Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Sarcotubular myopathy (1.28, 3.43)
TRIM32 (9q33.2)
Tripartite motif-containing 32



Scapuloperoneal muscular dystrophy and dropped head syndrome (5.25, 4.17, 12.52, 1.47)
600416
VCP (9p13-p12)
Valosin-containing protein



Scapuloperoneal myopathy, X-linked dominant (1.3, 5.21, 5.22, 2.14, 5.23)
300695
FHL1 (Xq26.3)
Four and a half LIM domain 1



Scapuloperoneal spinal muscular atrophy (12.24, 12.25, 14.43)
181405
TRPV4 (12q23-q24)
Transient receptor potential cation channel, subfamily V, member 4



Schwartz-Jampel syndrome, type 1 (6.8)
255800
HSPG2 (1p36.1-p34)
Perlecan



Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (16.16, 13.62)
607459
POLG (15q25)
Polymerase (DNA directed), gamma (M)



Severe autosomal-recessive nemaline myopathy (3.8)
615348
KLHL40 (2p22.1)
Kelch-like family member 40



Short qt syndrome 1 (10.103, 7.15, 10.115)
609620
KCNH2 (7q35-q36)
Voltage-gated potassium channel, subfamily H, member 2



Sick Sinus Syndrome 1, autosomal recessive (10.104, 7.7, 10.35, 10.134, 10.141)
608567
SCN5A (3p21)
Voltage-gated sodium channel type V alpha



Sick Sinus Syndrome 2, autosomal dominant (10.142)
163800
HCN4 (15q24.1)
Hyperpolarization activated cyclic nucleotide-gated potassium channel 4



Sjogren-Larsson syndrome (15.61)
270200
ALDH3A2 (17p11.2)
Aldehyde dehydrogenase 3A2



Slowed nerve conduction velocity, autosomal dominant (14.9)
608236
ARHGEF10 (8p23)
Rho guanine nucleotide exchange factor 10



Sodium-channel myasthenia (7.3, 7.5, 7.4, 7.6, 11.20)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



Spastic ataxia 4 autosomal recessive (15.70)
613672
MTPAP (10p12.1)
mitochondrial poly(A) polymerase (M)



Spastic ataxia 5 autosomal recessive (13.26, 15.71)
614487
AFG3L2 (18p11-q11)
AFG3 ATPase family gene 3-like 2 (S. cerevisiae) 1 (M)



Spastic ataxia 6 autosomal recessive Charlevoix-Saguenay type (15.72, 13.65)
270550
SACS (13q12)
Sacsin



Spastic paralysis, infantile onset ascending (12.38, 15.62)
607225
ALS2 (2q33.2)
Alsin



Spastic paraplegia 2 (15.64)
312920
PLP1 (Xq22)
Proteolipid protein 1



Spastic paraplegia 3A (182600
Spastic paraplegia 4 (15.2)
182601
SPAST (2p24-p21)
Spastin



Spastic paraplegia 5A (15.19)
270800
CYP7B1 (8p12-q13)
Cytochrome P450, family 7, subfamily B, polypeptide 1



Spastic paraplegia 6 uncomplicated,autosomal dominant,Strumpell-Lorrain type (15.3)
600363
NIPA1 (15q11.2)
Non-imprinted in Prader-Willi/Angelman syndrome 1



Spastic paraplegia 7 (15.20)
607259
SPG7 (16q24.3)
Paraplegin (M)



Spastic paraplegia 8 (15.4)
603563
KIAA0196 (8q24.13)
Strumpellin



Spastic paraplegia 9 (15.5, 15.21)
601162
ALDH18A1 (10q24.1)
Delta-1-pyrroline-5-carboxylate synthase (M)



Spastic paraplegia 10 (15.6, 14.65)
604187
KIF5A (12q13.13)
Kinesin family member 5A



Spastic paraplegia 11 (15.22, 12.41, 14.61)
604360
SPG11 (15q21.1)
Spatacsin



Spastic paraplegia 12 (15.7)
604805
RTN2 (19q13)
Reticulon 2



Spastic paraplegia 13 (15.8)
605280
HSPD1 (2q33.1)
Heat shock 60kDa protein 1 (chaperonin) (M)



Spastic paraplegia 14 (15.23)
605229
? - (3q27-q28)
Spastic paraplegia 15 (15.24)
270700
ZFYVE26 (14q24.1)
Spastizin



