| Symbol |
Name |
|
A2ML1
|
alpha-2-macroglobulin-like 1
|
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ACAN
|
aggrecan
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ACTB
|
actin, beta
|
|
ACTG1
|
actin gamma 1
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALDOA
|
aldolase A, fructose-bisphosphate
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ANO3
|
anoctamin 3
|
|
ANTXR2
|
anthrax toxin receptor 2
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ATN1
|
atrophin 1
|
|
ATP13A2
|
ATPase type 13A2
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B3GAT3
|
beta-1,3-glucuronyltransferase 3
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BBIP1
|
BBSome interacting protein 1
|
|
BBS1
|
Bardet-Biedl syndrome 1
|
|
BBS10
|
Bardet-Biedl syndrome 10
|
|
BBS12
|
Bardet-Biedl syndrome 12
|
|
BBS2
|
Bardet-Biedl syndrome 2
|
|
BBS4
|
Bardet-Biedl syndrome 4
|
|
BBS5
|
Bardet-Biedl syndrome 5
|
|
BBS7
|
Bardet-Biedl syndrome 7
|
|
BBS9
|
Bardet-Biedl syndrome 9
|
|
BCOR
|
BCL6 corepressor
|
|
BMPER
|
BMP binding endothelial regulator
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CAV3
|
caveolin 3
|
|
CBL
|
Cbl proto-oncogene, E3 ubiquitin protein ligase
|
|
CCDC22
|
coiled-coil domain containing 22
|
|
CCDC8
|
coiled-coil domain containing 8
|
|
CD96
|
CD96 molecule
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CFL2
|
cofilin 2 (muscle)
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHL1
|
cell adhesion molecule L1-like
|
|
CHN1
|
chimerin 1
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
CNBP
|
CCHC-type zinc finger, nucleic acid binding protein
|
|
CNTN4
|
contactin 4
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL11A2
|
collagen, type XI, 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
|
|
COLEC11
|
collectin sub-family member 11
|
|
COMT
|
catechol-O-methyltransferase
|
|
CP
|
ceruloplasmin (ferroxidase)
|
|
CRBN
|
cereblon
|
|
CREBBP
|
CREB binding protein
|
|
CRLF1
|
cytokine receptor-like factor 1
|
|
CRYAB
|
crystallin, alpha B
|
|
CTNND2
|
catenin (cadherin-associated protein), delta 2
|
|
CUL7
|
cullin 7
|
|
DDR2
|
discoidin domain receptor tyrosine kinase 2
|
|
DES
|
desmin
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DLL3
|
delta-like 3 (Drosophila)
|
|
DOK7
|
docking protein 7
|
|
DRD2
|
dopamine receptor D2
|
|
DYM
|
dymeclin
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
ECEL1
|
endothelin converting enzyme-like 1
|
|
EFNB1
|
ephrin-B1
|
|
ELN
|
elastin
|
|
EMD
|
emerin
|
|
EPHX1
|
epoxide hydrolase 1, microsomal (xenobiotic)
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC5
|
excision repair cross-complementation group 5
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
FAM20C
|
family with sequence similarity 20, member C
|
|
FBN2
|
fibrillin 2
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FHL1
|
four and a half LIM domains 1
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
FOXC2
|
forkhead box C2
|
|
FTO
|
fat mass and obesity associated
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GATA2
|
GATA binding protein 2
|
|
GATA4
|
GATA binding protein 4
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GDF3
|
growth differentiation factor 3
|
|
GDF6
|
growth differentiation factor 6
|
|
GFPT1
|
glutamine--fructose-6-phosphate transaminase 1
|
|
GLB1
|
galactosidase, beta 1
|
|
GLE1
|
GLE1 RNA export mediator
|
|
GNAL
|
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type
|
|
GNAS
|
GNAS complex locus
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GNPTG
|
N-acetylglucosamine-1-phosphate transferase, gamma subunit
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GPC6
|
glypican 6
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
GUSB
|
glucuronidase, beta
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC8
|
histone deacetylase 8
|
|
HES7
|
hes family bHLH transcription factor 7
|
|
HIRA
|
histone cell cycle regulator
|
|
HNF1B
|
HNF1 homeobox B
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
IDS
|
iduronate 2-sulfatase
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFT27
|
intraflagellar transport 27
|
|
IGBP1
|
immunoglobulin (CD79A) binding protein 1
|
|
INPPL1
|
inositol polyphosphate phosphatase-like 1
|
|
INSR
|
insulin receptor
|
|
IRX5
|
iroquois homeobox 5
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KBTBD13
|
kelch repeat and BTB (POZ) domain containing 13
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNJ8
|
potassium channel, inwardly rectifying subfamily J, member 8
|
|
KIAA0196
|
KIAA0196
|
|
KIF1BP
|
KIF1 binding protein
|
|
KIF22
|
kinesin family member 22
|
|
KIF7
|
kinesin family member 7
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LBR
|
lamin B receptor
|
|
LFNG
|
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
|
|
LHX1
|
LIM homeobox 1
|
|
LHX3
|
LIM homeobox 3
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMNA
|
lamin A/C
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MAPT
