| Symbol |
Name |
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ACP5
|
acid phosphatase 5, tartrate resistant
|
|
ACTB
|
actin, beta
|
|
AGA
|
aspartylglucosaminidase
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
AIMP1
|
aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALDH3A2
|
aldehyde dehydrogenase 3 family, member A2
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCOR
|
BCL6 corepressor
|
|
BIN1
|
bridging integrator 1
|
|
BMP1
|
bone morphogenetic protein 1
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CBS
|
cystathionine-beta-synthase
|
|
CCDC22
|
coiled-coil domain containing 22
|
|
CCDC8
|
coiled-coil domain containing 8
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
CLCF1
|
cardiotrophin-like cytokine factor 1
|
|
CLIC2
|
chloride intracellular channel 2
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
COMP
|
cartilage oligomeric matrix protein
|
|
CRLF1
|
cytokine receptor-like factor 1
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
CTSK
|
cathepsin K
|
|
CUL4B
|
cullin 4B
|
|
CUL7
|
cullin 7
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DKK1
|
dickkopf WNT signaling pathway inhibitor 1
|
|
DLL3
|
delta-like 3 (Drosophila)
|
|
DNA2
|
DNA replication helicase/nuclease 2
|
|
DYM
|
dymeclin
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
EGR2
|
early growth response 2
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
ELN
|
elastin
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
ERLIN2
|
ER lipid raft associated 2
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FBN1
|
fibrillin 1
|
|
FBN2
|
fibrillin 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FHL1
|
four and a half LIM domains 1
|
|
FKBP10
|
FK506 binding protein 10, 65 kDa
|
|
FKBP14
|
FK506 binding protein 14, 22 kDa
|
|
FKRP
|
fukutin related protein
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
FOXG1
|
forkhead box G1
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GALNS
|
galactosamine (N-acetyl)-6-sulfatase
|
|
GBA
|
glucosidase, beta, acid
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GLB1
|
galactosidase, beta 1
|
|
GNAS
|
GNAS complex locus
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GNPTG
|
N-acetylglucosamine-1-phosphate transferase, gamma subunit
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
GUSB
|
glucuronidase, beta
|
|
HDAC8
|
histone deacetylase 8
|
|
HES7
|
hes family bHLH transcription factor 7
|
|
HGD
|
homogentisate 1,2-dioxygenase
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
HMGB3
|
high mobility group box 3
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IDS
|
iduronate 2-sulfatase
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KIAA0196
|
KIAA0196
|
|
KIF22
|
kinesin family member 22
|
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
LAMA2
|
laminin, alpha 2
|
|
LBR
|
lamin B receptor
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LFNG
|
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMNA
|
lamin A/C
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MAPT
|
microtubule-associated protein tau
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MEIS2
|
Meis homeobox 2
|
|
MESP2
|
mesoderm posterior basic helix-loop-helix transcription factor 2
|
|
MGAT2
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
|
|
MGME1
|
mitochondrial genome maintenance exonuclease 1
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MPZ
|
myelin protein zero
|
|
MVK
|
mevalonate kinase
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NELFA
|
negative elongation factor complex member A
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NOTCH2
|
notch 2
|
|
NPR2
|
natriuretic peptide receptor 2
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
OBSL1
|
obscurin-like 1
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
P3H1
|
prolyl 3-hydroxylase 1
|
|
PAPSS2
|
3'-phosphoadenosine 5'-phosphosulfate synthase 2
|
|
PDE11A
|
phosphodiesterase 11A
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PHF6
|
PHD finger protein 6
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3R2
|
phosphoinositide-3-kinase, regulatory subunit 2 (beta)
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
PLOD2
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
|
|
PMM2
|
phosphomannomutase 2
|
|
PMP22
|
peripheral myelin protein 22
|
|
POLD1
|
polymerase (DNA directed), delta 1, catalytic subunit
|
|
PPIB
|
peptidylprolyl isomerase B (cyclophilin B)
|
|
PRDM16
|
PR domain containing 16
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRX
|
periaxin
|
|
PTCH1
|
patched 1
|
|
PTCH2
|
patched 2
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PUS1
|
pseudouridylate synthase 1
|
|
RAB18
|
RAB18, member RAS oncogene family
|
|
RAB3GAP1
|
RAB3 GTPase activating protein subunit 1 (catalytic)
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RBM28
|
RNA binding motif protein 28
|
|
RECQL4
|
RecQ protein-like 4
|
|
RET
|
ret proto-oncogene
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
ROBO3
|
roundabout, axon guidance receptor, homolog 3 (Drosophila)
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RUNX2
|
runt-related transcription factor 2
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SBF2
|
SET binding factor 2
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SETD5
|
SET domain containing 5
|
|
SH3PXD2B
|
SH3 and PX domains 2B
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SKI
|
SKI proto-oncogene
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SMARCA4
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SMARCE1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
|
|
SMS
|
spermine synthase
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SPG20
|
spastic paraplegia 20 (Troyer syndrome)
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
STAC3
|
SH3 and cysteine rich domain 3
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TBL2
|
transducin (beta)-like 2
|
|
TCTN3
|
tectonic family member 3
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TMEM165
|
transmembrane protein 165
|
|
TOR1A
|
torsin family 1, member A (torsin A)
|
|
TPI1
|
triosephosphate isomerase 1
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TRAPPC2
|
trafficking protein particle complex 2
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TTI2
|
TELO2 interacting protein 2
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
|
UPF3B
|
UPF3 regulator of nonsense transcripts homolog B (yeast)
|
|
VIPAS39
|
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
VPS33B
|
vacuolar protein sorting 33 homolog B (yeast)
|
|
VPS37A
|
vacuolar protein sorting 37 homolog A (S. cerevisiae)
|
|
WDR81
|
WD repeat domain 81
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
WISP3
|
WNT1 inducible signaling pathway protein 3
|
|
WNT1
|
wingless-type MMTV integration site family, member 1
|
|
WNT3A
|
wingless-type MMTV integration site family, member 3A
|
|
YARS2
|
tyrosyl-tRNA synthetase 2, mitochondrial
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