Spastic paraplegia 16 (15.65)
300266
? - (Xq11.2)
Spastic paraplegia 17 (15.9, 12.15)
270685
BSCL2 (11q12-q13.5)
Seipin



Spastic paraplegia 18 (15.25)
611225
ERLIN2 (8p12-p11.21)
ER lipid raft associated 2



Spastic paraplegia 19 (15.10)
607152
? - (9q33-q34)
Spastic paraplegia 20 (15.26)
275900
SPG20 (13q12.3)
Spartin



Spastic paraplegia 20 (15.27)
248900
SPG21 (15q21-q22)
Maspardin



Spastic paraplegia 20 (15.33)
609340
DDHD1 (14q21)
DDHD domain containing 1



Spastic paraplegia 23 (15.28)
270750
? - (1q24-q32)
Spastic paraplegia 24 (15.29)
607584
? - (13q14)
Spastic paraplegia 25 (15.30)
608220
? - (6q23.3-q24.1)
Spastic paraplegia 26 (15.31)
609195
B4GALNT1 (12q13.3)
beta-1,4-N-acetyl-galactosaminyl transferase 1



Spastic paraplegia 27 (15.32)
609041
? - (10q22-q24)
Spastic paraplegia 29 (15.11)
609727
? - (1p31-p21)
Spastic paraplegia 3, autosomal dominant (Strumpell disease) (15.1, 14.79)
182600
ATL1 (14q22.1)
Atlastin GTPase 1



Spastic paraplegia 30 (15.34, 14.83)
610357
KIF1A (2q37.3)
Kinesin family member 1A



Spastic paraplegia 31 (15.12, 12.16)
610250
REEP1 (2p11.2)
Receptor accessory protein 1 (M)



spastic paraplegia 32, autosomal recessive (15.35)
611252
? - (14q12-q21)
Spastic paraplegia 33 (15.13)
610244
ZFYVE27 (10q24.2)
Protrudin



Spastic paraplegia 34, X-linked (15.66)
300750
? - (Xq24-q25)
Spastic paraplegia 35, autosomal recessive (15.36)
612319
FA2H (16q21-q23.1)
Fatty acid 2-hydroxylase



Spastic paraplegia 36, autosomal dominant (15.14)
613096
? - (12q23-q24)
Spastic paraplegia 37, autosomal dominant (15.15)
611945
? - (8p21.1-q13.3)
Spastic paraplegia 38, autosomal dominant (15.16)
612335
? - (4p16-p15)
Spastic paraplegia 39, autosomal recessive (15.37)
612020
PNPLA6 (19p13.3-p13.2)
Patatin-like phospholipase domain containing 6



Spastic paraplegia 41, autosomal dominant (15.17)
613364
? - (11p14.1-p11.2)
Spastic paraplegia 42, autosomal dominant (15.18)
612539
SLC33A1 (3q25.3)
Solute carrier family 33 (acetyl- CoA transporter)



Spastic paraplegia 43, autosomal recessive (15.38)
615043
C19orf12 (19q12)
chromosome 19 open reading frame 12 (M)



Spastic paraplegia 44, autosomal recessive (15.39)
613206
GJC2 (1q42.13)
gap junction protein, gamma 2, 47kDa



Spastic paraplegia 45, autosomal recessive (15.40)
613162
NT5C2 (10q24-q32)
5'-nucleotidase, cytosolic II



Spastic paraplegia 46, autosomal recessive (15.41)
614409
GBA2 (9p13.3)
glucosidase, beta (bile acid) 2



Spastic paraplegia 47, autosomal recessive (15.42)
AP4B1 (1p13.2)
adaptor-related protein complex 4, beta 1 subunit



Spastic paraplegia 48, autosomal recessive (15.43)
613647
AP5Z1 (7p22.2)
Hypothetical protein LOC9907 ?



Spastic paraplegia 49, autosomal recessive (15.44)
TECPR2 (14q32)
tectonin beta-propeller repeat containing 2



Spastic paraplegia 50, autosomal recessive (15.45)
612936
AP4M1 (7q22.1)
Adaptor-related protein complex 4, mu 1 subunit



Spastic paraplegia 51, autosomal recessive (15.46)
613744
AP4E1 (15q21.2)
Adaptor-related protein complex 5, zeta 1 subunit



Spastic paraplegia 52, autosomal recessive (15.47)
614067
AP4S1 (14q12)
adaptor-related protein complex 4, sigma 1 subunit



Spastic paraplegia 53, autosomal recessive (15.48)
614898
VPS37A (8p22)
Vacuolar protein sorting-associated protein 37A



