SLC6A8, solute carrier family 6 member 8, 6535

N. diseases: 274; N. variants: 27
Disease: Developmental Disabilities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.310 GeneticVariation group BEFREE Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8. 24045174 2014
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.310 Biomarker group CTD_human X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. 11326334 2001