Protein | Gene Symbol | All allelic disease phenotypes - locus/disease symbols |
Sac domain-containing inositol phosphatase 3 | | * charcot-marie-tooth disease, type 4j - CMT4J (12.62, 14.39) * Amyotrophic lateral sclerosis 11 - ALS11 (12.62, 14.39)
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Sacsin | | * Charcot-Marie-Tooth disease, axonal; related to SACS - (13.102, 14.100, 15.93) * Autosomal recessive spastic ataxia of Charlevoix-Saguenay - ARSACS (13.102, 14.100, 15.93) * Spastic ataxia Charlevoix-Saguenay type - SPAX6 (13.102, 14.100, 15.93) * Spastic ataxia, Charlevoix-Saguenay type - SACS (13.102, 14.100, 15.93)
| Sarcoglycan, epsilon | | * Myoclonus-dystonia syndrome - DYT11 (16.2)
| SCY1 like pseudokinase 1 | | * Spinocerebellar ataxia, autosomal recessive 21 - SCAR21 (13.81)
| Seipin | | * Spastic paraplegia 17 - SPG17 (12.36, 15.9) * Neuronopathy, distal hereditary motor, autosomal dominant 13 - HMND13 (12.36, 15.9)
| Selenoprotein I | | * Spastic paraplegia 81, autosomal recessive - SPG81 (15.73)
| Selenoprotein N1 | | * Rigid spine syndrome related to SEPN1 - RSS (2.13, 5.13) * myopathy, congenital, with fiber-type disproportion - CFTD (2.13, 2.13, 5.13, 5.13) * Multiminicore disease, classical form - (2.13, 5.13, 5.13, 5.13) * Muscular dystrophy, rigid spine, 1 - RSMD1 (2.13, 5.13, 5.13, 5.13) * Desmin-related myopathy with Mallory bodies - RSMD1 (2.13, 5.13, 5.13, 5.13) * Rigid spine syndrome - RSMD1 (2.13, 5.13, 5.13, 5.13)
| Senataxin | | * Neuropathy, distal hereditary motor, with pyramidal features - ALS4 (12.55, 13.95) * Spinocerebellar ataxia, autosomal recessive 1 - SCAR1 (12.55, 13.95) * Spinocerebellar ataxia with axonal neuropathy type 2 - SCAN2 (12.55, 13.95)
| Septin 9 | | * Familial brachial plexus neuropathy - HNA (14.131)
| Sequestosome 1 | | * Welander-like distal myopathy - (4.15, 4.23, 12.83) * Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS3 (4.15, 4.23, 12.83) * Myopathy, distal, with rimmed vacuoles - DMRV (4.15, 4.23, 12.83)
| Serine palmitoyltransferase long chain base subunit 2 | | * Neuropathy, hereditary sensory and autonomic, type IC - HSAN1C (14.108)
| Serine palmitoyltransferase subunit 1 | | * Amyotrophic lateral sclerosis - (12.86, 14.106) * Neuropathy, hereditary sensory, type 1 - HSN1 (12.86, 14.106) * Neuropathy, hereditary sensory and autonomic, type 1 - HSAN1 (12.86, 14.106)
| Seryl-tRNA synthetase 1 | | * Charcot-Marie-Tooth disease, intermediate, related to SARS1 - (14.27)
| SET binding factor 1 | | * Charcot-Marie-Tooth neuropathy Type 4B3 - CMT4B3 (14.31)
| SET binding factor 2 | | * charcot-marie-tooth disease, type 4b2 - CMT4B2 (14.30)
| SH3 and cysteine rich domain 3 | | * Myopathy, congenital, with malignant hyperthermia susceptibility - (3.41, 3.57) * Congenital myopathy 13 - CMYP13 (3.41, 3.57)
| Sigma non-opioid intracellular receptor 1 | | * spinal muscular atrophy, distal, autosomal recessive, 2 - DSMA2 (12.14, 12.67) * Amyotrophic lateral sclerosis 16, juvenile - ALS16 (12.14, 12.67)
| SIL1 homolog, endoplasmic reticulum chaperone | | * Marinesco-Sjogren syndrome - MSS (13.97)
| Slow troponin C | | * Cardiomyopathy, dilated, 1Z - CMD1Z (10.12, 10.64) * Familial hypertrophic cardiomyopathy, 13 - CMH13 (10.12, 10.64)
| Slow troponin T | | * Nemaline myopathy 5 - NEM5 (3.8)
| Small Muscle Protein, X-linked | | * Myopathy, distal, 7 adult onset, X-linked - MPD7 (4.11)
| Sodium channel, voltage-gated, type I, beta subunit | | * Brugada syndrome 5 - BRGDA5 (10.170, 10.181) * Atrial fibrillation, 13 - ATFB13 (10.170, 10.181)
| Sodium channel, voltage-gated, type II, beta subunit | | * Atrial fibrillation, 14 - ATFB14 (10.171)
| Sodium channel, voltage-gated, type III, beta subunit | | * Brugada syndrome 7 - BRGDA7 (10.173, 10.183) * Atrial fibrillation, 16 - ATFB16 (10.173, 10.183)
