Protein | Gene Symbol | All allelic disease phenotypes - locus/disease symbols |
| sacsin | |  * Spastic ataxia, Charlevoix-Saguenay type - SACS (13.54, 15.46)
* Autosomal recessive spastic ataxia of Charlevoix-Saguenay - ARSACS (13.54, 15.46)
|
sarcoglycan, epsilon | | * Myoclonus-dystonia syndrome - DYT11 (16.2)
| seipin | | * Spastic paraplegia 17 - SPG17 (12.15, 15.9)
* Neuronopathy, distal hereditary motor, type V - HMN5 (12.15, 15.9)
| Selenoprotein N1 | | * myopathy, congenital, with fiber-type disproportion - CFTD (2.14, 3.10, 3.21, 5.3)
* Multiminicore disease, classical form - (2.14, 3.10, 3.21, 5.3)
* Rigid spine syndrome - RSS (2.14, 3.10, 3.21, 5.3)
* Desmin-related myopathy with Mallory bodies - RSMD1 (2.14, 3.10, 3.21, 5.3)
* Muscular dystrophy, rigid spine, 1 - MDRS1 (2.14, 3.10, 3.21, 5.3)
| senataxin | | * Neuropathy, distal hereditary motor, with pyramidal features - ALS4 (12.25, 13.41)
* ATAXIA-oculomotor apraxia 2 - AOA2 (12.25, 13.41)
* Spinocerebellar ataxia, autosomal recessive 1 - SCAR1 (12.25, 13.41)
| septin 9 | | * Familial brachial plexus neuropathy - HNA (14.64)
| serine palmitoyltransferase long chain base subunit 2 | | * Neuropathy, hereditary sensory and autonomic, type IC - HSAN1C (14.55)
| serine palmitoyltransferase subunit 1 | | * Neuropathy, hereditary sensory, type 1 - HSN1 (14.53)
* Neuropathy, hereditary sensory and autonomic, type 1 - HSAN1 (14.53)
| SET binding factor 2 | | * charcot-marie-tooth disease, type 4b2 - CMT4B2 (14.17)
| SIL1 homolog, endoplasmic reticulum chaperone | | * Marinesco-Sjogren syndrome - MSS (13.50)
| skeletal muscle receptor tyrosine kinase | | * Congenital myasthenic syndrome with MuSK deficiency - CMS1B (11.14)
| slow troponin C | | * Cardiomyopathy, dilated, 1Z - CMD1Z (10.12, 10.50)
* Familial hypertrophic cardiomyopathy, 13 - CMH13 (10.12, 10.50)
| slow troponin T | | * Nemaline myopathy 5 - NEM5 (3.6)
| sodium channel, voltage-gated, type IV, alpha | | * Sodium-channel myasthenia - (7.3, 7.4, 7.5, 7.6, 11.20)
* Paramyotonia congenita of Von Eulenburg - PMC (7.3, 7.4, 7.5, 7.6, 11.20)
* Hyperkalemic periodic paralysis - HYPP (7.3, 7.4, 7.5, 7.6, 11.20)
* Potassium-aggravated myotonia - (7.3, 7.4, 7.5, 7.6, 11.20)
* Myotonia potassium-aggravatd - (7.3, 7.4, 7.5, 7.6, 11.20)
* Hyperkalemic periodic paralysis, type 2 - HOKPP2 (7.3, 7.4, 7.5, 7.6, 11.20)
| solute carrier family 22 member 5 | | * Carnitine deficiency, systemic primary - CDSP (9.16)
| solute carrier family 33 (acetyl- CoA transporter) | | * Spastic paraplegia 42, autosomal dominant - SPG42 (15.18)
| spartin | | * Spastic paraplegia 20 - SPG20 (15.25)
| spastin | | * Familial spastic paraplegia, autosomal dominant, 2 - FSP2 (15.2)
* Spastic paraplegia 4 - SPG4 (15.2)
| spastizin | | * Spastic paraplegia 15 - SPG15 (15.23)
| spatacsin | | * Spastic paraplegia 11 - SPG11 (15.21)
| spectrin repeat containing, nuclear envelope 1 (nesprin 1) | | * Dilated cardiomyopathy with nesprin-1 defect - (1.6, 10.64, 13.47, 16.14)
* Spinocerebellar ataxia, autosomal recessive 8 - SCAR8 (1.6, 10.64, 13.47, 16.14)
* Emery-dreifuss muscular dystrophy 4 - EDMD4 (1.6, 10.64, 13.47, 16.14)
| spectrin repeat containing, nuclear envelope 2 (nesprin 2) | | * Nesprin-2 related muscular dystrophy - EDMD (1.7)
| spectrin, beta, non-erythrocytic 2 | | * Spinocerebellar ataxia 5 - SCA5 (13.5)
| strumpellin | | * Spastic paraplegia 8 - SPG8 (15.4)
| succinate-CoA ligase, ADP-forming, beta subunit | | * Mitochondrial dna depletion syndrome, myopathic form - MDDS4 (16.22)
| superoxide dismutase 1, soluble | | * Amyotrophic lateral sclerosis 1 - ALS1 (12.21, 12.22)
* Amyotrophic lateral sclerosis, due to SOD1 deficiency - ALS (12.21, 12.22)
| 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)
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