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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)
- SAMHD1: SAM domain and HD domain 1
- SAR1B: SAR1 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
- SCN10A: sodium channel, voltage-gated, type X, alpha subunit
- SCNN1A: sodium channel, non-voltage-gated 1 alpha subunit
- SCNN1B: sodium channel, non-voltage-gated 1, beta subunit
- SCNN1G: sodium channel, non-voltage-gated 1, gamma subunit
- SDHA: succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
- SDHAF2: succinate dehydrogenase complex assembly factor 2
- SDHB: succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
- SDHC: succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
- SDHD: succinate dehydrogenase complex, subunit D, integral membrane protein
- SEC23B: Sec23 homolog B (S. cerevisiae)
- SEPN1: selenoprotein N, 1
- SEPT9: septin 9
- SERPINA1: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
- SERPINA7: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
- SERPINC1: serpin peptidase inhibitor, clade C (antithrombin), member 1
- SERPING1: serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
- SERPINI1: serpin peptidase inhibitor, clade I (neuroserpin), member 1
- SETBP1: SET binding protein 1
- SETX: senataxin
- SFTPB: surfactant protein B
- SFTPC: surfactant protein C
- SGCA: sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
- SGCB: sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
- SGCD: sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
- SGCE: sarcoglycan, epsilon
- SGCG: sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
- SGSH: N-sulfoglucosamine sulfohydrolase
- SH2D1A: SH2 domain containing 1A
- SH3BP2: SH3-domain binding protein 2
- SH3TC2: SH3 domain and tetratricopeptide repeats 2
- SHANK3: SH3 and multiple ankyrin repeat domains 3
- SHH: sonic hedgehog
- SHOX: short stature homeobox
- SI: sucrase-isomaltase (alpha-glucosidase)
- SIL1: SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)
- SIX1: SIX homeobox 1
- SIX3: SIX homeobox 3
- SIX5: SIX homeobox 5
- SLC1A3: solute carrier family 1 (glial high affinity glutamate transporter), member 3
- SLC2A1: solute carrier family 2 (facilitated glucose transporter), member 1
- SLC2A10: solute carrier family 2 (facilitated glucose transporter), member 10
- SLC3A1: solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1
- SLC5A1: solute carrier family 5 (sodium/glucose cotransporter), member 1
- SLC5A5: solute carrier family 5 (sodium iodide symporter), member 5
- SLC6A8: solute carrier family 6 (neurotransmitter transporter, creatine), member 8
- SLC7A7: solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
- SLC7A9: solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9
- SLC9A6: solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
- SLC12A1: solute carrier family 12 (sodium/potassium/chloride transporters), member 1
- SLC12A3: solute carrier family 12 (sodium/chloride transporters), member 3
- SLC12A6: solute carrier family 12 (potassium/chloride transporters), member 6
- SLC16A2: solute carrier family 16, member 2 (thyroid hormone transporter)
- SLC17A5: solute carrier family 17 (anion/sugar transporter), member 5
- SLC19A2: solute carrier family 19 (thiamine transporter), member 2
- SLC20A2: solute carrier family 20 (phosphate transporter), member 2
- SLC22A5: solute carrier family 22 (organic cation/carnitine transporter), member 5
- SLC25A4: solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
- SLC25A13: solute carrier family 25 (aspartate/glutamate carrier), member 13
- 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
- SLC30A10: solute carrier family 30, member 10
- SLC37A4: solute carrier family 37 (glucose-6-phosphate transporter), member 4
- SLC40A1: solute carrier family 40 (iron-regulated transporter), member 1
- SLC45A2: solute carrier family 45, member 2
- SLC46A1: solute carrier family 46 (folate transporter), member 1
- SLC52A3: solute carrier family 52, riboflavin transporter, member 3
- SLITRK1: SLIT and NTRK-like family, member 1
- SMAD3: SMAD family member 3
- 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
- SOD1: superoxide dismutase 1, soluble
- SOS1: son of sevenless homolog 1 (Drosophila)
- SOST: sclerostin
- SOX2: SRY (sex determining region Y)-box 2
- SOX9: SRY (sex determining region Y)-box 9
- SOX10: SRY (sex determining region Y)-box 10
- SP110: SP110 nuclear body protein
- SPAST: spastin
- SPG7: spastic paraplegia 7 (pure and complicated autosomal recessive)
- SPG11: spastic paraplegia 11 (autosomal recessive)
- SPG20: spastic paraplegia 20 (Troyer syndrome)
- SPR: sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
- SPRED1: sprouty-related, EVH1 domain containing 1
- SPTLC1: serine palmitoyltransferase, long chain base subunit 1
- SQSTM1: sequestosome 1
- SRCAP: Snf2-related CREBBP activator protein
- 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)
- STAT4: signal transducer and activator of transcription 4
- STK11: serine/threonine kinase 11
- STRC: stereocilin
- SUCLA2: succinate-CoA ligase, ADP-forming, beta subunit
- SUCLG1: succinate-CoA ligase, alpha subunit
- SURF1: surfeit 1
- SYNE1: spectrin repeat containing, nuclear envelope 1
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