SLC5A7 (solute carrier family 5 member 7)

Gene

• Entrez ID: 60482
• Gene name: Solute carrier family 5 member 7
• Gene symbol: SLC5A7
• Synonyms (NCBI Gene): CHT, CHT1, CMS20, DHMNVP, HMN7A, HMND7, hCHT1
• Disease Acronyms (UniProt): CMS20, HMND7
• Chromosome: 2
• Chromosome location: 2q12.3
• Summary: This gene encodes a sodium ion- and chloride ion-dependent high-affinity transporter that mediates choline uptake for acetylcholine synthesis in cholinergic neurons. The protein transports choline from the extracellular space into presynaptic terminals fo

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs147656110	G>A	Pathogenic	Missense variant, coding sequence variant
rs886039765	G>A	Pathogenic, uncertain-significance	Coding sequence variant, intron variant, genic upstream transcript variant, missense variant, upstream transcript variant, 5 prime UTR variant
rs886039766	C>T	Pathogenic, uncertain-significance	5 prime UTR variant, coding sequence variant, missense variant
rs886039767	CATC>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, intron variant, upstream transcript variant, 5 prime UTR variant
rs886039768	A>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, missense variant, upstream transcript variant, 5 prime UTR variant
rs1558872865	G>-	Uncertain-significance, pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT442500	hsa-miR-5692a	PAR-CLIP	22100165
MIRT442498	hsa-miR-323b-3p	PAR-CLIP	22100165
MIRT442499	hsa-miR-5589-3p	PAR-CLIP	22100165
MIRT442497	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT442500	hsa-miR-5692a	PAR-CLIP	22100165
MIRT442498	hsa-miR-323b-3p	PAR-CLIP	22100165
MIRT442499	hsa-miR-5589-3p	PAR-CLIP	22100165
MIRT442497	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT611928	hsa-miR-8485	HITS-CLIP	23824327
MIRT611927	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611926	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611925	hsa-miR-603	HITS-CLIP	23824327
MIRT611924	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611923	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT611922	hsa-miR-3659	HITS-CLIP	23824327
MIRT611921	hsa-miR-3941	HITS-CLIP	23824327
MIRT611920	hsa-miR-4658	HITS-CLIP	23824327
MIRT611919	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT442500	hsa-miR-5692a	PAR-CLIP	22100165
MIRT442498	hsa-miR-323b-3p	PAR-CLIP	22100165
MIRT442499	hsa-miR-5589-3p	PAR-CLIP	22100165
MIRT442497	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT442500	hsa-miR-5692a	PAR-CLIP	22100165
MIRT442498	hsa-miR-323b-3p	PAR-CLIP	22100165
MIRT442499	hsa-miR-5589-3p	PAR-CLIP	22100165
MIRT442497	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT1365808	hsa-miR-1266	CLIP-seq
MIRT1365809	hsa-miR-1283	CLIP-seq
MIRT1365810	hsa-miR-129-5p	CLIP-seq
MIRT1365811	hsa-miR-1825	CLIP-seq
MIRT1365812	hsa-miR-186	CLIP-seq
MIRT1365813	hsa-miR-194	CLIP-seq
MIRT1365814	hsa-miR-2392	CLIP-seq
MIRT1365815	hsa-miR-3134	CLIP-seq
MIRT1365816	hsa-miR-3200-3p	CLIP-seq
MIRT1365817	hsa-miR-3591-3p	CLIP-seq
MIRT1365818	hsa-miR-4423-5p	CLIP-seq
MIRT1365819	hsa-miR-4426	CLIP-seq
MIRT1365820	hsa-miR-4518	CLIP-seq
MIRT1365821	hsa-miR-4647	CLIP-seq
MIRT1365822	hsa-miR-4662b	CLIP-seq
MIRT1365823	hsa-miR-4666-5p	CLIP-seq
MIRT1365824	hsa-miR-4790-3p	CLIP-seq
MIRT1365825	hsa-miR-520d-5p	CLIP-seq
MIRT1365826	hsa-miR-524-5p	CLIP-seq
MIRT1365827	hsa-miR-542-3p	CLIP-seq
MIRT1365828	hsa-miR-548c-3p	CLIP-seq
MIRT1365829	hsa-miR-548p	CLIP-seq
MIRT1365830	hsa-miR-944	CLIP-seq
MIRT2108626	hsa-miR-2054	CLIP-seq
MIRT1365816	hsa-miR-3200-3p	CLIP-seq
MIRT2108627	hsa-miR-337-3p	CLIP-seq
MIRT2108628	hsa-miR-3685	CLIP-seq
MIRT2108629	hsa-miR-380	CLIP-seq
MIRT2108630	hsa-miR-384	CLIP-seq
MIRT2108631	hsa-miR-4760-3p	CLIP-seq
MIRT1365829	hsa-miR-548p	CLIP-seq
MIRT2108632	hsa-miR-664	CLIP-seq
MIRT1365810	hsa-miR-129-5p	CLIP-seq
MIRT2332223	hsa-miR-3140-3p	CLIP-seq
MIRT2332224	hsa-miR-3145-5p	CLIP-seq
MIRT2332225	hsa-miR-3160-5p	CLIP-seq
MIRT2332226	hsa-miR-329	CLIP-seq
MIRT2332227	hsa-miR-3674	CLIP-seq
MIRT2332228	hsa-miR-3682-5p	CLIP-seq
MIRT2332229	hsa-miR-4474-5p	CLIP-seq
MIRT2332230	hsa-miR-4659a-3p	CLIP-seq
MIRT2332231	hsa-miR-4659b-3p	CLIP-seq
MIRT2332232	hsa-miR-4716-5p	CLIP-seq
MIRT2332233	hsa-miR-4719	CLIP-seq
MIRT2332234	hsa-miR-4778-3p	CLIP-seq
MIRT2332235	hsa-miR-491-3p	CLIP-seq
MIRT2332236	hsa-miR-508-5p	CLIP-seq
MIRT2332234	hsa-miR-4778-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0005307	Function	Choline:sodium symporter activity	IBA	21873635
GO:0005307	Function	Choline:sodium symporter activity	IMP	12237312
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	12237312
GO:0005886	Component	Plasma membrane	TAS
GO:0006814	Process	Sodium ion transport	IEA
GO:0007269	Process	Neurotransmitter secretion	TAS
GO:0007271	Process	Synaptic transmission, cholinergic	IBA	21873635
GO:0007274	Process	Neuromuscular synaptic transmission	IBA	21873635
GO:0008292	Process	Acetylcholine biosynthetic process	IBA	21873635
GO:0008292	Process	Acetylcholine biosynthetic process	IMP	11068039
GO:0015220	Function	Choline transmembrane transporter activity	IMP	11068039
GO:0015220	Function	Choline transmembrane transporter activity	TAS
GO:0015871	Process	Choline transport	IBA	21873635
GO:0016021	Component	Integral component of membrane	IDA	11027560
GO:0030424	Component	Axon	IBA	21873635
GO:0030425	Component	Dendrite	IBA	21873635
GO:0031594	Component	Neuromuscular junction	IDA	27569547
GO:0033265	Function	Choline binding	IEA
GO:0043204	Component	Perikaryon	IBA	21873635
GO:0045202	Component	Synapse	IBA	21873635
GO:0055085	Process	Transmembrane transport	TAS
GO:0098793	Component	Presynapse	IEA

