Gene product table



Protein
Gene Symbol
All allelic disease phenotypes - locus/disease symbols
Sac domain-containing inositol phosphatase 3
FIG4 (6q21)


* charcot-marie-tooth disease, type 4j - CMT4J (12.49, 14.28)
* Amyotrophic lateral sclerosis 11 - ALS11 (12.49, 14.28)
Sacsin
SACS (13q12)


* Autosomal recessive spastic ataxia of Charlevoix-Saguenay - ARSACS (13.65, 15.72)
* Spastic ataxia 6 autosomal recessive Charlevoix-Saguenay type - SPAX6 (13.65, 15.72)
Sarcoglycan, epsilon
SGCE (7q21-q22)


* Myoclonus-dystonia syndrome - DYT11 (16.2)
Seipin
BSCL2 (11q12-q13.5)


* Spastic paraplegia 17 - SPG17 (12.15, 15.9)
* Neuronopathy, distal hereditary motor, type V - HMN5 (12.15, 15.9)
Selenoprotein N1
SEPN1 (1p36.13)


* Rigid spine syndrome related to SEPN1 - RSS (2.13, 3.12, 3.26, 5.3)
* myopathy, congenital, with fiber-type disproportion - CFTD (2.13, 3.12, 3.26, 5.3)
* Multiminicore disease, classical form - (2.13, 3.12, 3.26, 5.3)
* Muscular dystrophy, rigid spine, 1 - RSMD1 (2.13, 3.12, 3.26, 5.3)
* Desmin-related myopathy with Mallory bodies - RSMD1 (2.13, 3.12, 3.26, 5.3)
* Rigid spine syndrome - RSMD1 (2.13, 3.12, 3.26, 5.3)
Senataxin
SETX (9q34.13)


* Neuropathy, distal hereditary motor, with pyramidal features - ALS4 (12.40, 13.51)
* ATAXIA-oculomotor apraxia 2 - AOA2 (12.40, 13.51)
* Spinocerebellar ataxia, autosomal recessive 1 - SCAR1 (12.40, 13.51)
Septin 9
SEPT9 (17q25)


* Familial brachial plexus neuropathy - HNA (14.95)
Sequestosome 1
SQSTM1 (5q35.3)


* Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS3 (12.64)
Serine palmitoyltransferase long chain base subunit 2
SPTLC2 (14q24.3)


* Neuropathy, hereditary sensory and autonomic, type IC - HSAN1C (14.78)
Serine palmitoyltransferase subunit 1
SPTLC1 (9q22.2)


* Neuropathy, hereditary sensory, type 1 - HSN1 (14.76)
* Neuropathy, hereditary sensory and autonomic, type 1 - HSAN1 (14.76)
SET binding factor 1
SBF1 (22q13.33)


* Charcot-Marie-Tooth neuropathy Type 4B3 - CMT4B3 (14.20)
SET binding factor 2
SBF2 (11p15.4)


* charcot-marie-tooth disease, type 4b2 - CMT4B2 (14.19)
Sigma non-opioid intracellular receptor 1
SIGMAR1 (9p13.3)

* Amyotrophic lateral sclerosis 16, juvenile - ALS16 (12.54)
SIL1 homolog, endoplasmic reticulum chaperone
SIL1 (5q31)


* Marinesco-Sjogren syndrome - MSS (13.61)
Slow troponin C
TNNC1 (3p21.3-p14.3)


* Cardiomyopathy, dilated, 1Z - CMD1Z (10.12, 10.53)
* Familial hypertrophic cardiomyopathy, 13 - CMH13 (10.12, 10.53)
Slow troponin T
TNNT1 (19q13.4)


* Nemaline myopathy 5 - NEM5 (3.5)
Sodium channel, voltage-gated, type I, beta subunit
SCN1B (19q13.12)


* Brugada syndrome 5 - BRGDA5 (10.131, 10.138)
* Atrial fibrillation, 13 - ATFB13 (10.131, 10.138)
Sodium channel, voltage-gated, type II, beta subunit
SCN2B (11q23.3)


* Atrial fibrillation, 14 - ATFB14 (10.132)
Sodium channel, voltage-gated, type III, beta subunit
SCN3B (11 q24.1)


* Brugada syndrome 7 - BRGDA7 (10.140)
Sodium channel, voltage-gated, type IV, alpha
SCN4A (17q23-q25.3)


* 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)
* Myasthenic syndrome, acetazolamide-responsive - (7.3, 7.4, 7.5, 7.6, 11.20)
Sodium channel, voltage-gated, type IV, beta subunit
SCN4B (11q23.3)


* Long QT syndrome 10 - LQT10 (10.111)
sodium voltage-gated channel alpha subunit 11
SCN11A (3p22.2)


