| Symbol |
Name |
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
|
ADK
|
adenosine kinase
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
ALDH18A1
|
aldehyde dehydrogenase 18 family, member A1
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
ALX4
|
ALX homeobox 4
|
|
AMACR
|
alpha-methylacyl-CoA racemase
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ANTXR1
|
anthrax toxin receptor 1
|
|
ARX
|
aristaless related homeobox
|
|
ATIC
|
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
|
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B3GAT3
|
beta-1,3-glucuronyltransferase 3
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BRWD3
|
bromodomain and WD repeat domain containing 3
|
|
BUB1
|
BUB1 mitotic checkpoint serine/threonine kinase
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
BUB3
|
BUB3 mitotic checkpoint protein
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
CAMKMT
|
calmodulin-lysine N-methyltransferase
|
|
CCDC22
|
coiled-coil domain containing 22
|
|
CCDC8
|
coiled-coil domain containing 8
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CHRNA7
|
cholinergic receptor, nicotinic, alpha 7 (neuronal)
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
COL10A1
|
collagen, type X, alpha 1
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
CREBBP
|
CREB binding protein
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CTSK
|
cathepsin K
|
|
CUL7
|
cullin 7
|
|
CYP27B1
|
cytochrome P450, family 27, subfamily B, polypeptide 1
|
|
CYP2R1
|
cytochrome P450, family 2, subfamily R, polypeptide 1
|
|
D2HGDH
|
D-2-hydroxyglutarate dehydrogenase
|
|
DDR2
|
discoidin domain receptor tyrosine kinase 2
|
|
DDX59
|
DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
|
|
DHCR24
|
24-dehydrocholesterol reductase
|
|
DLX3
|
distal-less homeobox 3
|
|
DSE
|
dermatan sulfate epimerase
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
EDA
|
ectodysplasin A
|
|
EDA2R
|
ectodysplasin A2 receptor
|
|
EDAR
|
ectodysplasin A receptor
|
|
EDARADD
|
EDAR-associated death domain
|
|
EFNB1
|
ephrin-B1
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERF
|
Ets2 repressor factor
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCB
|
Fanconi anemia, complementation group B
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FANCF
|
Fanconi anemia, complementation group F
|
|
FANCG
|
Fanconi anemia, complementation group G
|
|
FANCI
|
Fanconi anemia, complementation group I
|
|
FANCL
|
Fanconi anemia, complementation group L
|
|
FANCM
|
Fanconi anemia, complementation group M
|
|
FBN1
|
fibrillin 1
|
|
FBN2
|
fibrillin 2
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FH
|
fumarate hydratase
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
FMR1
|
fragile X mental retardation 1
|
|
FNBP4
|
formin binding protein 4
|
|
FOXC1
|
forkhead box C1
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GCDH
|
glutaryl-CoA dehydrogenase
|
|
GK
|
glycerol kinase
|
|
GLB1
|
galactosidase, beta 1
|
|
GLI3
|
GLI family zinc finger 3
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
GPC6
|
glypican 6
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC6
|
histone deacetylase 6
|
|
HMGA2
|
high mobility group AT-hook 2
|
|
HOXD13
|
homeobox D13
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFT122
|
intraflagellar transport 122
|
|
IFT43
|
intraflagellar transport 43
|
|
IFT80
|
intraflagellar transport 80
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
INPPL1
|
inositol polyphosphate phosphatase-like 1
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
ITCH
|
itchy E3 ubiquitin protein ligase
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNJ1
|
potassium channel, inwardly rectifying subfamily J, member 1
|
|
KIAA0196
|
KIAA0196
|
|
KIF22
|
kinesin family member 22
|
|
KIF7
|
kinesin family member 7
|
|
KPTN
|
kaptin (actin binding protein)
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LBR
|
lamin B receptor
|
|
LEMD3
|
LEM domain containing 3
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LRP4
|
low density lipoprotein receptor-related protein 4
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MED12
|
mediator complex subunit 12
|
|
MEGF8
|
multiple EGF-like-domains 8
|
|
MID1
|
midline 1
|
|
MMP14
|
matrix metallopeptidase 14 (membrane-inserted)
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MOCS1
|
molybdenum cofactor synthesis 1
|
|
MOCS2
|
molybdenum cofactor synthesis 2
|
|
MPST
|
mercaptopyruvate sulfurtransferase
|
|
MSX2
|
msh homeobox 2
|
|
NELFA
|
negative elongation factor complex member A
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NFKBIA
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
|
|
NPR2
|
natriuretic peptide receptor 2
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
OBSL1
|
obscurin-like 1
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OPHN1
|
oligophrenin 1
|
|
ORC1
|
origin recognition complex, subunit 1
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PDHA1
|
pyruvate dehydrogenase (lipoamide) alpha 1
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PHEX
|
phosphate regulating endopeptidase homolog, X-linked
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PIK3R2
|
phosphoinositide-3-kinase, regulatory subunit 2 (beta)
|
|
PITX2
|
paired-like homeodomain 2
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
POLR1C
|
polymerase (RNA) I polypeptide C, 30kDa
|
|
POLR1D
|
polymerase (RNA) I polypeptide D, 16kDa
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
POU1F1
|
POU class 1 homeobox 1
|
|
PPM1B
|
protein phosphatase, Mg2+/Mn2+ dependent, 1B
|
|
PRDM16
|
PR domain containing 16
|
|
PREPL
|
prolyl endopeptidase-like
|
|
PTCH1
|
patched 1
|
|
PTCH2
|
patched 2
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PTHLH
|
parathyroid hormone-like hormone
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
RAD51C
|
RAD51 paralog C
|
|
RAI1
|
retinoic acid induced 1
|
|
RECQL4
|
RecQ protein-like 4
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RUNX2
|
runt-related transcription factor 2
|
|
SATB2
|
SATB homeobox 2
|
|
SEC23A
|
Sec23 homolog A (S. cerevisiae)
|
|
SETBP1
|
SET binding protein 1
|
|
SKI
|
SKI proto-oncogene
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC34A3
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
|
|
SLC3A1
|
solute carrier family 3 (amino acid transporter heavy chain), member 1
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
SNX10
|
sorting nexin 10
|
|
SOST
|
sclerostin
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
STAT3
|
signal transducer and activator of transcription 3 (acute-phase response factor)
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
TBCE
|
tubulin folding cofactor E
|
|
TBX2
|
T-box 2
|
|
TBX4
|
T-box 4
|
|
TCF12
|
transcription factor 12
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TMEM216
|
transmembrane protein 216
|
|
TRAF6
|
TNF receptor-associated factor 6, E3 ubiquitin protein ligase
|
|
TRIM37
|
tripartite motif containing 37
|
|
TRIP11
|
thyroid hormone receptor interactor 11
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TTC37
|
tetratricopeptide repeat domain 37
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
UPF3B
|
UPF3 regulator of nonsense transcripts homolog B (yeast)
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
WDR19
|
WD repeat domain 19
|
|
WDR34
|
WD repeat domain 34
|
|
WDR35
|
WD repeat domain 35
|
|
WDR60
|
WD repeat domain 60
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
YWHAE
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
|
