| Symbol |
Name |
|
ABAT
|
4-aminobutyrate aminotransferase
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
AHDC1
|
AT hook, DNA binding motif, containing 1
|
|
ALG1
|
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
|
|
ALG11
|
ALG11, alpha-1,2-mannosyltransferase
|
|
AP4B1
|
adaptor-related protein complex 4, beta 1 subunit
|
|
AP4E1
|
adaptor-related protein complex 4, epsilon 1 subunit
|
|
AP4M1
|
adaptor-related protein complex 4, mu 1 subunit
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARX
|
aristaless related homeobox
|
|
ATP2B3
|
ATPase, Ca++ transporting, plasma membrane 3
|
|
ATXN7
|
ataxin 7
|
|
BIN1
|
bridging integrator 1
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
CAMTA1
|
calmodulin binding transcription activator 1
|
|
CASK
|
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
|
|
CCDC174
|
coiled-coil domain containing 174
|
|
CCDC88A
|
coiled-coil domain containing 88A
|
|
CFL2
|
cofilin 2 (muscle)
|
|
CHKB
|
choline kinase beta
|
|
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)
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
CLCN4
|
chloride channel, voltage-sensitive 4
|
|
CLPB
|
ClpB homolog, mitochondrial AAA ATPase chaperonin
|
|
CNTN1
|
contactin 1
|
|
CNTNAP1
|
contactin associated protein 1
|
|
COL12A1
|
collagen, type XII, alpha 1
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
COQ4
|
coenzyme Q4
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
DLAT
|
dihydrolipoamide S-acetyltransferase
|
|
DNAJC19
|
DnaJ (Hsp40) homolog, subfamily C, member 19
|
|
DST
|
dystonin
|
|
EARS2
|
glutamyl-tRNA synthetase 2, mitochondrial
|
|
EBF3
|
early B-cell factor 3
|
|
EEF1A2
|
eukaryotic translation elongation factor 1 alpha 2
|
|
EGR2
|
early growth response 2
|
|
ERCC6L2
|
excision repair cross-complementation group 6-like 2
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLNA
|
filamin A, alpha
|
|
FOXG1
|
forkhead box G1
|
|
GATA6
|
GATA binding protein 6
|
|
GATAD2B
|
GATA zinc finger domain containing 2B
|
|
GLS
|
glutaminase
|
|
GLYCTK
|
glycerate kinase
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GRIA4
|
glutamate receptor, ionotropic, AMPA 4
|
|
HADH
|
hydroxyacyl-CoA dehydrogenase
|
|
HERC2
|
HECT and RLD domain containing E3 ubiquitin protein ligase 2
|
|
HIST1H1E
|
histone cluster 1, H1e
|
|
HNF1A
|
HNF1 homeobox A
|
|
HNF4A
|
hepatocyte nuclear factor 4, alpha
|
|
HNRNPK
|
heterogeneous nuclear ribonucleoprotein K
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
IER3IP1
|
immediate early response 3 interacting protein 1
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
IRAK1BP1
|
interleukin-1 receptor-associated kinase 1 binding protein 1
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
ITGA7
|
integrin, alpha 7
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KAT6A
|
K(lysine) acetyltransferase 6A
|
|
KCNK9
|
potassium channel, two pore domain subfamily K, member 9
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
KIAA2022
|
KIAA2022
|
|
KIF7
|
kinesin family member 7
|
|
KLHL41
|
kelch-like family member 41
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
LAMA2
|
laminin, alpha 2
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LMNA
|
lamin A/C
|
|
LMOD3
|
leiomodin 3 (fetal)
|
|
LYRM4
|
LYR motif containing 4
|
|
MAG
|
myelin associated glycoprotein
|
|
MAGEL2
|
melanoma antigen family L2
|
|
MAPK8IP3
|
mitogen-activated protein kinase 8 interacting protein 3
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MEGF10
|
multiple EGF-like-domains 10
|
|
MKRN3
|
makorin ring finger protein 3
|
|
MRPS16
|
mitochondrial ribosomal protein S16
|
|
MTM1
|
myotubularin 1
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
MYBPC1
|
myosin binding protein C, slow type
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
NADK2
|
NAD kinase 2, mitochondrial
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NEB
|
nebulin
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NKX6-2
|
NK6 homeobox 2
|
|
NONO
|
non-POU domain containing, octamer-binding
|
|
NPAP1
|
nuclear pore associated protein 1
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
PCLO
|
piccolo presynaptic cytomatrix protein
|
|
PDHX
|
pyruvate dehydrogenase complex, component X
|
|
PDSS2
|
prenyl (decaprenyl) diphosphate synthase, subunit 2
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX10
|
peroxisomal biogenesis factor 10
|
|
PEX16
|
peroxisomal biogenesis factor 16
|
|
PEX2
|
peroxisomal biogenesis factor 2
|
|
PEX26
|
peroxisomal biogenesis factor 26
|
|
PEX6
|
peroxisomal biogenesis factor 6
|
|
PGAP1
|
post-GPI attachment to proteins 1
|
|
PGAP2
|
post-GPI attachment to proteins 2
|
|
PHIP
|
pleckstrin homology domain interacting protein
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
POMK
|
protein-O-mannose kinase
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
PRDM5
|
PR domain containing 5
|
|
PREPL
|
prolyl endopeptidase-like
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PURA
|
purine-rich element binding protein A
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SCO2
|
SCO2 cytochrome c oxidase assembly protein
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHAF1
|
succinate dehydrogenase complex assembly factor 1
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SELENON
|
selenoprotein N
|
|
SFTPC
|
surfactant protein C
|
|
SH2B1
|
SH2B adaptor protein 1
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC25A22
|
solute carrier family 25 (mitochondrial carrier: glutamate), member 22
|
|
SLC3A1
|
solute carrier family 3 (amino acid transporter heavy chain), member 1
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
SYT1
|
synaptotagmin I
|
|
TAF6
|
TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa
|
|
TBR1
|
T-box, brain, 1
|
|
TGFB3
|
transforming growth factor, beta 3
|
|
TIMM50
|
translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TNNT1
|
troponin T type 1 (skeletal, slow)
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TPM3
|
tropomyosin 3
|
|
TRIP11
|
thyroid hormone receptor interactor 11
|
|
TSFM
|
Ts translation elongation factor, mitochondrial
|
|
TUBA8
|
tubulin, alpha 8
|
|
TUFM
|
Tu translation elongation factor, mitochondrial
|
|
UPB1
|
ureidopropionase, beta
|
|
UQCC2
|
ubiquinol-cytochrome c reductase complex assembly factor 2
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
VPS53
|
vacuolar protein sorting 53 homolog (S. cerevisiae)
|
|
ZNF469
|
zinc finger protein 469
|
