SLC5A7, solute carrier family 5 member 7, 60482

N. diseases: 127; N. variants: 12
Disease: Congenital Myasthenic Syndromes, Presynaptic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		0.500 GermlineCausalMutation disease ORPHANET Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. 27569547 2016
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		0.500 Biomarker disease CTD_human