Disease table

A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z

Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Sarcotubular myopathy (1.26, 3.34)
TRIM32 (9q33.2)
Tripartite motif-containing 32

Scapuloperoneal myopathy (1.3, 5.18, 5.19, 2.15, 5.20)
FHL1 (Xq26.3)
four and a half LIM domain 1

Scapuloperoneal spinal muscular atrophy (12.19, 12.20, 14.38)
TRPV4 (12q23-q24)
transient receptor potential cation channel, subfamily V, member 4

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

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (16.16, 13.51)
POLG (15q25)
polymerase (DNA directed), gamma

Short qt syndrome 1 (10.88, 7.15, 10.96)
KCNH2 (7q35-q36)
voltage-gated potassium channel, subfamily H, member 2

Sick Sinus Syndrome 1, autosomal recessive (10.89, 7.7, 10.31, 10.111, 10.116)
SCN5A (3p21)
voltage-gated sodium channel type V alpha

Sick Sinus Syndrome 2, autosomal dominant (10.115)
HCN4 (15q24.1)
hyperpolarization activated cyclic nucleotide-gated potassium channel 4

Sjogren-Larsson syndrome (15.41)
ALDH3A2 (17p11.2)
aldehyde dehydrogenase 3A2

Slowed nerve conduction velocity, autosomal dominant (14.9)
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, Charlevoix-Saguenay type (15.46, 13.54)
SACS (13q12)
sacsin

Spastic paralysis, infantile onset ascending (12.23, 15.42)
ALS2 (2q33.2)
alsin

Spastic paraplegia 2 (15.44)
PLP1 (Xq22)
proteolipid protein 1

Spastic paraplegia 3A (15.1)
SPG3A (14q22.1)
atlastin

Spastic paraplegia 4 (15.2)
SPAST (2p24-p21)
spastin

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

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

Spastic paraplegia 7 (15.20)
SPG7 (16q24.3)
paraplegin

Spastic paraplegia 8 (15.4)
KIAA0196 (8q24.13)
strumpellin

Spastic paraplegia 9 (15.5)
? - (10q23.3-q24.1)
Spastic paraplegia 10 (15.6)
KIF5A (12q13.13)
kinesin family member 5A

Spastic paraplegia 11 (15.21)
SPG11 (15q14)
spatacsin

Spastic paraplegia 12 (15.7)
? - (19q13)
Spastic paraplegia 13 (15.8)
HSPD1 (2q33.1)
heat shock 60kDa protein 1 (chaperonin)

Spastic paraplegia 14 (15.22)
? - (3q27-q28)
Spastic paraplegia 15 (15.23)
ZFYVE26 (14q24.1)
spastizin

Spastic paraplegia 16 (15.45)
? - (Xq11.2)
Spastic paraplegia 17 (15.9, 12.15)
BSCL2 (11q12-q13.5)
seipin

Spastic paraplegia 18 (15.24)
? - (8p12-p11.21)
Spastic paraplegia 19 (15.10)
? - (9q33-q34)
Spastic paraplegia 20 (15.25)
SPG20 (13q12.3)
spartin

Spastic paraplegia 20 (15.26)
SPG21 (15q21-q22)
maspardin

Spastic paraplegia 20 (15.32)
? - (14q21-q22)
Spastic paraplegia 23 (15.27)
? - (1q24-q32)
Spastic paraplegia 24 (15.28)
? - (13q14)
Spastic paraplegia 25 (15.29)
? - (6q23.3-q24.1)
Spastic paraplegia 26 (15.30)
? - (12p11-q14)
Spastic paraplegia 27 (15.31)
? - (10q22-q24)
Spastic paraplegia 29 (15.11)
? - (1p31-p21)
Spastic paraplegia 30 (15.33, 14.57)
KIF1A (2q37.3)
kinesin family member 1A

Spastic paraplegia 31 (15.12)
REEP1 (2p11.2)
receptor accessory protein 1

spastic paraplegia 32, autosomal recessive (15.34)
? - (14q12-q21)
Spastic paraplegia 33 (15.13)
ZFYVE27 (10q24.2)
protrudin

Spastic paraplegia 35, autosomal recessive (15.35)
FA2H (16q21-q23.1)
fatty acid 2-hydroxylase

Spastic paraplegia 36, autosomal dominant (15.14)
? - (12q23-q24)
Spastic paraplegia 37, autosomal dominant (15.15)
? - (8p21.1-q13.3)
Spastic paraplegia 38, autosomal dominant (15.16)
? - (4p16-p15)
Spastic paraplegia 39, autosomal recessive (15.36)
PNPLA6 (19p13.3-p13.2)
patatin-like phospholipase domain containing 6

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

Spastic paraplegia 43, autosomal recessive (15.37)
? - (19p13.11-q12)
Spastic paraplegia 45, autosomal recessive (15.38)
? - (10q24.3-q25.1)
Spastic paraplegia 47, autosomal recessive (15.39)
? - (1p13.2-1p12)
Spastic paraplegia 48, autosomal recessive (15.40)
KIAA0415 (7p22.2)
hypothetical protein LOC9907 ?

