| Symbol |
Name |
|
A2ML1
|
alpha-2-macroglobulin-like 1
|
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
AGA
|
aspartylglucosaminidase
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALDH18A1
|
aldehyde dehydrogenase 18 family, member A1
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ARSB
|
arylsulfatase B
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
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
|
|
BMP1
|
bone morphogenetic protein 1
|
|
BMP2
|
bone morphogenetic protein 2
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
CBL
|
Cbl proto-oncogene, E3 ubiquitin protein ligase
|
|
CBS
|
cystathionine-beta-synthase
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CD96
|
CD96 molecule
|
|
CHRM3
|
cholinergic receptor, muscarinic 3
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
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
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL5A1
|
collagen, type V, alpha 1
|
|
COL5A2
|
collagen, type V, alpha 2
|
|
CREBBP
|
CREB binding protein
|
|
CRTAP
|
cartilage associated protein
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CUL7
|
cullin 7
|
|
CYP27B1
|
cytochrome P450, family 27, subfamily B, polypeptide 1
|
|
CYP2R1
|
cytochrome P450, family 2, subfamily R, polypeptide 1
|
|
DDR2
|
discoidin domain receptor tyrosine kinase 2
|
|
DHODH
|
dihydroorotate dehydrogenase (quinone)
|
|
DYM
|
dymeclin
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
EFEMP2
|
EGF containing fibulin-like extracellular matrix protein 2
|
|
EFNB1
|
ephrin-B1
|
|
ELN
|
elastin
|
|
EMD
|
emerin
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
FAM20C
|
family with sequence similarity 20, member C
|
|
FBLN5
|
fibulin 5
|
|
FBN1
|
fibrillin 1
|
|
FBN2
|
fibrillin 2
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FKTN
|
fukutin
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
FMR1
|
fragile X mental retardation 1
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
G6PC3
|
glucose 6 phosphatase, catalytic, 3
|
|
GALNS
|
galactosamine (N-acetyl)-6-sulfatase
|
|
GLB1
|
galactosidase, beta 1
|
|
GNPTG
|
N-acetylglucosamine-1-phosphate transferase, gamma subunit
|
|
GORAB
|
golgin, RAB6-interacting
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
GUSB
|
glucuronidase, beta
|
|
HACD1
|
3-hydroxyacyl-CoA dehydratase 1
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HDAC8
|
histone deacetylase 8
|
|
HOXD13
|
homeobox D13
|
|
HPGD
|
hydroxyprostaglandin dehydrogenase 15-(NAD)
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IFT122
|
intraflagellar transport 122
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT172
|
intraflagellar transport 172
|
|
IFT43
|
intraflagellar transport 43
|
|
IFT80
|
intraflagellar transport 80
|
|
IGBP1
|
immunoglobulin (CD79A) binding protein 1
|
|
IGF1R
|
insulin-like growth factor 1 receptor
|
|
IHH
|
indian hedgehog
|
|
IMPAD1
|
inositol monophosphatase domain containing 1
|
|
INPPL1
|
inositol polyphosphate phosphatase-like 1
|
|
IRX5
|
iroquois homeobox 5
|
|
ITGA7
|
integrin, alpha 7
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KIF7
|
kinesin family member 7
|
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LBR
|
lamin B receptor
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MEGF10
|
multiple EGF-like-domains 10
|
|
MEGF8
|
multiple EGF-like-domains 8
|
|
MGAT2
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
|
|
MYL2
|
myosin, light chain 2, regulatory, cardiac, slow
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NALCN
|
sodium leak channel, non selective
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NF1
|
neurofibromin 1
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NOG
|
noggin
|
|
NOTCH2
|
notch 2
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
ORC1
|
origin recognition complex, subunit 1
|
|
ORC6
|
origin recognition complex, subunit 6
|
|
PDHX
|
pyruvate dehydrogenase complex, component X
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIGT
|
phosphatidylinositol glycan anchor biosynthesis, class T
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PLOD2
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
|
|
PPIB
|
peptidylprolyl isomerase B (cyclophilin B)
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PTCH1
|
patched 1
|
|
PTCH2
|
patched 2
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTF1A
|
pancreas specific transcription factor, 1a
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
RAB33B
|
RAB33B, member RAS oncogene family
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RBM10
|
RNA binding motif protein 10
|
|
RET
|
ret proto-oncogene
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RIN2
|
Ras and Rab interactor 2
|
|
RIT1
|
Ras-like without CAAX 1
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SCARF2
|
scavenger receptor class F, 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
|
|
SEPN1
|
selenoprotein N, 1
|
|
SETBP1
|
SET binding protein 1
|
|
SHOC2
|
soc-2 suppressor of clear homolog (C. elegans)
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SKI
|
SKI proto-oncogene
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC2A10
|
solute carrier family 2 (facilitated glucose transporter), member 10
|
|
SLC34A3
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SMAD3
|
SMAD family member 3
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SMS
|
spermine synthase
|
|
SOS1
|
son of sevenless homolog 1 (Drosophila)
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SP7
|
Sp7 transcription factor
|
|
SPRED1
|
sprouty-related, EVH1 domain containing 1
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX3
|
T-box 3
|
|
TBX5
|
T-box 5
|
|
TCTN3
|
tectonic family member 3
|
|
TGFB2
|
transforming growth factor, beta 2
|
|
TGFB3
|
transforming growth factor, beta 3
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
THRB
|
thyroid hormone receptor, beta
|
|
TNFRSF11B
|
tumor necrosis factor receptor superfamily, member 11b
|
|
TNNT1
|
troponin T type 1 (skeletal, slow)
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TPM3
|
tropomyosin 3
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TTC21B
|
tetratricopeptide repeat domain 21B
|
|
UPF3B
|
UPF3 regulator of nonsense transcripts homolog B (yeast)
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
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)
|
|
WDR19
|
WD repeat domain 19
|
|
WDR34
|
WD repeat domain 34
|
|
WDR35
|
WD repeat domain 35
|
|
WDR60
|
WD repeat domain 60
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
|
XYLT1
|
xylosyltransferase I
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZDHHC9
|
zinc finger, DHHC-type containing 9
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|