| Sodium channel, voltage-gated, type IV, alpha | | * Sodium-channel myasthenia - (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33) * Severe foetal hypokinesia related to SCN4A - (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33) * Paramyotonia congenita of Von Eulenburg - PMC (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33) * Hyperkalemic periodic paralysis - HYPP (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33) * Potassium-aggravated myotonia - (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33) * Myotonia potassium-aggravatd - (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33) * Hyperkalemic periodic paralysis, type 2 - HOKPP2 (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33) * Myasthenic syndrome, acetazolamide-responsive - (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33) * Myasthenic syndrome, congenital, 16 - CMS16 (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33) * Congenital Myopathy 22A, classic - CMYP22A (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33) * Congenital Myopathy 22B, severe fetal - CMYP22B (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33)
| Sodium channel, voltage-gated, type IV, beta subunit | | * Long QT syndrome 10 - LQT10 (10.145, 10.174) * Atrial fibrillation, 17 - ATFB17 (10.145, 10.174)
| Sodium voltage-gated channel alpha subunit 11 | | * Neuropathy, hereditary sensory and autonomic, type VII - HSAN7 (14.116, 14.126) * Episodic pain syndrome, familial 3 - FEPS3 (14.116, 14.126)
| Sodium voltage-gated channel alpha subunit 9 | | * Erythromelalgia, Primary - SFNP (14.111, 14.125) * Neuropathy, hereditary sensory and autonomic, type IID - HSAN2D (14.111, 14.125)
| Sodium voltage-gated channel, alpha subunit 2; SCN2A | | * Episodic ataxia type-9 - EA9 (13.53)
| Solute carrier family 16, member 1 (monocarboxylic acid transporter 1) | | * Erythrocyte lactate transporter defect - (9.17)
| Solute Carrier Family 18 (Vesicular Acetylcholine), Member 3 | | * Myasthenic Syndrome, Congenital, 21, Presynaptic - CMS21 (11.29)
| Solute carrier family 22 member 5 | | * Carnitine deficiency, systemic primary - CDSP (9.19)
| Solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1(M) | | * Presynaptic congenital myasthenic syndrome 23 - CMS23 (11.31)
| Solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 26 | | * Mitochondrial myopathy related to SLC25A26 - (16.88)
| Solute carrier family 25 member 42(M) | | * Mitochondrial myopathy - (16.59) * Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression - MECREN (16.59)
| solute carrier family 25 member 46(M) | | * Neuropathy, hereditary motor and sensory, type VIB - HSMN6B (12.101)
| Solute carrier family 33 (acetyl- CoA transporter) | | * Spastic paraplegia 42, autosomal dominant - SPG42 (15.20)
| Solute carrier family 5 (sodium/choline cotransporter), member 7 | | * Neuronopathy, distal hereditary motor, type VIIA, with vocal cord paralysis (Harper-Young) - HMND7 (11.28, 12.30) * Congenital myasthenic syndrome with episodic apnea - CMS20 (11.28, 12.30)
| Solute carrier family 52, riboflavin transporter, member 2 | | * Brown-Vialetto-Van Laere syndrome 2 - BVVLS2 (12.103)
| Solute carrier family 52, riboflavin transporter, member 3 | | * Brown-Vialetto-Van Laere syndrome 1 - BVVLS1 (12.102)
| Solute carrier family 9, member 1 | | * Spinocerebellar ataxia, autosomal recessive 19 - SCAR19 (13.79)
| Solute carrier family 9, member 3, regulator 1 | | * Hereditary peripheral neuropathy - (14.138)
| Sorbitol Dehydrogenase | | * Sorbitol dehydrogenase deficiency with peripheral neuropathy - SORDD (12.20, 14.101) * Neuropathy, hereditary motor, autosomal recessive 8 - HMNR8 (12.20, 14.101)
| sorting nexin 14 | | * Spinocerebellar ataxia, autosomal recessive 20 - SCAR20 (13.80)
| Spartin | | * Spastic paraplegia 20 - SPG20 (15.34)
| Spastin | | * Familial spastic paraplegia, autosomal dominant, 2 - FSP2 (15.2) * Spastic paraplegia 4 - SPG4 (15.2)
| Spastizin | | * Spastic paraplegia 15 - SPG15 (15.32)