Spheroid body myopathy (1.11, 5.6, 5.7, 4.9)
MYOT (5q31)
myotilin

Spinal and bulbar muscular atrophy of Kennedy (12.32)
AR (Xq11.2-q12)
androgen receptor

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

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

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

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

Spinal muscular atrophy congenital non progressive of lower limbs (12.19, 12.20, 14.38)
TRPV4 (12q23-q24)
transient receptor potential cation channel, subfamily V, member 4

Spinal muscular atrophy with respiratory distress (12.5)
IGHMBP2 (11q13.2-q13.4)
immunoglobulin mu binding protein 2

Spinal muscular atrophy, congenital benin, with contractures (12.19, 12.20, 14.38)
TRPV4 (12q23-q24)
transient receptor potential cation channel, subfamily V, member 4

spinal muscular atrophy, distal, autosomal recessive, 2 (12.6)
? - (9p21)
spinal muscular atrophy, distal, autosomal recessive, 3 (12.7)
? - (11q13)
spinal muscular atrophy, distal, autosomal recessive, 4 (12.8)
PLEKHG5 (1p36.31)
pleckstrin homology domain containing, family G (with RhoGef domain) member 5

Spinal muscular atrophy, distal, type V (14.39, 12.14)
GARS (7p15)
glycyl-tRNA synthetase

Spinal muscular atrophy, distal, x-linked 3 (12.18)
ATP7A (Xq13-q21)
ATPase, Cu++ transporting, alpha polypeptide

Spinocerebellar ataxia 1 (13.1)
ATXN1 (6p23)
ataxin 1

Spinocerebellar ataxia 2 (13.2)
ATXN2 (12q24.1)
ataxin 2

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

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

Spinocerebellar ataxia 6 (7.9, 13.6, 13.35, 7.10, 13.30)
CACNA1A (19p13.2-p13.1)
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit

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

Spinocerebellar ataxia 8 (13.8)
ATXN8OS (13q21)
ataxin 8 opposite strand

Spinocerebellar ataxia 10 (13.9)
ATXN10 (22q13.31)
ataxin 10

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

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

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

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

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

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

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

Spinocerebellar ataxia 19 (13.19)
? - (7p21-p15)
Spinocerebellar ataxia 19 (13.17)
? - (1p21-q21)
Spinocerebellar ataxia 20 (13.18)
? - (11p13)
Spinocerebellar ataxia 21 (13.20)
? - (1p21-q23)
Spinocerebellar ataxia 23 (13.21)
? - (20p13-p12-3)
Spinocerebellar ataxia 24 (13.22)
? - (1p36)
Spinocerebellar ataxia 25 (13.23)
? - ( 2p21-p13)
Spinocerebellar ataxia 26 (13.24)
? - (19p13.3)
Spinocerebellar ataxia 27 (13.25)
FGF14 (13q34)
fibroblast growth factor 14

Spinocerebellar ataxia 28 (13.26, 13.28)
BEAN (16q21)
Brain expressed, associated with Nedd42

spinocerebellar ataxia with epilepsy, included (16.16, 13.51)
POLG (15q25)
polymerase (DNA directed), gamma

Spinocerebellar ataxia, autosomal recessive 1 (12.25, 13.41)
SETX (9q34.13)
senataxin

Spinocerebellar ataxia, autosomal recessive 3 (13.42)
? - (6p23-p21)
Spinocerebellar ataxia, autosomal recessive 4 (13.43)
? - (1p36)
Spinocerebellar ataxia, autosomal recessive 5 (13.44)
? - (15q24-q26)
Spinocerebellar ataxia, autosomal recessive 6 (13.45)
? - (20q11-q13)
Spinocerebellar ataxia, autosomal recessive 7 (13.46)
? - (11p15)
Spinocerebellar ataxia, autosomal recessive 8 (1.6, 13.47, 16.14, 10.64)
SYNE1 (6q25)
spectrin repeat containing, nuclear envelope 1 (nesprin 1)

spinocerebellar ataxia, autosomal recessive 9 (13.48)
CABC1 (1q42.13)
chaperone, ABC1 activity of bc1 complex homolog (S. pombe)

spinocerebellar ataxia, autosomal recessive, with axonal neuropathy (13.49)
TDP1 (14q31-q32)
Tyrosyl-DNA phosphodiesterase 1

Spinocerebellar ataxia, infantile-onset, with sensory neuropathy (13.39, 16.18)
PEO1 (10q23.3-q24.3)
twinkle/twinky (mt DNA helicase)

spinocerebellar ataxia-31 (13.26, 13.28)
BEAN (16q21)
Brain expressed, associated with Nedd42

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