SLC9A6, solute carrier family 9 member A6, 10479

N. diseases: 210; N. variants: 15
Disease: Mental retardation X-linked, South African type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846130
Disease: Mental retardation X-linked, South African type
Mental retardation X-linked, South African type 		0.500 Biomarker disease MGD Mixed Neurodevelopmental and Neurodegenerative Pathology in Nhe6-Null Mouse Model of Christianson Syndrome. 29349289 2018
CUI: C1846130
Disease: Mental retardation X-linked, South African type
Mental retardation X-linked, South African type 		0.500 Biomarker disease MGD X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities. 26515654 2016
CUI: C1846130
Disease: Mental retardation X-linked, South African type
Mental retardation X-linked, South African type 		0.500 Biomarker disease MGD X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction. 21964919 2011
CUI: C1846130
Disease: Mental retardation X-linked, South African type
Mental retardation X-linked, South African type 		0.500 GermlineCausalMutation disease ORPHANET SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. 18342287 2008