SLC6A5, solute carrier family 6 member 5, 9152

N. diseases: 64; N. variants: 15
Disease: Apnea ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003578
Disease: Apnea
Apnea 		0.420 Biomarker phenotype CTD_human Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia. 25480793 2015
CUI: C0003578
Disease: Apnea
Apnea 		0.420 GeneticVariation phenotype BEFREE Patients with SLC6A5 mutations were significantly more likely to have had recurrent infantile apnoeas (RR1.9; P < 0.005) than those with GLRA1 mutations. 24030948 2013
CUI: C0003578
Disease: Apnea
Apnea 		0.420 GeneticVariation phenotype BEFREE Genotype-phenotype analysis revealed a high rate of neonatal apneas and learning difficulties associated with SLC6A5 mutations. 22700964 2012
CUI: C0003578
Disease: Apnea
Apnea 		0.420 Biomarker phenotype HPO