| Symbol |
Name |
|
ABHD12
|
abhydrolase domain containing 12
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
AP4B1
|
adaptor-related protein complex 4, beta 1 subunit
|
|
AR
|
androgen receptor
|
|
ATP6AP2
|
ATPase, H+ transporting, lysosomal accessory protein 2
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
B4GALNT1
|
beta-1,4-N-acetyl-galactosaminyl transferase 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
CFL2
|
cofilin 2 (muscle)
|
|
CHKB
|
choline kinase beta
|
|
CLCN5
|
chloride channel, voltage-sensitive 5
|
|
CLN8
|
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
CRYAB
|
crystallin, alpha B
|
|
DARS2
|
aspartyl-tRNA synthetase 2, mitochondrial
|
|
DCTN1
|
dynactin 1
|
|
DDHD1
|
DDHD domain containing 1
|
|
DNA2
|
DNA replication helicase/nuclease 2
|
|
DNAJB2
|
DnaJ (Hsp40) homolog, subfamily B, member 2
|
|
DNAJB6
|
DnaJ (Hsp40) homolog, subfamily B, member 6
|
|
DNM2
|
dynamin 2
|
|
DPAGT1
|
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
DYSF
|
dysferlin
|
|
EEF2
|
eukaryotic translation elongation factor 2
|
|
EMD
|
emerin
|
|
ERLIN2
|
ER lipid raft associated 2
|
|
FBXO38
|
F-box protein 38
|
|
FBXO7
|
F-box protein 7
|
|
FGF14
|
fibroblast growth factor 14
|
|
FLNC
|
filamin C, gamma
|
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
|
FN1
|
fibronectin 1
|
|
FZD4
|
frizzled class receptor 4
|
|
GAN
|
gigaxonin
|
|
GARS
|
glycyl-tRNA synthetase
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GNB4
|
guanine nucleotide binding protein (G protein), beta polypeptide 4
|
|
GRM1
|
glutamate receptor, metabotropic 1
|
|
HEPACAM
|
hepatic and glial cell adhesion molecule
|
|
HNRNPDL
|
heterogeneous nuclear ribonucleoprotein D-like
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
HSPB3
|
heat shock 27kDa protein 3
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
KBTBD13
|
kelch repeat and BTB (POZ) domain containing 13
|
|
KCNC3
|
potassium channel, voltage gated Shaw related subfamily C, member 3
|
|
KCND3
|
potassium channel, voltage gated Shal related subfamily D, member 3
|
|
KIF1A
|
kinesin family member 1A
|
|
KIF1B
|
kinesin family member 1B
|
|
LMNA
|
lamin A/C
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
LRSAM1
|
leucine rich repeat and sterile alpha motif containing 1
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MFN2
|
mitofusin 2
|
|
MPZ
|
myelin protein zero
|
|
MTPAP
|
mitochondrial poly(A) polymerase
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYOT
|
myotilin
|
|
NOL3
|
nucleolar protein 3 (apoptosis repressor with CARD domain)
|
|
PANK2
|
pantothenate kinase 2
|
|
PARK7
|
parkinson protein 7
|
|
PDE8B
|
phosphodiesterase 8B
|
|
PDK3
|
pyruvate dehydrogenase kinase, isozyme 3
|
|
PDYN
|
prodynorphin
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PLP1
|
proteolipid protein 1
|
|
PMP22
|
peripheral myelin protein 22
|
|
PNPLA2
|
patatin-like phospholipase domain containing 2
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
PRKCG
|
protein kinase C, gamma
|
|
PRX
|
periaxin
|
|
REEP2
|
receptor accessory protein 2
|
|
RNASET2
|
ribonuclease T2
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SETX
|
senataxin
|
|
SIGMAR1
|
sigma non-opioid intracellular receptor 1
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
SLC34A2
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 2
|
|
SLC5A7
|
solute carrier family 5 (sodium/choline cotransporter), member 7
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SPTBN2
|
spectrin, beta, non-erythrocytic 2
|
|
STIM1
|
stromal interaction molecule 1
|
|
SYT14
|
synaptotagmin XIV
|
|
TEAD1
|
TEA domain family member 1 (SV40 transcriptional enhancer factor)
|
|
TFG
|
TRK-fused gene
|
|
TGM6
|
transglutaminase 6
|
|
TIA1
|
TIA1 cytotoxic granule-associated RNA binding protein
|
|
TMEM43
|
transmembrane protein 43
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TRIM32
|
tripartite motif containing 32
|
|
TTN
|
titin
|
|
WNK1
|
WNK lysine deficient protein kinase 1
|
