| Symbol |
Name |
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ALG11
|
ALG11, alpha-1,2-mannosyltransferase
|
|
AMPD1
|
adenosine monophosphate deaminase 1
|
|
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
|
|
ARX
|
aristaless related homeobox
|
|
ATP2B3
|
ATPase, Ca++ transporting, plasma membrane 3
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
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)
|
|
CHKB
|
choline kinase beta
|
|
CNTN1
|
contactin 1
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
DECR1
|
2,4-dienoyl CoA reductase 1, mitochondrial
|
|
DLAT
|
dihydrolipoamide S-acetyltransferase
|
|
DST
|
dystonin
|
|
EARS2
|
glutamyl-tRNA synthetase 2, mitochondrial
|
|
EGR2
|
early growth response 2
|
|
ERCC6L2
|
excision repair cross-complementation group 6-like 2
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FKRP
|
fukutin related protein
|
|
FLNA
|
filamin A, alpha
|
|
FOXG1
|
forkhead box G1
|
|
GLYCTK
|
glycerate kinase
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
ITGA7
|
integrin, alpha 7
|
|
LYRM4
|
LYR motif containing 4
|
|
MAGEL2
|
melanoma antigen family L2
|
|
MED12
|
mediator complex subunit 12
|
|
MEGF10
|
multiple EGF-like-domains 10
|
|
MPZ
|
myelin protein zero
|
|
MRPS16
|
mitochondrial ribosomal protein S16
|
|
NEB
|
nebulin
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
PDHX
|
pyruvate dehydrogenase complex, component X
|
|
PDSS2
|
prenyl (decaprenyl) diphosphate synthase, subunit 2
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX10
|
peroxisomal biogenesis factor 10
|
|
PEX12
|
peroxisomal biogenesis factor 12
|
|
PEX16
|
peroxisomal biogenesis factor 16
|
|
PEX2
|
peroxisomal biogenesis factor 2
|
|
PEX26
|
peroxisomal biogenesis factor 26
|
|
PEX3
|
peroxisomal biogenesis factor 3
|
|
PEX6
|
peroxisomal biogenesis factor 6
|
|
PGAP1
|
post-GPI attachment to proteins 1
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHAF1
|
succinate dehydrogenase complex assembly factor 1
|
|
SEPN1
|
selenoprotein N, 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
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TPM3
|
tropomyosin 3
|
|
TSFM
|
Ts translation elongation factor, mitochondrial
|
|
TUBA8
|
tubulin, alpha 8
|
|
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)
|
