SLC16A2, solute carrier family 16 member 2, 6567

N. diseases: 108; N. variants: 30
Disease: Leukodystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.120 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: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.120 GeneticVariation disease BEFREE We report mutations in the thyroid hormone transporter gene MCT8 in 11% of 53 families affected by hypomyelinating leukodystrophies of unknown aetiology. 19194886 2009
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.120 Biomarker disease HPO