| Symbol |
Name |
|
ADCY5
|
adenylate cyclase 5
|
|
AGRN
|
agrin
|
|
AK9
|
adenylate kinase 9
|
|
AMPD2
|
adenosine monophosphate deaminase 2
|
|
ANTXR2
|
anthrax toxin receptor 2
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATP6V1A
|
ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
|
|
BIN1
|
bridging integrator 1
|
|
BRSK2
|
BR serine/threonine kinase 2
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CAMK2A
|
calcium/calmodulin-dependent protein kinase II alpha
|
|
CAMK2B
|
calcium/calmodulin-dependent protein kinase II beta
|
|
CENPT
|
centromere protein T
|
|
CFL2
|
cofilin 2 (muscle)
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRNB1
|
cholinergic receptor, nicotinic, beta 1 (muscle)
|
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
|
CHRNE
|
cholinergic receptor, nicotinic, epsilon (muscle)
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLP1
|
cleavage and polyadenylation factor I subunit 1
|
|
CLPB
|
ClpB homolog, mitochondrial AAA ATPase chaperonin
|
|
CNTNAP2
|
contactin associated protein-like 2
|
|
COG4
|
component of oligomeric golgi complex 4
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COL13A1
|
collagen, type XIII, alpha 1
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
DLAT
|
dihydrolipoamide S-acetyltransferase
|
|
DNAJC19
|
DnaJ (Hsp40) homolog, subfamily C, member 19
|
|
DNM2
|
dynamin 2
|
|
DOK7
|
docking protein 7
|
|
DSE
|
dermatan sulfate epimerase
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
DYRK1A
|
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
|
|
EP300
|
E1A binding protein p300
|
|
EPT1
|
ethanolaminephosphotransferase 1
|
|
ERLIN2
|
ER lipid raft associated 2
|
|
ETHE1
|
ethylmalonic encephalopathy 1
|
|
F11
|
coagulation factor XI
|
|
FGF3
|
fibroblast growth factor 3
|
|
FKRP
|
fukutin related protein
|
|
FLRT1
|
fibronectin leucine rich transmembrane protein 1
|
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
|
FOXP1
|
forkhead box P1
|
|
FTSJ1
|
FtsJ RNA methyltransferase homolog 1 (E. coli)
|
|
GALE
|
UDP-galactose-4-epimerase
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GLS
|
glutaminase
|
|
GRIA3
|
glutamate receptor, ionotropic, AMPA 3
|
|
HARS1
|
histidyl-tRNA synthetase 1
|
|
HOXA1
|
homeobox A1
|
|
HUWE1
|
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
|
|
IRF2BPL
|
interferon regulatory factor 2 binding protein-like
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
KIAA0226
|
KIAA0226
|
|
KIDINS220
|
kinase D-interacting substrate, 220kDa
|
|
KIF14
|
kinesin family member 14
|
|
KLC2
|
kinesin light chain 2
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
KY
|
kyphoscoliosis peptidase
|
|
LRP4
|
low density lipoprotein receptor-related protein 4
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LZTR1
|
leucine-zipper-like transcription regulator 1
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MECR
|
mitochondrial trans-2-enoyl-CoA reductase
|
|
MFN2
|
mitofusin 2
|
|
MTMR14
|
myotubularin related protein 14
|
|
MTOR
|
mechanistic target of rapamycin (serine/threonine kinase)
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
MYF6
|
myogenic factor 6 (herculin)
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NONO
|
non-POU domain containing, octamer-binding
|
|
NPC2
|
Niemann-Pick disease, type C2
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
OPHN1
|
oligophrenin 1
|
|
OTUD6B
|
OTU domain containing 6B
|
|
PAK3
|
p21 protein (Cdc42/Rac)-activated kinase 3
|
|
PHKA2
|
phosphorylase kinase, alpha 2 (liver)
|
|
PHKG2
|
phosphorylase kinase, gamma 2 (testis)
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PLEC
|
plectin
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PPP2R1A
|
protein phosphatase 2, regulatory subunit A, alpha
|
|
PTCRA
|
pre T-cell antigen receptor alpha
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PURA
|
purine-rich element binding protein A
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SCN2A
|
sodium channel, voltage gated, type II alpha subunit
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SELENON
|
selenoprotein N
|
|
SETD5
|
SET domain containing 5
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
STIM1
|
stromal interaction molecule 1
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
SYNE1
|
spectrin repeat containing, nuclear envelope 1
|
|
TAF1
|
TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
|
|
THAP11
|
THAP domain containing 11
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TNNT1
|
troponin T type 1 (skeletal, slow)
|
|
TPO
|
thyroid peroxidase
|
|
TRIP11
|
thyroid hormone receptor interactor 11
|
|
TRMU
|
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
|
|
TTN
|
titin
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
USP7
|
ubiquitin specific peptidase 7 (herpes virus-associated)
|
|
WDR45
|
WD repeat domain 45
|
