SLC5A7, solute carrier family 5 member 7, 60482

N. diseases: 127; N. variants: 12
Disease: Familial infantile myasthenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393929
Disease: Familial infantile myasthenia
Familial infantile myasthenia 		0.300 Biomarker disease GENOMICS_ENGLAND Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. 27569547 2016