SLC6A9, solute carrier family 6 member 9, 6536

N. diseases: 71; N. variants: 11
Disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310943
Disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 		0.700 CausalMutation disease CLINVAR Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine. 27773429 2016
CUI: C4310943
Disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 		0.700 CausalMutation disease CLINVAR Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans. 27481395 2016
CUI: C4310943
Disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 		0.700 Biomarker disease GENOMICS_ENGLAND Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans. 27481395 2016
CUI: C4310943
Disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 		0.700 GeneticVariation disease UNIPROT Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine. 27773429 2016
CUI: C4310943
Disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 		0.700 GeneticVariation disease UNIPROT Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans. 27481395 2016
CUI: C4310943
Disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 		0.700 Biomarker disease GENOMICS_ENGLAND Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine. 27773429 2016
CUI: C4310943
Disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 		0.700 Biomarker disease CTD_human