SLC16A2, solute carrier family 16 member 2, 6567

N. diseases: 108; N. variants: 30
Disease: Lesion of brain ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221505
Disease: Lesion of brain
Lesion of brain 		0.030 Biomarker group BEFREE We investigated how and when dysfunctional MCT8 can induce brain lesions associated with the Allan-Herndon-Dudley syndrome, characterized by psychomotor retardation. 29109240 2017
CUI: C0221505
Disease: Lesion of brain
Lesion of brain 		0.030 Biomarker group BEFREE Histopathological analysis of brain tissue from patients who have impaired MCT8 function indicates that brain lesions start prenatally, and are most probably the result of cerebral hypothyroidism. 25942657 2015
CUI: C0221505
Disease: Lesion of brain
Lesion of brain 		0.030 GeneticVariation group BEFREE We describe brain lesions in a patient with a monocarboxylate transporter 8 mutation. 16227048 2005