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 (12.57, 14.33)
* Amyotrophic lateral sclerosis 11 - ALS11 (12.57, 14.33)
Sacsin
SACS (13q12)


* Charcot-Marie-Tooth disease, axonal; related to SACS - (13.96, 14.95, 15.81)
* Autosomal recessive spastic ataxia of Charlevoix-Saguenay - ARSACS (13.96, 14.95, 15.81)
* Spastic ataxia Charlevoix-Saguenay type - SPAX6 (13.96, 14.95, 15.81)
* Spastic ataxia, Charlevoix-Saguenay type - SACS (13.96, 14.95, 15.81)
Sarcoglycan, epsilon
SGCE (7q21-q22)


* Myoclonus-dystonia syndrome - DYT11 (16.2)
SCY1 like pseudokinase 1
SCYL1 (11q13.1)


* Spinocerebellar ataxia, autosomal recessive 21 - SCAR21 (13.77)
Seipin
BSCL2 (11q12-q13.5)


* Spastic paraplegia 17 - SPG17 (12.25, 15.9)
* Neuronopathy, distal hereditary motor, type VC - HMN5C (12.25, 15.9)
Selenoprotein N1
SELENON (1p36.13)


* Rigid spine syndrome related to SEPN1 - RSS (2.13, 3.16, 3.32, 5.13)
* myopathy, congenital, with fiber-type disproportion - CFTD (2.13, 3.16, 3.32, 5.13)
* Multiminicore disease, classical form - (2.13, 3.16, 3.32, 5.13)
* Muscular dystrophy, rigid spine, 1 - RSMD1 (2.13, 3.16, 3.32, 5.13)
* Desmin-related myopathy with Mallory bodies - RSMD1 (2.13, 3.16, 3.32, 5.13)
* Rigid spine syndrome - RSMD1 (2.13, 3.16, 3.32, 5.13)
Senataxin
SETX (9q34.13)


* Neuropathy, distal hereditary motor, with pyramidal features - ALS4 (12.50, 13.89)
* Spinocerebellar ataxia, autosomal recessive 1 - SCAR1 (12.50, 13.89)
* Spinocerebellar ataxia with axonal neuropathy type 2 - SCAN2 (12.50, 13.89)
Septin 9
SEPT9 (17q25)


* Familial brachial plexus neuropathy - HNA (14.125)
Sequestosome 1
SQSTM1 (5q35.3)


* Welander-like distal myopathy - (4.15, 4.24, 12.77)
* Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS3 (4.15, 4.24, 12.77)
* Myopathy, distal, with rimmed vacuoles - DMRV (4.15, 4.24, 12.77)
Serine palmitoyltransferase long chain base subunit 2
SPTLC2 (14q24.3)


* Neuropathy, hereditary sensory and autonomic, type IC - HSAN1C (14.102)
Serine palmitoyltransferase subunit 1
SPTLC1 (9q22.2)


* Amyotrophic lateral sclerosis - (12.80, 14.100)
* Neuropathy, hereditary sensory, type 1 - HSN1 (12.80, 14.100)
* Neuropathy, hereditary sensory and autonomic, type 1 - HSAN1 (12.80, 14.100)
SET binding factor 1
SBF1 (22q13.33)


* Charcot-Marie-Tooth neuropathy Type 4B3 - CMT4B3 (14.25)
SET binding factor 2
SBF2 (11p15.4)


* charcot-marie-tooth disease, type 4b2 - CMT4B2 (14.24)
SH3 and cysteine rich domain 3
STAC3 (12q13.3)


* Myopathy, congenital, with malignant hyperthermia susceptibility - (3.54, 3.55)
* Myopathy, congenital, Bailey-Bloh - MYPBB (3.54, 3.55)
Sigma non-opioid intracellular receptor 1
SIGMAR1 (9p13.3)

* spinal muscular atrophy, distal, autosomal recessive, 2 - DSMA2 (12.6, 12.62)
* Amyotrophic lateral sclerosis 16, juvenile - ALS16 (12.6, 12.62)
SIL1 homolog, endoplasmic reticulum chaperone
SIL1 (5q31)


* Marinesco-Sjogren syndrome - MSS (13.91)
Slow troponin C
TNNC1 (3p21.3-p14.3)


* Cardiomyopathy, dilated, 1Z - CMD1Z (10.12, 10.63)
* Familial hypertrophic cardiomyopathy, 13 - CMH13 (10.12, 10.63)
Slow troponin T
TNNT1 (19q13.4)


* Nemaline myopathy 5 - NEM5 (3.5)
Small Muscle Protein, X-linked
SMPX (Xp22.12)


* Myopathy, distal, 7 adult onset, X-linked - MPD7 (4.11)
Sodium channel, voltage-gated, type I, beta subunit
SCN1B (19q13.11)


* Brugada syndrome 5 - BRGDA5 (10.166, 10.177)
* Atrial fibrillation, 13 - ATFB13 (10.166, 10.177)
Sodium channel, voltage-gated, type II, beta subunit
SCN2B (11q23.3)