Other IDs

• MIM: 608761
• HGNC: 14025
• e!Ensembl: ENSG00000115665

Protein

• UniProt ID: Q9GZV3
• Protein name: High affinity choline transporter 1 (hCHT1) (Hemicholinium-3-sensitive choline transporter) (CHT) (Solute carrier family 5 member 7)
• Protein function: High-affinity Na(+)-coupled choline transmembrane symporter (PubMed:11027560, PubMed:11068039, PubMed:12237312, PubMed:12969261, PubMed:17005849, PubMed:23132865, PubMed:23141292, PubMed:27569547). Functions as an electrogenic, voltage-dependent
• PDB: 8J74, 8J75, 8J76, 8J77, 8ZQO, 8ZQP, 8ZQQ, 8ZQR, 9BFI, 9BFJ, 9BFK, 9BIM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00474	SSF	42 → 442	Sodium:solute symporter family	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in putamen, spinal cord and medulla (PubMed:11027560, PubMed:11068039). Expressed in cholinergic neurons (PubMed:27569547). {ECO:0000269|PubMed:11027560, ECO:0000269|PubMed:11068039, ECO:0000269|PubMed:27569547}.
• Sequence:

  MAFHVEGLIAIIVFYLLILLVGIWAAWRTKNSGSAEERSEAIIVGGRDIGLLVGGFTMTA
  TWVGGGYINGTAEAVYVPGYGLAWAQAPIGYSLSLILGGLFFAKPMRSKGYVTMLDPFQQ
  IYGKRMGGLLFIPALMGEMFWAAAIFSALGATISVIIDVDMHISVIISALIATLYTLVGG
  LYSVAYTDVVQLFCIFVGLWISVPFALSHPAVADIGFTAVHAKYQKPWLGTVDSSEVYSW
  LDSFLLLMLGGIPWQAYFQRVLSSSSATYAQVLSFLAAFGCLVMAIPAILIGAIGASTDW
  NQTAYGLPDPKTTEEADMILPIVLQYLCPVYISFFGLGAVSAAVMSSADSSILSASSMFA
  RNIYQLSFRQNASDKEIVWVMRITVFVFGASATAMALLTKTVYGLWYLSSDLVYIVIFPQ
  LLCVLFVKGTNTYGAVAGYVSGLFLRITGGEPYLYLQPLIFYPGYYPDDNGIYNQKFPFK
  TLAMVTSFLTNICISYLAKYLFESGTLPPKLDVFDAVVARHSEENMDKTILVKNENIKLD
  ELALVKPRQSMTLSSTFTNKEAFLDVDSSPEGSGTEDNLQ

• Sequence length: 580

Pathways

KEGG:

Cholinergic synapse
Choline metabolism in cancer

Reactome:

