Gene: SLC6A5 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9152
Gene Symbol: SLC6A5
SLC6A5 		0.800 GeneticVariation disease UNIPROT The P429L loss of function mutation of the human glycine transporter 2 associated with hyperekplexia. 31370103 2019
Entrez Id: 9152
Gene Symbol: SLC6A5
SLC6A5 		0.800 Biomarker disease GENOMICS_ENGLAND A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2. 22753417 2012
Entrez Id: 9152
Gene Symbol: SLC6A5
SLC6A5 		0.800 CausalMutation disease CLINVAR Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease. 22700964 2012
Entrez Id: 9152
Gene Symbol: SLC6A5
SLC6A5 		0.800 GeneticVariation disease UNIPROT Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease. 16751771 2006
Entrez Id: 9152
Gene Symbol: SLC6A5
SLC6A5 		0.800 Biomarker disease GENOMICS_ENGLAND Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease. 16751771 2006
Entrez Id: 9152
Gene Symbol: SLC6A5
SLC6A5 		0.800 Biomarker disease MGD Deletion of the mouse glycine transporter 2 results in a hyperekplexia phenotype and postnatal lethality. 14622583 2003
Entrez Id: 9152
Gene Symbol: SLC6A5
SLC6A5 		0.800 GeneticVariation disease CLINVAR