* Neuropathy, hereditary sensory and autonomic, type VII - HSAN7 (14.89)
sodium voltage-gated channel alpha subunit 9
SCN9A (2q24.3)


* Neuropathy, hereditary sensory and autonomic, type IID - HSAN2D (14.84)
Solute carrier family 22 member 5
SLC22A5 (5q31)


* Carnitine deficiency, systemic primary - CDSP (9.17)
solute carrier family 25 member 42(M)
SLC25A42 (19p13.11)


* Mitochondrial myopathy - (16.24)
Solute carrier family 33 (acetyl- CoA transporter)
SLC33A1 (3q25.3)


* Spastic paraplegia 42, autosomal dominant - SPG42 (15.18)
Solute carrier family 5 (sodium/choline cotransporter), member 7
SLC5A7 (2q12.31)


* Motor neuropathy, distal, with vocal cord paralysis - HMN7 (11.30, 12.17)
* Congenital myasthenic syndrome with episodic apnea - CMS20 (11.30, 12.17)
Solute carrier family 52, riboflavin transporter, member 2
SLC52A2 (8q24)

* Brown-Vialetto-Van Laere syndrome 2 - BVVLS2 (12.72)
Solute carrier family 52, riboflavin transporter, member 3
SLC52A3 (20p13)

* Brown-Vialetto-Van Laere syndrome 1 - BVVLS1 (12.71)
Spartin
SPG20 (13q12.3)


* Spastic paraplegia 20 - SPG20 (15.26)
Spastin
SPAST (2p24-p21)


* Familial spastic paraplegia, autosomal dominant, 2 - FSP2 (15.2)
* Spastic paraplegia 4 - SPG4 (15.2)
Spastizin
ZFYVE26 (14q24.1)

* Spastic paraplegia 15 - SPG15 (15.24)
Spatacsin
SPG11 (15q21.1)


* Amyotrophic lateral sclerosis 5 - ALS5 (12.41, 14.61, 15.22)
* Spastic paraplegia 11 - SPG11 (12.41, 14.61, 15.22)
* Charcot-Marie-Tooth neuropathy Type 2X - CMT2X (12.41, 14.61, 15.22)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)
SYNE1 (6q25)


* Dilated cardiomyopathy related to nesprin-1 - (1.6, 10.67, 13.57, 16.14)
* Spinocerebellar ataxia, autosomal recessive 8 - SCAR8 (1.6, 10.67, 13.57, 16.14)
* Emery-dreifuss muscular dystrophy 4 - EDMD4 (1.6, 10.67, 13.57, 16.14)
Spectrin repeat containing, nuclear envelope 2 (nesprin 2)
SYNE2 (14q23.2)


* Nesprin-2 related muscular dystrophy - EDMD (1.7)
Spectrin, beta, non-erythrocytic 2
SPTBN2 (11q13)


* Spinocerebellar ataxia 5 - SCA5 (13.5)
SPEG complex locus
SPEG (2q35)


* Centronuclear myopathy with dilated cardiomyopathy - (3.22)
STIP1 homology and U-box containing protein 1
STUB1 (16p13.3)


* Spinocerebellar ataxia, autosomal recessive 16 - SCAR16 (13.59)
Stromal interaction molecule 1
STIM1 (11p15.4)


* Tubular aggregate myopathy 1 - TAM1 (16.26)
Structural maintenance of chromosomes flexible hinge domain containing 1
SMCHD1 (18p11.32)


* Facio-scapulo-humeral muscular dystrophy, type 2 - FSHMD1B (1.11)
Strumpellin
KIAA0196 (8q24.13)


* Spastic paraplegia 8 - SPG8 (15.4)
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)(M)
SDHA (5p15)


* Recessive neonatal isolated DC - (10.71)
* Cardiomyopathy, dilated, 1GG - CMD1GG (10.71)
Succinate-CoA ligase, ADP-forming, beta subunit(M)
SUCLA2 (13q12.2-q13.3)


* Mitochondrial dna depletion syndrome, myopathic form - MDDS4 (16.22)
Superoxide dismutase 1, soluble
SOD1 (21q22.1)


* Amyotrophic lateral sclerosis 1 - ALS1 (12.36, 12.37)
* Amyotrophic lateral sclerosis, due to SOD1 deficiency - ALS (12.36, 12.37)
surfeit 1(M)
SURF1 (9q34.2)


* Charcot-Marie-Tooth neuropathy Type 4K - CMT4K (14.29)
Survival of motor neuron 1, telomeric
SMN1 (5q13)


* 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
SNAP25 (20p12.2)


* Congenital myasthenic syndrome with intellectual disability and ataxia - CMS18 (11.28)
Synaptotagmin II
SYT2 (1q32.1)


* Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy - MYSPC (11.25)
Syntrophin, alpha 1
SNTA1 (20q11.21)


* Long QT syndrome 12 - LQT12 (10.113)