SLC9A6, solute carrier family 9 member A6, 10479

N. diseases: 210; N. variants: 15
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 		0.110 GeneticVariation disease BEFREE Mutations in SLC9A6 have been reported in X-linked Christianson syndrome associating severe to profound intellectual deficiency and an Angelman-like phenotype with microcephaly, absent speech, ataxia with progressive cerebellar atrophy, ophthalmoplegia, epilepsy, and neurological regression. 27256868 2016
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.110 Biomarker disease HPO