* Atrial fibrillation, 14 - ATFB14 (10.167)
Sodium channel, voltage-gated, type III, beta subunit
SCN3B (11 q24.1)


* Brugada syndrome 7 - BRGDA7 (10.169, 10.179)
* Atrial fibrillation, 16 - ATFB16 (10.169, 10.179)
Sodium channel, voltage-gated, type IV, alpha
SCN4A (17q23-q25.3)


* Sodium-channel myasthenia - (3.62, 7.3, 7.4, 7.6, 7.7, 11.24, 16.32)
* Severe foetal hypokinesia related to SCN4A - (3.62, 7.3, 7.4, 7.6, 7.7, 11.24, 16.32)
* Paramyotonia congenita of Von Eulenburg - PMC (3.62, 7.3, 7.4, 7.6, 7.7, 11.24, 16.32)
* Hyperkalemic periodic paralysis - HYPP (3.62, 7.3, 7.4, 7.6, 7.7, 11.24, 16.32)
* Potassium-aggravated myotonia - (3.62, 7.3, 7.4, 7.6, 7.7, 11.24, 16.32)
* Myotonia potassium-aggravatd - (3.62, 7.3, 7.4, 7.6, 7.7, 11.24, 16.32)
* Hyperkalemic periodic paralysis, type 2 - HOKPP2 (3.62, 7.3, 7.4, 7.6, 7.7, 11.24, 16.32)
* Myasthenic syndrome, acetazolamide-responsive - (3.62, 7.3, 7.4, 7.6, 7.7, 11.24, 16.32)
* Myasthenic syndrome, congenital, 16 - CMS16 (3.62, 7.3, 7.4, 7.6, 7.7, 11.24, 16.32)
Sodium channel, voltage-gated, type IV, beta subunit
SCN4B (11q23.3)


* Long QT syndrome 10 - LQT10 (10.141, 10.170)
* Atrial fibrillation, 17 - ATFB17 (10.141, 10.170)
Sodium voltage-gated channel alpha subunit 11
SCN11A (3p22.2)


* Neuropathy, hereditary sensory and autonomic, type VII - HSAN7 (14.110, 14.120)
* Episodic pain syndrome, familial 3 - FEPS3 (14.110, 14.120)
Sodium voltage-gated channel alpha subunit 9
SCN9A (2q24.3)


* Erythromelalgia, Primary - SFNP (14.105, 14.119)
* Neuropathy, hereditary sensory and autonomic, type IID - HSAN2D (14.105, 14.119)
Solute carrier family 16, member 1 (monocarboxylic acid transporter 1)
SLC16A1 (1p13.2)


* Erythrocyte lactate transporter defect - (9.18)
Solute Carrier Family 18 (Vesicular Acetylcholine), Member 3
SLC18A3 (10q11.2)


* Myasthenic Syndrome, Congenital, 21, Presynaptic - CMS21 (11.29)
Solute carrier family 22 member 5
SLC22A5 (5q31)


* Carnitine deficiency, systemic primary - CDSP (9.20)
Solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1(M)
SLC25A1 (22q11.21)


* Presynaptic congenital myasthenic syndrome 23 - CMS23 (11.31)
Solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 26
SLC25A26 (3p14.1)


* Mitochondrial myopathy related to SLC25A26 - (16.88)
Solute carrier family 25 member 42(M)
SLC25A42 (19p13.11)


* Mitochondrial myopathy - (16.58)
* Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression - MECREN (16.58)
solute carrier family 25 member 46(M)
SLC25A46 (5q22.1)


* Neuropathy, hereditary motor and sensory, type VIB - HSMN6B (12.95)
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)


* Neuronopathy, distal hereditary motor, type VIIA, with vocal cord paralysis (Harper-Young) - HMN7A (11.28, 12.26)
* Congenital myasthenic syndrome with episodic apnea - CMS20 (11.28, 12.26)
Solute carrier family 52, riboflavin transporter, member 2
SLC52A2 (8q24)

* Brown-Vialetto-Van Laere syndrome 2 - BVVLS2 (12.97)
Solute carrier family 52, riboflavin transporter, member 3
SLC52A3 (20p13)

* Brown-Vialetto-Van Laere syndrome 1 - BVVLS1 (12.96)
Solute carrier family 9, member 1
SLC9A1 (1p36.11)


* Spinocerebellar ataxia, autosomal recessive 19 - SCAR19 (13.75)
Solute carrier family 9, member 3, regulator 1
SLC9A3R1 (17q25.1)


* Hereditary peripheral neuropathy - (14.132)
Sorbitol Dehydrogenase
SORD (15q21.1)


* Sorbitol dehydrogenase deficiency with peripheral neuropathy - SORDD (14.96)
sorting nexin 14
SNX14 (6q14.3)


