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- SAA1: serum amyloid A1
- SACS: spastic ataxia of Charlevoix-Saguenay (sacsin)
- SALL1: sal-like 1 (Drosophila)
- SALL4: sal-like 4 (Drosophila)
- SAR1B: SAR1 gene homolog B (S. cerevisiae)
- SBDS: Shwachman-Bodian-Diamond syndrome
- SBF2: SET binding factor 2
- SCN1A: sodium channel, voltage-gated, type I, alpha subunit
- SCN4A: sodium channel, voltage-gated, type IV, alpha subunit
- SCN5A: sodium channel, voltage-gated, type V, alpha subunit
- SCN9A: sodium channel, voltage-gated, type IX, alpha subunit
- SEPN1: selenoprotein N, 1
- SERPINA1: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
- SERPINI1: serpin peptidase inhibitor, clade I (neuroserpin), member 1
- SETX: senataxin
- SH3BP2: SH3-domain binding protein 2
- SH3TC2: SH3 domain and tetratricopeptide repeats 2
- SHOX: short stature homeobox
- SI: sucrase-isomaltase (alpha-glucosidase)
- SIL1: SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)
- SIX1: SIX homeobox 1
- SIX5: SIX homeobox 5
- SLC12A6: solute carrier family 12 (potassium/chloride transporters), member 6
- SLC16A2: solute carrier family 16, member 2 (monocarboxylic acid transporter 8)
- SLC17A5: solute carrier family 17 (anion/sugar transporter), member 5
- SLC1A3: solute carrier family 1 (glial high affinity glutamate transporter), member 3
- SLC22A5: solute carrier family 22 (organic cation/carnitine transporter), member 5
- SLC25A13: solute carrier family 25, member 13 (citrin)
- SLC25A15: solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
- SLC25A19: solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
- SLC25A20: solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
- SLC26A2: solute carrier family 26 (sulfate transporter), member 2
- SLC26A4: solute carrier family 26, member 4
- SLC2A1: solute carrier family 2 (facilitated glucose transporter), member 1
- SLC3A1: solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1
- SLC40A1: solute carrier family 40 (iron-regulated transporter), member 1
- SLC45A2: solute carrier family 45, member 2
- SLC5A1: solute carrier family 5 (sodium/glucose cotransporter), member 1
- SLC5A5: solute carrier family 5 (sodium iodide symporter), member 5
- SLC7A7: solute carrier family 7 (cationic amino acid transporter, y+ system), member 7
- SLC7A9: solute carrier family 7 (cationic amino acid transporter, y+ system), member 9
- SLITRK1: SLIT and NTRK-like family, member 1
- SMAD4: SMAD family member 4
- SMARCAL1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
- SMC1A: structural maintenance of chromosomes 1A
- SMC3: structural maintenance of chromosomes 3
- SMN1: survival of motor neuron 1, telomeric
- SMN2: survival of motor neuron 2, centromeric
- SMPD1: sphingomyelin phosphodiesterase 1, acid lysosomal
- SNAI2: snail homolog 2 (Drosophila)
- SNCA: synuclein, alpha (non A4 component of amyloid precursor)
- SNCAIP: synuclein, alpha interacting protein (synphilin)
- SOD1: superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))
- SOS1: son of sevenless homolog 1 (Drosophila)
- SOX10: SRY (sex determining region Y)-box 10
- SP110: SP110 nuclear body protein
- SPAST: spastin
- SPG20: spastic paraplegia 20 (Troyer syndrome)
- SPG3A: spastic paraplegia 3A (autosomal dominant)
- SPG7: spastic paraplegia 7 (pure and complicated autosomal recessive)
- SRD5A2: steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
- SRY: sex determining region Y
- STAT3: signal transducer and activator of transcription 3 (acute-phase response factor)
- STK11: serine/threonine kinase 11
- STRC: stereocilin
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