Spastic paraplegia 54, autosomal recessive (15.49)
615033
DDHD2 (8p11.23)
DDHD domain containing 2



Spastic paraplegia 55, autosomal recessive (15.50)
615035
C12orf65 (12q24.31)
adaptor-related protein complex 4, sigma 1 subunit (M)



Spastic paraplegia 56, autosomal recessive (15.51)
615030
CYP2U1 (4q25)
cytochrome P450, family 2, subfamily U, polypeptide 1



Spastic paraplegia 57, autosomal recessive (14.63, 15.52)
615158
TFG (3q13)
TRK-fused gene



Spastic paraplegia 61, autosomal recessive (15.53)
615685
ARL6IP1 (16p12.3)
ADP-ribosylation factor-like 6 interacting protein 1



Spastic paraplegia 62 autosomal recessive (15.54)
615681
ERLIN1 (10q24.31)
ER lipid raft associated 1 (Erlin-1)



Spastic paraplegia 63, autosomal recessive (15.55)
615686
AMPD2 (1p13.3)
adenosine monophosphate deaminase 2



Spastic paraplegia 64, autosomal recessive (15.56)
615683
ENTPD1 (10q24.1)
ectonucleoside triphosphate diphosphohydrolase 1



Spastic paraplegia 74, autosomal recessive (15.57)
616451
IBA57 (1q42.13)
IBA57 homolog, iron-sulfur cluster assembly (M)



Spastic paraplegia 75, autosomal recessive (15.58)
616680
MAG (19q13.12)
myelin associated glycoprotein



Spastic paraplegia 76, autosomal recessive (15.59)
616907
CAPN1 (11q13.1)
Calpain 1



Spastic paraplegia 77, autosomal recessive (15.60)
617046
FARS2 (6p25.1)
Phenylalanine--tRNA ligase (M)



Spastic paraplegia 9A, autosomal recessive (15.5, 15.21)
616586
ALDH18A1 (10q24.1)
Delta-1-pyrroline-5-carboxylate synthase (M)



Spheroid body myopathy (1.13, 5.6, 5.7, 4.9)
182920
MYOT (5q31)
Myotilin



Spinal and bulbar muscular atrophy of Kennedy (12.65)
313200
AR (Xq11.2-q12)
Androgen receptor



Spinal motor neuropathy (12.23)
RBM7 (11q23.2)
RNA binding motif protein 7



Spinal muscular atrophy 1 (12.1, 12.3, 12.2, 12.4)
253300
SMN1 (5q13)
Survival of motor neuron 1, telomeric



Spinal muscular atrophy 2 (12.1, 12.3, 12.2, 12.4)
253550
SMN1 (5q13)
Survival of motor neuron 1, telomeric



Spinal muscular atrophy 3 (12.1, 12.3, 12.2, 12.4)
253400
SMN1 (5q13)
Survival of motor neuron 1, telomeric



Spinal muscular atrophy 4 (12.1, 12.3, 12.2, 12.4)
271150
SMN1 (5q13)
Survival of motor neuron 1, telomeric



Spinal muscular atrophy and cerebellar hypoplasia (12.33)
EXOSC8 (13q13.1)
Exosome component 8



Spinal muscular atrophy congenital non progressive of lower limbs (12.24, 12.25, 14.43)
600175
TRPV4 (12q23-q24)
Transient receptor potential cation channel, subfamily V, member 4



Spinal muscular atrophy with congenital bone fractures 1 (2.47, 12.34)
616866
TRIP4 (15q22.31)
thyroid hormone receptor interactor 4



Spinal muscular atrophy with congenital bone fractures 2 (12.35)
616867
ASCC1 (10q22.1)
activating signal cointegrator 1 complex subunit 1



Spinal muscular atrophy with pontocerebellar hypoplasia, type 1b (12.69)
614678
EXOSC3 (9p13.2)
Exosome component 3



Spinal muscular atrophy with progressive myoclonic epilepsy (12.29)
159950
ASAH1 (8p22)
N-acylsphingosine amidohydrolase (acid ceramidase) 1



Spinal muscular atrophy with respiratory distress (12.5, 14.75)
604320
IGHMBP2 (11q13.2-q13.4)
Immunoglobulin mu binding protein 2



Spinal muscular atrophy, congenital benin, with contractures (12.24, 12.25, 14.43)
600175
TRPV4 (12q23-q24)
Transient receptor potential cation channel, subfamily V, member 4