Acetylcholine Neurotransmitter Release Cycle
Transport of bile salts and organic acids, metal ions and amine compounds
Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)
Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627
Myasthenic syndrome	Congenital Myasthenic Syndromes, Postsynaptic, Congenital Myasthenic Syndromes, Presynaptic, Presynaptic congenital myasthenic syndromes, Myasthenic Syndromes, Congenital, Myasthenic Syndromes, Congenital, Slow Channel, MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC	rs606231128, rs606231129, rs606231130, rs606231131, rs606231132, rs118203994, rs118203995, rs863223277, rs606231133, rs121908547, rs121908553, rs121908557, rs104893733, rs104893734, rs121908922, rs769982050, rs759911990, rs121908923, rs121908924, rs1384843815, rs104893735, rs104894299, rs104894300, rs786200904, rs104894301, rs786200905, rs104894294, rs121909254, rs121909255, rs879255561, rs121912821, rs75466054, rs121912822, rs199476396, rs121909510, rs121909511, rs121909514, rs121909512, rs121909513, rs879255562, rs879253722, rs879253723, rs28999110, rs886037628, rs753828284, rs121909515, rs121909516, rs121909517, rs879255563, rs121909502, rs121909503, rs121909504, rs879255564, rs121909505, rs121909508, rs137852810, rs137852811, rs137852798, rs137852800, rs137852801, rs137852802, rs137852804, rs137852805, rs137852806, rs137852807, rs137852808, rs2105350984, rs374391312, rs201322234, rs1671535986, rs1574066341, rs1574058076, rs1574066599, rs387906803, rs387907243, rs376039938, rs397515321, rs387907244, rs387907245, rs377767449, rs193919341, rs398122830, rs397515450, rs587777298, rs587777299, rs587777781, rs730882050, rs730882123, rs730882051, rs786204773, rs786205885, rs794727884, rs761899995, rs797045040, rs797045528, rs200783529, rs551423795, rs756877019, rs864309662, rs864309663, rs756623659, rs773526895, rs763258280, rs762368691, rs1555794286, rs886037842, rs147656110, rs886039767, rs886039768, rs770045897, rs763281993, rs755236236, rs886043239, rs764497513, rs1057517666, rs370019023, rs769114543, rs922548333, rs139574075, rs767507908, rs759226183, rs1057523690, rs55868108, rs755303686, rs1085307792, rs775583136, rs376808313, rs1131691986, rs776927709, rs1279554995, rs1553850100, rs1156634884, rs1553390600, rs1349476281, rs1555546465, rs199875082, rs200761047, rs1553360075, rs971863968, rs369251527, rs372760913, rs1479498379, rs1555547003, rs1423995073, rs1555546315, rs1555546765, rs201033437, rs1430654625, rs1554943789, rs1316112168, rs781689096, rs1553354962, rs753545038, rs1011196447, rs1553389102, rs185829251, rs28929768, rs1555546096, rs932032926, rs1553846331, rs756015202, rs1555142142, rs1436090495, rs1553352792, rs145356495, rs770987150, rs768892432, rs1557700705, rs1172015222, rs1558749457, rs1361739547, rs775517492, rs1558773839, rs1559510978, rs771879602, rs777102590, rs1567635954, rs1407243713, rs1567638401, rs756675414, rs781908532, rs1306593300, rs1559519107, rs199470447, rs1557721600, rs1558762013, rs746220436, rs1565527239, rs1565527137, rs1565527140, rs1567636493, rs1558761046, rs143766249, rs1447564693, rs757060689, rs1309292778, rs1575460231, rs1570193864, rs1570195582, rs1239736447, rs779488471, rs201947904, rs1597612665, rs1597613302, rs781774131, rs760022829, rs1597619440, rs1597621353, rs1187421976, rs977512223, rs1239393228, rs762875734, rs148092524, rs1269227357, rs1208462125, rs1597622118, rs1597749210, rs1570190059, rs1574007436, rs781974501, rs748639083, rs1597613479, rs1597621396, rs1570242061, rs149020371, rs1595903667, rs1597618787, rs1600807788, rs1579484850, rs1577153029, rs779816027, rs1598406692, rs1577153124, rs778172294, rs1590576560, rs753652169, rs1595902947, rs1369980189, rs762345055, rs1675812434, rs375268742, rs1671813157, rs759488854, rs761584017, rs1969834618, rs1969839736, rs1255916068, rs1597618854, rs1969973509, rs1908994498, rs1320610655, rs373710822	27569547, 26786006
