Gene table: search width pubmed_id = 27569547


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Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Myasthenic syndrome, congenital, 20, presynaptic - (AR)
11.28
27569547
SLC5A7 (2q12.31)
Solute carrier family 5 (sodium/choline cotransporter), member 7
* Neuronopathy, distal hereditary motor, type VIIA, with vocal cord paralysis (Harper-Young) - HMND7
* Congenital myasthenic syndrome with episodic apnea - CMS20