SLC9A6, solute carrier family 9 member A6, 10479

N. diseases: 210; N. variants: 15
Disease: Severe intellectual disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.120 GeneticVariation disease BEFREE Christianson syndrome (CS) is caused by mutations in SLC9A6 and is characterized by severe intellectual disability, absent speech, microcephaly, ataxia, seizures, and behavioral abnormalities. 24285247 2014
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.120 GeneticVariation disease BEFREE Recent genetic studies have identified several mutations in the coding region of NHE6 that are linked with severe intellectual disability, autistic behavior, ataxia and other abnormalities. 24090639 2014
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.120 Biomarker disease HPO