT A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. 14661163 2004
Allan-Herndon-Dudley syndrome (AHDS)
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
0.800 GeneticVariation UNIPROT Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. 15488219 2004
Allan-Herndon-Dudley syndrome (AHDS)
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
0.800 CausalMutation CLINVAR
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
0.700 CausalMutation CLINVAR