Spinal muscular atrophy, distal related to DNAJB2 (12.22, 14.70)
DNAJB2 (2q32-q34)
DnaJ (Hsp40) homolog, subfamily B, member 2



spinal muscular atrophy, distal, autosomal recessive, 2 (12.6)
605726
? - (9p21)
spinal muscular atrophy, distal, autosomal recessive, 3 (12.7)
607088
? - (11q13)
spinal muscular atrophy, distal, autosomal recessive, 4 (12.8, 14.73)
611067
PLEKHG5 (1p36)
Pleckstrin homology domain containing, family G (with RhoGef domain) member 5



Spinal muscular atrophy, distal, autosomal recessive, 5 (12.22, 14.70)
614881
DNAJB2 (2q32-q34)
DnaJ (Hsp40) homolog, subfamily B, member 2



Spinal muscular atrophy, distal, type V (14.44, 12.14)
600794
GARS (7p15)
Glycyl-tRNA synthetase



Spinal muscular atrophy, distal, x-linked 3 (12.21)
300489
ATP7A (Xq13-q21)
ATPase, Cu++ transporting, alpha polypeptide



Spinal muscular atrophy, distal, Xlinked, related to UBA1 (12.20)
301830
UBA1 (Xp11.23)
Ubiquitin-activating enzyme 1



Spinal muscular atrophy, late-onset, Finkel type (12.46, 12.30)
182980
VAPB (7p15)
Vesicle-associated membrane protein-associated protein B and C



Spinal muscular atrophy, lower extremity, autosomal dominant (14.54, 12.26)
158600
DYNC1H1 (14q32.31)
Dynein, cytoplasmic 1, heavy chain 1



Spinal muscular atrophy, lower extremity, autosomal dominant 2 (12.27)
615290
BICD2 (9q22.31)
Bicaudal D homolog 2 (Drosophila)



Spinocerebellar ataxia 1 (13.1)
164400
ATXN1 (6p23)
Ataxin 1



Spinocerebellar ataxia 2 (13.2, 12.51)
183090
ATXN2 (12q24.1)
Ataxin 2



Spinocerebellar ataxia 3 (13.3)
109150
ATXN3 (14q24.3-q32.2)
Ataxin 3



Spinocerebellar ataxia 4 (13.4)
600223
? - (16q22.1)
Spinocerebellar ataxia 5 (13.5)
600224
SPTBN2 (11q13)
Spectrin, beta, non-erythrocytic 2



Spinocerebellar ataxia 6 (7.9, 13.6, 13.45, 7.10, 13.40)
183086
CACNA1A (19p13.2-p13.1)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit



Spinocerebellar ataxia 7 (13.7)
164500
ATXN7 (3p21.1-p12)
Ataxin 7



Spinocerebellar ataxia 8 (13.8)
603680
ATXN8OS (13q21)
Ataxin 8 opposite strand



Spinocerebellar ataxia 10 (13.9)
603516
ATXN10 (22q13.31)
Ataxin 10



Spinocerebellar ataxia 11 (13.10)
604432
TTBK2 (15q15.2)
Tau tubulin kinase 2



Spinocerebellar ataxia 12 (13.11)
604326
PPP2R2B (5q31-5q32)
Protein phosphatase 2 regulatory subunit B, beta isoform



Spinocerebellar ataxia 13 (13.12)
605259
KCNC3 (19q13.3-q13.4)
Potassium voltage-gated channel, Shaw-related subfamily, member 3



Spinocerebellar ataxia 14 (13.13)
605361
PRKCG (19q13.4)
Protein kinase C, gamma



Spinocerebellar ataxia 15 (13.14)
606658
ITPR1 (3p26.1-p25.3)
Inositol 1,4,5-triphosphate receptor type 1



Spinocerebellar ataxia 17 (13.15)
607136
TBP (6q27)
TATA box binding protein



Spinocerebellar ataxia 18 (13.16)
607458
IFRD1 (7q22-q32)
Interferon-related developmental regulator 1



Spinocerebellar ataxia 19 (13.19)
607454
TMEM240 (1p36.33)
transmembrane protein 240



Spinocerebellar ataxia 19 (13.17)
607346
KCND3 (1p13.2)
Potassium voltage-gated channel, Shal-related subfamily, member 3



