| Symbol |
Name |
|
AARS
|
alanyl-tRNA synthetase
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ADCY5
|
adenylate cyclase 5
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
ALX3
|
ALX homeobox 3
|
|
ANO5
|
anoctamin 5
|
|
AP5Z1
|
adaptor-related protein complex 5, zeta 1 subunit
|
|
AR
|
androgen receptor
|
|
ATL1
|
atlastin GTPase 1
|
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
BICD2
|
bicaudal D homolog 2 (Drosophila)
|
|
BIN1
|
bridging integrator 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
CAPN3
|
calpain 3, (p94)
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CAV3
|
caveolin 3
|
|
CD59
|
CD59 molecule, complement regulatory protein
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
COLQ
|
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
|
|
CRYAB
|
crystallin, alpha B
|
|
CUL7
|
cullin 7
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DAG1
|
dystroglycan 1 (dystrophin-associated glycoprotein 1)
|
|
DCTN1
|
dynactin 1
|
|
DDC
|
dopa decarboxylase (aromatic L-amino acid decarboxylase)
|
|
DDHD1
|
DDHD domain containing 1
|
|
DDHD2
|
DDHD domain containing 2
|
|
DES
|
desmin
|
|
DMD
|
dystrophin
|
|
DNA2
|
DNA replication helicase/nuclease 2
|
|
DNAJB2
|
DnaJ (Hsp40) homolog, subfamily B, member 2
|
|
DNAJB6
|
DnaJ (Hsp40) homolog, subfamily B, member 6
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
DYSF
|
dysferlin
|
|
EGR2
|
early growth response 2
|
|
ERLIN2
|
ER lipid raft associated 2
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
FAM126A
|
family with sequence similarity 126, member A
|
|
FBN2
|
fibrillin 2
|
|
FBXO38
|
F-box protein 38
|
|
FGD4
|
FYVE, RhoGEF and PH domain containing 4
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FHL1
|
four and a half LIM domains 1
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLNA
|
filamin A, alpha
|
|
FLNC
|
filamin C, gamma
|
|
GARS
|
glycyl-tRNA synthetase
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
HINT1
|
histidine triad nucleotide binding protein 1
|
|
HNRNPDL
|
heterogeneous nuclear ribonucleoprotein D-like
|
|
HOXA13
|
homeobox A13
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
HSPB3
|
heat shock 27kDa protein 3
|
|
HSPD1
|
heat shock 60kDa protein 1 (chaperonin)
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
INF2
|
inverted formin, FH2 and WH2 domain containing
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KARS
|
lysyl-tRNA synthetase
|
|
KBTBD13
|
kelch repeat and BTB (POZ) domain containing 13
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KIAA0196
|
KIAA0196
|
|
KIF1A
|
kinesin family member 1A
|
|
KIF1B
|
kinesin family member 1B
|
|
KIF5A
|
kinesin family member 5A
|
|
LBR
|
lamin B receptor
|
|
LMNA
|
lamin A/C
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
LRSAM1
|
leucine rich repeat and sterile alpha motif containing 1
|
|
LYST
|
lysosomal trafficking regulator
|
|
MATR3
|
matrin 3
|
|
MFN2
|
mitofusin 2
|
|
MPZ
|
myelin protein zero
|
|
MTAP
|
methylthioadenosine phosphorylase
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYOT
|
myotilin
|
|
NEB
|
nebulin
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NF1
|
neurofibromin 1
|
|
NIPA1
|
non imprinted in Prader-Willi/Angelman syndrome 1
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
PABPN1
|
poly(A) binding protein, nuclear 1
|
|
PAX1
|
paired box 1
|
|
PAX3
|
paired box 3
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PLOD3
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
|
|
PLP1
|
proteolipid protein 1
|
|
PMP22
|
peripheral myelin protein 22
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLG2
|
polymerase (DNA directed), gamma 2, accessory subunit
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
PRNP
|
prion protein
|
|
PRX
|
periaxin
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RAB7A
|
RAB7A, member RAS oncogene family
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
REEP1
|
receptor accessory protein 1
|
|
RPL11
|
ribosomal protein L11
|
|
RTN2
|
reticulon 2
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SBF2
|
SET binding factor 2
|
|
SGCA
|
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
|
|
SGCB
|
sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
|
|
SGCD
|
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
|
|
SGCG
|
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
|
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC25A19
|
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
|
|
SLC39A13
|
solute carrier family 39 (zinc transporter), member 13
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SMCHD1
|
structural maintenance of chromosomes flexible hinge domain containing 1
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SPAST
|
spastin
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG20
|
spastic paraplegia 20 (Troyer syndrome)
|
|
SPG21
|
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
STIM1
|
stromal interaction molecule 1
|
|
TARS2
|
threonyl-tRNA synthetase 2, mitochondrial (putative)
|
|
TBX3
|
T-box 3
|
|
TBX5
|
T-box 5
|
|
TCAP
|
titin-cap
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TNPO3
|
transportin 3
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TPM3
|
tropomyosin 3
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TTN
|
titin
|
|
VAMP1
|
vesicle-associated membrane protein 1 (synaptobrevin 1)
|
|
VCP
|
valosin containing protein
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
YARS
|
tyrosyl-tRNA synthetase
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
|
ZFYVE27
|
zinc finger, FYVE domain containing 27
|
