| Symbol |
Name |
|
AARS2
|
alanyl-tRNA synthetase 2, mitochondrial
|
|
ABAT
|
4-aminobutyrate aminotransferase
|
|
ABCB11
|
ATP-binding cassette, sub-family B (MDR/TAP), member 11
|
|
ABCD3
|
ATP-binding cassette, sub-family D (ALD), member 3
|
|
AIMP1
|
aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
|
|
ALG1
|
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
AMT
|
aminomethyltransferase
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
BOLA3
|
bolA family member 3
|
|
CACNA1C
|
calcium channel, voltage-dependent, L type, alpha 1C subunit
|
|
CALM1
|
calmodulin 1 (phosphorylase kinase, delta)
|
|
CASQ2
|
calsequestrin 2 (cardiac muscle)
|
|
CAV3
|
caveolin 3
|
|
CNTN1
|
contactin 1
|
|
COG6
|
component of oligomeric golgi complex 6
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
CRTAP
|
cartilage associated protein
|
|
DCX
|
doublecortin
|
|
DLL3
|
delta-like 3 (Drosophila)
|
|
DNM1L
|
dynamin 1-like
|
|
DNM2
|
dynamin 2
|
|
DOK7
|
docking protein 7
|
|
DOLK
|
dolichol kinase
|
|
DPM2
|
dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
|
|
DSP
|
desmoplakin
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
ETFA
|
electron-transfer-flavoprotein, alpha polypeptide
|
|
ETFB
|
electron-transfer-flavoprotein, beta polypeptide
|
|
ETFDH
|
electron-transferring-flavoprotein dehydrogenase
|
|
FAM20C
|
family with sequence similarity 20, member C
|
|
FARS2
|
phenylalanyl-tRNA synthetase 2, mitochondrial
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FKRP
|
fukutin related protein
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
FOXF1
|
forkhead box F1
|
|
GCSH
|
glycine cleavage system protein H (aminomethyl carrier)
|
|
GDF5
|
growth differentiation factor 5
|
|
GLB1
|
galactosidase, beta 1
|
|
GLDC
|
glycine dehydrogenase (decarboxylating)
|
|
GLE1
|
GLE1 RNA export mediator
|
|
GLI3
|
GLI family zinc finger 3
|
|
GLUL
|
glutamate-ammonia ligase
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
HADHA
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
|
|
HBZ
|
hemoglobin, zeta
|
|
HMGCL
|
3-hydroxymethyl-3-methylglutaryl-CoA lyase
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
ITGA6
|
integrin, alpha 6
|
|
ITGB4
|
integrin, beta 4
|
|
JUP
|
junction plakoglobin
|
|
LAMA3
|
laminin, alpha 3
|
|
LAMB3
|
laminin, beta 3
|
|
LAMC2
|
laminin, gamma 2
|
|
LBR
|
lamin B receptor
|
|
LIPA
|
lipase A, lysosomal acid, cholesterol esterase
|
|
LMNA
|
lamin A/C
|
|
LTC4S
|
leukotriene C4 synthase
|
|
MRPS22
|
mitochondrial ribosomal protein S22
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYLK2
|
myosin light chain kinase 2
|
|
MYO5B
|
myosin VB
|
|
NEK8
|
NIMA-related kinase 8
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
OGDH
|
oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
|
|
OSTM1
|
osteopetrosis associated transmembrane protein 1
|
|
PEX16
|
peroxisomal biogenesis factor 16
|
|
PEX26
|
peroxisomal biogenesis factor 26
|
|
PEX3
|
peroxisomal biogenesis factor 3
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PEX6
|
peroxisomal biogenesis factor 6
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PIP5K1C
|
phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PSAP
|
prosaposin
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
RAB27A
|
RAB27A, member RAS oncogene family
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RARS2
|
arginyl-tRNA synthetase 2, mitochondrial
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RMND1
|
required for meiotic nuclear division 1 homolog (S. cerevisiae)
|
|
RNASEH2A
|
ribonuclease H2, subunit A
|
|
RNASEH2C
|
ribonuclease H2, subunit C
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
RYR2
|
ryanodine receptor 2 (cardiac)
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SCO2
|
SCO2 cytochrome c oxidase assembly protein
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC25A22
|
solute carrier family 25 (mitochondrial carrier: glutamate), member 22
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC35D1
|
solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
|
|
SOST
|
sclerostin
|
|
STT3B
|
STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
|
|
SUOX
|
sulfite oxidase
|
|
TNNT2
|
troponin T type 2 (cardiac)
|
|
TRIP11
|
thyroid hormone receptor interactor 11
|
|
TSEN54
|
TSEN54 tRNA splicing endonuclease subunit
|
|
TSFM
|
Ts translation elongation factor, mitochondrial
|
|
TTN
|
titin
|
|
TUFM
|
Tu translation elongation factor, mitochondrial
|
|
TYMP
|
thymidine phosphorylase
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
VPS33B
|
vacuolar protein sorting 33 homolog B (yeast)
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