| Spectrin repeat containing, nuclear envelope 1 (nesprin 1) | | * Dilated cardiomyopathy related to nesprin-1 - (1.5, 10.93, 13.68, 16.23) * Spinocerebellar ataxia, autosomal recessive 8 - SCAR8 (1.5, 10.93, 13.68, 16.23) * Emery-dreifuss muscular dystrophy 4 - EDMD4 (1.5, 10.93, 13.68, 16.23) * Arthrogryposis multiplex congenita with nesprin-1 defect - AMCM (1.5, 10.93, 13.68, 16.23)
| Spectrin repeat containing, nuclear envelope 2 (nesprin 2) | | * Nesprin-2 related muscular dystrophy - EDMD (1.6)
| Spectrin, alpha, nonerythrocytic 1 | | * Distal motor neuropathy - (12.34)
| Spectrin, Beta, Nonerythrocytic, 2 | | * Spinocerebellar ataxia 5 - SCA5 (13.5, 13.74) * Spinocerebellar ataxia, autosomal recessive 14 - SCAR14 (13.5, 13.74)
| Spectrin, Beta, Nonerythrocytic, 4 | | * Myopathy, Congenital, With Neuropathy And Deafness - CMND (14.140)
| SPEG complex locus | | * Centronuclear myopathy 5 - CNM5 (3.22)
| SPG11 vesicle trafficking associated, Spatacsin | | * Amyotrophic lateral sclerosis 5 - ALS5 (12.56, 14.96, 15.30) * Spastic paraplegia 11 - SPG11 (12.56, 14.96, 15.30) * Charcot-Marie-Tooth neuropathy Type 2X - CMT2X (12.56, 14.96, 15.30)
| Sphingomyelin phosphodiesterase 4, neutral membrane | | * Neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies - NEDMABA (16.26)
| Sphingosine-1-Phosphate Lyase 1 | | * Charcot-Marie-Tooth disease, axonal - (14.98)
| Sterile Alpha Motif Domain-Containing Protein 9-Like | | * Ataxia-pancytopenia syndrome - ATXPC (13.46, 13.56) * Spinocerebellar ataxia 49 - SCA49 (13.46, 13.56)
| STIP1 homology and U-box containing protein 1 | | * Spinocerebellar ataxia, autosomal recessive 16 - SCAR16 (13.45, 13.76) * Spinocerebellar ataxia 48 - SCA48 (13.45, 13.76)
| Stromal interaction molecule 1 | | * Muscle weakness with hyperlaxity, orofacial abnormalities and respiratory infections - (5.40, 5.48) * Tubular aggregate myopathy 1 - TAM1 (5.40, 5.48)
| Structural maintenance of chromosomes flexible hinge domain containing 1 | | * Facio-scapulo-humeral muscular dystrophy, type 2 - FSHMD1B (1.11)
| Strumpellin | | * Spastic paraplegia 8 - SPG8 (15.4)
| Succinate dehydrogenase complex, subunit A, flavoprotein (Fp)(M) | | * Recessive neonatal isolated DC - (10.71) * Cardiomyopathy, dilated, 1GG - CMD1GG (10.71)
| Succinate-CoA ligase, ADP-forming, beta subunit(M) | | * Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) - MTDPS5 (16.50)
| Succinate-CoA ligase, alpha subunit(M) | | * Mitochondrial DNA depletion syndrome 9 (Encephalomyopathic type withmethylmalonic aciduria) - MTDPS9 (16.53)
| Superoxide dismutase 1, soluble | | * Amyotrophic lateral sclerosis 1 - ALS1 (12.51, 12.52) * Amyotrophic lateral sclerosis, due to SOD1 deficiency - ALS (12.51, 12.52)
| Supervillin | | * Myofibrillar myopathy 10 - MFM10 (5.11)
| Surfeit 1(M) | | * Charcot-Marie-Tooth neuropathy Type 4K - CMT4K (14.40)
| Survival of motor neuron 1, telomeric | | * Spinal muscular atrophy 1 - SMA1 (12.1, 12.2, 12.3, 12.4) * Kugelberg-Welander Syndrome - KWS (12.1, 12.2, 12.3, 12.4) * Spinal muscular atrophy 3 - SMA3 (12.1, 12.2, 12.3, 12.4) * Spinal muscular atrophy 2 - SMA2 (12.1, 12.2, 12.3, 12.4) * Spinal muscular atrophy 4 - SMA4 (12.1, 12.2, 12.3, 12.4)
| Synaptosome associated protein 25 | | * Congenital myasthenic syndrome with intellectual disability and ataxia - CMS18 (11.26)
| Synaptotagmin 14 | | * Spinocerebellar ataxia, autosomal recessive 11 - SCAR11 (13.71)
| Synaptotagmin II | | * Distal motor neuropathy related to SYT2 - (11.14, 11.15, 12.45) * Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy - MYSPC (11.14, 11.15, 12.45) * Myasthenic syndrome, congenital, 7, presynaptic and distal motor neuropathy, autosomal dominant - CMS7A (11.14, 11.15, 12.45) * Myasthenic syndrome, congenital, 7B, presynaptic - CMS7B (11.14, 11.15, 12.45)
| Syntrophin, alpha 1 | | * Long QT syndrome 12 - LQT12 (10.147)
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