SLC6A19, solute carrier family 6 member 19, 340024

N. diseases: 54; N. variants: 18
Disease: Iminoglycinuria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268654
Disease: Iminoglycinuria
Iminoglycinuria 		0.710 Biomarker disease GENOMICS_ENGLAND A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder. 19335424 2009
CUI: C0268654
Disease: Iminoglycinuria
Iminoglycinuria 		0.710 GeneticVariation disease ORPHANET Additional mutations were identified in the genes encoding the putative glycine transporter SLC6A18 (XT2) and the neutral amino acid transporter SLC6A19 (B0AT1) in families with either IG or HG, suggesting that mutations in the genes encoding these transporters may also contribute to these phenotypes. 19033659 2008
CUI: C0268654
Disease: Iminoglycinuria
Iminoglycinuria 		0.710 Biomarker disease BEFREE Additional mutations were identified in the genes encoding the putative glycine transporter SLC6A18 (XT2) and the neutral amino acid transporter SLC6A19 (B0AT1) in families with either IG or HG, suggesting that mutations in the genes encoding these transporters may also contribute to these phenotypes. 19033659 2008
CUI: C0268654
Disease: Iminoglycinuria
Iminoglycinuria 		0.710 CausalMutation disease CLINVAR
CUI: C0268654
Disease: Iminoglycinuria
Iminoglycinuria 		0.710 Biomarker disease CTD_human