Spinocerebellar ataxia 20 (13.18)
608687
? - (11p13)
Spinocerebellar ataxia 21 (13.20)
? - (1p21-q23)
Spinocerebellar ataxia 23 (13.21)
610245
PDYN (20p13-p12-3)
prodynorphin



Spinocerebellar ataxia 24 (13.22)
607317
? - (1p36)
Spinocerebellar ataxia 25 (13.23)
608703
? - (2p21-p13)
Spinocerebellar ataxia 26 (13.24)
609306
EEF2 (19p13.3)
Eukaryotic translation elongation factor 2



Spinocerebellar ataxia 27 (13.25)
609307
FGF14 (13q34)
Fibroblast growth factor 14



Spinocerebellar ataxia 28 (13.26, 15.71)
610246
AFG3L2 (18p11-q11)
AFG3 ATPase family gene 3-like 2 (S. cerevisiae) 1 (M)



Spinocerebellar ataxia 30 (13.28)
613371
? - (4q34.3-q35.1)
Spinocerebellar ataxia 31 (13.33)
614153
NOP56 (20p13)
NOP56 ribonucleoprotein



Spinocerebellar ataxia 32 (13.30)
613371
? - (7q32-q33)
Spinocerebellar ataxia 34 (13.31)
133190
ELOVL4 (6q14.1)
ELOVL fatty acid elongase 4



Spinocerebellar ataxia 35 (13.32)
613908
TGM6 (20p13)
Transglutaminase 6



Spinocerebellar ataxia 37 (13.34)
615915
? - (1p32)
Spinocerebellar ataxia 38 (13.35)
615957
ELOVL5 (6p12.1)
ELOVL fatty acid elongase 5



Spinocerebellar ataxia 40 (13.36)
616053
CCDC88C (14q32.11)
Coiled-coil domain containing 88C



Spinocerebellar ataxia 41 (13.37)
616410
TRPC3 (4q27)
transient receptor potential cation channel subfamily C member 3



Spinocerebellar ataxia 42 (13.38)
616795
CACNA1G (17q21.33)
calcium voltage-gated channel subunit alpha1 G



spinocerebellar ataxia with epilepsy, included (16.16, 13.62)
607459
POLG (15q25)
Polymerase (DNA directed), gamma (M)



spinocerebellar ataxia-31 (13.29)
117210
BEAN1 (16q21)
Brain expressed, associated with Nedd42



Spinocerebellar ataxia, autosomal recessive 1 (12.40, 13.51)
606002
SETX (9q34.13)
Senataxin



Spinocerebellar ataxia, autosomal recessive 16 (13.59)
615768
STUB1 (16p13.3)
STIP1 homology and U-box containing protein 1



Spinocerebellar ataxia, autosomal recessive 3 (13.52)
271250
? - (6p23-p21)
Spinocerebellar ataxia, autosomal recessive 4 (13.53)
607317
? - (1p36)
Spinocerebellar ataxia, autosomal recessive 5 (13.54)
606937
? - (15q24-q26)
Spinocerebellar ataxia, autosomal recessive 6 (13.55)
? - (20q11-q13)
Spinocerebellar ataxia, autosomal recessive 7 (13.56)
609270
? - (11p15)
Spinocerebellar ataxia, autosomal recessive 8 (1.6, 13.57, 16.14, 10.67)
610743
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)



spinocerebellar ataxia, autosomal recessive 9 (13.58)
612016
ADCK3 (1q42.13)
Atypical kinaseADCK3, mitochondrial (M)



spinocerebellar ataxia, autosomal recessive, with axonal neuropathy (13.60)
607250
TDP1 (14q31-q32)
Tyrosyl-DNA phosphodiesterase 1



Spinocerebellar ataxia, infantile-onset, with sensory neuropathy (13.49, 16.18)
271245
C10orf2 (10q24.31)
chromosome 10 open reading frame 2 (M)



Spinocerebellar Ataxia, type 43 (14.58, 13.39)
617018
MME (3q25.2)
membrane metallo-endopeptidase



Steinert disease (6.1)
160900
DMPK (19q13.3)
Myotonic dystrophy protein kinase



Susceptibility to amyotrophic lateral sclerosis related to dynactin 1 (12.18, 12.61)
105400
DCTN1 (2p13)
Dynactin 1



Susceptibility to amyotrophic lateral sclerosis related to NEFH (12.59)
105400
NEFH (22q12.2)
Neurofilament, heavy polypeptide



Susceptibility to amyotrophic lateral sclerosis related to peripherin (12.60)
105400
PRPH (12q13.12)
Peripherin