* Spinocerebellar ataxia, autosomal recessive 20 - SCAR20 (13.76)
Spartin
SPG20 (13q12.3)


* Spastic paraplegia 20 - SPG20 (15.30)
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 (15.28)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)
SYNE1 (6q25)


* Dilated cardiomyopathy related to nesprin-1 - (1.5, 10.89, 13.64, 16.22)
* Spinocerebellar ataxia, autosomal recessive 8 - SCAR8 (1.5, 10.89, 13.64, 16.22)
* Emery-dreifuss muscular dystrophy 4 - EDMD4 (1.5, 10.89, 13.64, 16.22)
* Arthrogryposis multiplex congenita with nesprin-1 defect - AMCM (1.5, 10.89, 13.64, 16.22)
Spectrin repeat containing, nuclear envelope 2 (nesprin 2)
SYNE2 (14q23.2)


* Nesprin-2 related muscular dystrophy - EDMD (1.6)
Spectrin, alpha, nonerythrocytic 1
SPTAN1 (9q34.11)


* Distal motor neuropathy - (12.40)
Spectrin, Beta, Nonerythrocytic, 2
SPTBN2 (11q13.2)


* Spinocerebellar ataxia 5 - SCA5 (13.5, 13.70)
* Spinocerebellar ataxia, autosomal recessive 14 - SCAR14 (13.5, 13.70)
Spectrin, Beta, Nonerythrocytic, 4
SPTBN4 (19q13)


* Myopathy, Congenital, With Neuropathy And Deafness - CMND (3.51)
SPEG complex locus
SPEG (2q35)


* Centronuclear myopathy 5 - CNM5 (3.26)
SPG11 vesicle trafficking associated, Spatacsin
SPG11 (15q21.1)


* Amyotrophic lateral sclerosis 5 - ALS5 (12.51, 14.91, 15.26)
* Spastic paraplegia 11 - SPG11 (12.51, 14.91, 15.26)
* Charcot-Marie-Tooth neuropathy Type 2X - CMT2X (12.51, 14.91, 15.26)
Sphingomyelin phosphodiesterase 4, neutral membrane
SMPD4 (2q21.1)


* Neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies - NEDMABA (16.25)
Sphingosine-1-Phosphate Lyase 1
SGPL1 (10q22.1)


* Charcot-Marie-Tooth disease, axonal - (14.93)
Sterile Alpha Motif Domain-Containing Protein 9-Like
SAMD9L (7q21.2)

* Ataxia-pancytopenia syndrome - ATXPC (13.45, 13.53)
* Spinocerebellar ataxia 49 - SCA49 (13.45, 13.53)
STIP1 homology and U-box containing protein 1
STUB1 (16p13.3)


* Spinocerebellar ataxia, autosomal recessive 16 - SCAR16 (13.44, 13.72)
* Spinocerebellar ataxia 48 - SCA48 (13.44, 13.72)
Stromal interaction molecule 1
STIM1 (11p15.4)


* Muscle weakness with hyperlaxity, orofacial abnormalities and respiratory infections - (5.38, 5.43)
* Tubular aggregate myopathy 1 - TAM1 (5.38, 5.43)
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 - (10.70)
* Cardiomyopathy, dilated, 1GG - CMD1GG (10.70)
Succinate-CoA ligase, ADP-forming, beta subunit(M)
SUCLA2 (13q12.2-q13.3)


* Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) - MTDPS5 (16.49)
Succinate-CoA ligase, alpha subunit(M)
SUCLG1 (2p11.2)


* Mitochondrial DNA depletion syndrome 9 (Encephalomyopathic type withmethylmalonic aciduria) - MTDPS9 (16.52)
Superoxide dismutase 1, soluble
SOD1 (21q22.1)


* Amyotrophic lateral sclerosis 1 - ALS1 (12.46, 12.47)
* Amyotrophic lateral sclerosis, due to SOD1 deficiency - ALS (12.46, 12.47)
Supervillin
SVIL (10p11.23)


* Myofibrillar myopathy 10 - MFM10 (5.11)
Surfeit 1(M)
SURF1 (9q34.2)


* Charcot-Marie-Tooth neuropathy Type 4K - CMT4K (14.34)
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 (11.26)
Synaptotagmin 14
SYT14 (1q32.2)


* Spinocerebellar ataxia, autosomal recessive 11 - SCAR11 (13.67)
Synaptotagmin II
SYT2 (1q32.1)


* Distal motor neuropathy related to SYT2 - (11.14, 11.15, 12.39)
* Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy - MYSPC (11.14, 11.15, 12.39)
* Myasthenic syndrome, congenital, 7, presynaptic and distal motor neuropathy, autosomal dominant - CMS7A (11.14, 11.15, 12.39)
* Myasthenic syndrome, congenital, 7B, presynaptic - CMS7B (11.14, 11.15, 12.39)
Syntrophin, alpha 1
SNTA1 (20q11.21)


* Long QT syndrome 12 - LQT12 (10.143)