|
microtubule-associated protein tau
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MEGF8
|
multiple EGF-like-domains 8
|
|
MEOX1
|
mesenchyme homeobox 1
|
|
MESP2
|
mesoderm posterior basic helix-loop-helix transcription factor 2
|
|
MGAT2
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MPL
|
MPL proto-oncogene, thrombopoietin receptor
|
|
MRPS16
|
mitochondrial ribosomal protein S16
|
|
MRPS22
|
mitochondrial ribosomal protein S22
|
|
MTM1
|
myotubularin 1
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYOT
|
myotilin
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NBAS
|
neuroblastoma amplified sequence
|
|
NBN
|
nibrin
|
|
NEB
|
nebulin
|
|
NF1
|
neurofibromin 1
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NLRP1
|
NLR family, pyrin domain containing 1
|
|
NOG
|
noggin
|
|
NOTCH2
|
notch 2
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
OBSL1
|
obscurin-like 1
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PABPN1
|
poly(A) binding protein, nuclear 1
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PEPD
|
peptidase D
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX10
|
peroxisomal biogenesis factor 10
|
|
PEX11B
|
peroxisomal biogenesis factor 11 beta
|
|
PEX12
|
peroxisomal biogenesis factor 12
|
|
PEX13
|
peroxisomal biogenesis factor 13
|
|
PEX14
|
peroxisomal biogenesis factor 14
|
|
PEX16
|
peroxisomal biogenesis factor 16
|
|
PEX19
|
peroxisomal biogenesis factor 19
|
|
PEX2
|
peroxisomal biogenesis factor 2
|
|
PEX26
|
peroxisomal biogenesis factor 26
|
|
PEX3
|
peroxisomal biogenesis factor 3
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PEX6
|
peroxisomal biogenesis factor 6
|
|
PHF8
|
PHD finger protein 8
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PNKD
|
paroxysmal nonkinesigenic dyskinesia
|
|
PNPLA2
|
patatin-like phospholipase domain containing 2
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PPP1R3A
|
protein phosphatase 1, regulatory subunit 3A
|
|
PRDM16
|
PR domain containing 16
|
|
PRKRA
|
protein kinase, interferon-inducible double stranded RNA dependent activator
|
|
PTCH1
|
patched 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PUF60
|
poly-U binding splicing factor 60KDa
|
|
RAB23
|
RAB23, member RAS oncogene family
|
|
RAB33B
|
RAB33B, member RAS oncogene family
|
|
RAB3GAP1
|
RAB3 GTPase activating protein subunit 1 (catalytic)
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RB1
|
retinoblastoma 1
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RIT1
|
Ras-like without CAAX 1
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
ROBO3
|
roundabout, axon guidance receptor, homolog 3 (Drosophila)
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPS19
|
ribosomal protein S19
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SCP2
|
sterol carrier protein 2
|
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SEMA5A
|
sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
|
|
SEPN1
|
selenoprotein N, 1
|
|
SETBP1
|
SET binding protein 1
|
|
SGCE
|
sarcoglycan, epsilon
|
|
SHOC2
|
soc-2 suppressor of clear homolog (C. elegans)
|
|
SIX1
|
SIX homeobox 1
|
|
SKI
|
SKI proto-oncogene
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC35D1
|
solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SMS
|
spermine synthase
|
|
SOS1
|
son of sevenless homolog 1 (Drosophila)
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SPRED1
|
sprouty-related, EVH1 domain containing 1
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
SYNE1
|
spectrin repeat containing, nuclear envelope 1
|
|
SYNGAP1
|
synaptic Ras GTPase activating protein 1
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TBX6
|
T-box 6
|
|
TCF4
|
transcription factor 4
|
|
TCTN2
|
tectonic family member 2
|
|
TECPR2
|
tectonin beta-propeller repeat containing 2
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TGM6
|
transglutaminase 6
|
|
THAP1
|
THAP domain containing, apoptosis associated protein 1
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TMEM43
|
transmembrane protein 43
|
|
TNNI2
|
troponin I type 2 (skeletal, fast)
|
|
TNNT3
|
troponin T type 3 (skeletal, fast)
|
|
TOR1A
|
torsin family 1, member A (torsin A)
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TPM3
|
tropomyosin 3
|
|
TRAPPC2
|
trafficking protein particle complex 2
|
|
TRAPPC9
|
trafficking protein particle complex 9
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRIP11
|
thyroid hormone receptor interactor 11
|
|
TRMT10A
|
tRNA methyltransferase 10 homolog A (S. cerevisiae)
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TTN
|
titin
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR35
|
WD repeat domain 35
|
|
WDR81
|
WD repeat domain 81
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
|
XYLT1
|
xylosyltransferase I
|
|
YWHAE
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
|
ZDHHC15
|
zinc finger, DHHC-type containing 15
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
