SLC39A8, solute carrier family 39 member 8, 64116

N. diseases: 138; N. variants: 19
Disease: Cerebellar atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.120 GeneticVariation disease BEFREE SLC39A8 variants have recently been reported to cause a type II congenital disorder of glycosylation (CDG) in patients with intellectual disability and cerebellar atrophy. 27995398 2017
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.120 GeneticVariation disease BEFREE Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8. 26637978 2015
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.120 Biomarker disease HPO