Distal hereditary motor neuronopathy	Distal hereditary motor neuropathy type 7	rs104894345, rs104894351, rs137852970, rs137852972, rs267607143, rs267607145, rs28939680, rs29001571, rs28937568, rs28937569, rs104894020, rs121909112, rs121909113, rs121909342, rs786205090, rs137852644, rs137852646, rs121913595, rs387906904, rs387907242, rs398123028, rs398122838, rs730880031, rs730882139, rs730882140, rs267607623, rs797044802, rs746581714, rs756614404, rs770272088, rs876661124, rs879253868, rs879254085, rs764813110, rs1060502838, rs1064796370, rs1554338260, rs137852973, rs1347223331, rs377626365, rs772217003, rs1553174566, rs1324667543, rs557327165, rs1441260635, rs1565929080, rs770593694, rs1584026191, rs372181708, rs758322672, rs1587668798, rs1587671674, rs972425138, rs1594427564, rs1594445698, rs1594453111, rs1337346956, rs1240319744, rs199839840, rs754422011, rs1595599240, rs1595600898, rs1555408333, rs774079947, rs1584034430, rs562669797, rs749383814, rs762573767, rs767263669, rs746212067, rs1182614290, rs1018405924	23141292
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Myasthenia gravis	Familial infantile myasthenia, Myasthenias	rs5030818, rs121912815, rs121912817, rs121912818, rs121912821, rs75466054, rs121912822, rs121912823, rs794727516, rs764497513, rs376808313, rs1279554995, rs1554802792, rs369251527, rs372760913, rs1554802808, rs769234940, rs201439531, rs1272947184, rs757303526, rs760936252, rs1590576560, rs1838635262	27569547
Neuropathy	Neuropathy, Distal Hereditary Motor, Type VIIA	rs121913593, rs121913595, rs751050956, rs878853221, rs768554986, rs1553259568, rs1567973091, rs1560046845, rs1567969825, rs1567973088, rs756896276	23141292, 29782645
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Polyneuropathy	Polyneuropathy, Motor	rs1597597437
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease term	Disease name	Evidence	References	Source
Distal amyotrophy	Distal amyotrophy			ClinVar
Mental depression	Unipolar Depression, Recurrent depression, Major Depressive Disorder		18081710	ClinVar
Ptosis	Blepharoptosis, Ptosis			ClinVar
Myasthenic Syndrome	congenital myasthenic syndrome 20, presynaptic congenital myasthenic syndrome			GenCC
Distal Hereditary Motor Neuronopathy	distal hereditary motor neuropathy type 7			GenCC
Schizophrenia	Schizophrenia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Arthrogryposis	Associate	27569547
Atherosclerosis	Associate	21337021
Autonomic Nervous System Diseases	Associate	27569547
Carotid Artery Diseases	Associate	21337021
Cognition Disorders	Associate	24666128, 27569547
Colorectal Neoplasms	Associate	26208990
Colorectal Neoplasms	Inhibit	35858918
Congenital myasthenic syndrome ib	Associate	27569547, 36840359
Congenital myasthenic syndrome with episodic apnea	Associate	27569547, 29189923
Distal Hereditary Motor Neuropathy Type II	Associate	23141292
Muscle Hypotonia	Associate	27569547
Muscle Weakness	Associate	27569547
Muscular Atrophy Spinal	Associate	23141292
Myasthenic Syndromes Congenital	Associate	27569547, 36840359
Neoplasms	Associate	28427185
Neoplasms	Inhibit	35858918
Neuromuscular Manifestations	Associate	36840359
Neuropathy Distal Hereditary Motor Type VIIA	Associate	27569547
Peripheral Nervous System Diseases	Associate	23141292
Spinal Muscular Atrophy Distal Autosomal Recessive 3	Associate	27569547