SLC1A5, solute carrier family 1 member 5, 6510

N. diseases: 81; N. variants: 2
Disease: Hartnup Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		0.020 GeneticVariation disease BEFREE Hartnup disorder is caused by mutations in the neutral amino acid transporter B(0) AT1 (SLC6A19). 16052352 2006
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		0.020 AlteredExpression disease BEFREE Quantitative RT-PCR of SLC1A5 messenger RNA in affected and unaffected subjects did not support systemic differences in expression as an explanation for Hartnup disorder. 12555937 2002