| Symbol |
Name |
|
ACAN
|
aggrecan
|
|
AGA
|
aspartylglucosaminidase
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
ANKH
|
ANKH inorganic pyrophosphate transport regulator
|
|
ANTXR1
|
anthrax toxin receptor 1
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
AP4M1
|
adaptor-related protein complex 4, mu 1 subunit
|
|
ATP10A
|
ATPase, class V, type 10A
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
CA2
|
carbonic anhydrase II
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CHRNB1
|
cholinergic receptor, nicotinic, beta 1 (muscle)
|
|
CHRNE
|
cholinergic receptor, nicotinic, epsilon (muscle)
|
|
CUL7
|
cullin 7
|
|
CYFIP1
|
cytoplasmic FMR1 interacting protein 1
|
|
DEAF1
|
DEAF1 transcription factor
|
|
DYM
|
dymeclin
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FAM20C
|
family with sequence similarity 20, member C
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOS
|
FBJ murine osteosarcoma viral oncogene homolog
|
|
FOXG1
|
forkhead box G1
|
|
GALNS
|
galactosamine (N-acetyl)-6-sulfatase
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GLB1
|
galactosidase, beta 1
|
|
GNAS
|
GNAS complex locus
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GORAB
|
golgin, RAB6-interacting
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
HDAC8
|
histone deacetylase 8
|
|
HERC2
|
HECT and RLD domain containing E3 ubiquitin protein ligase 2
|
|
HNF1B
|
HNF1 homeobox B
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IL1RAPL1
|
interleukin 1 receptor accessory protein-like 1
|
|
INSR
|
insulin receptor
|
|
KCTD1
|
potassium channel tetramerization domain containing 1
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KIF11
|
kinesin family member 11
|
|
KPTN
|
kaptin (actin binding protein)
|
|
LRP4
|
low density lipoprotein receptor-related protein 4
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
MYH8
|
myosin, heavy chain 8, skeletal muscle, perinatal
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NHS
|
Nance-Horan syndrome (congenital cataracts and dental anomalies)
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
OCA2
|
oculocutaneous albinism II
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OPHN1
|
oligophrenin 1
|
|
PAX3
|
paired box 3
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PIGV
|
phosphatidylinositol glycan anchor biosynthesis, class V
|
|
POC1A
|
POC1 centriolar protein A
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PTCH1
|
patched 1
|
|
PTCH2
|
patched 2
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RAI1
|
retinoic acid induced 1
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RECQL4
|
RecQ protein-like 4
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
SH3PXD2B
|
SH3 and PX domains 2B
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SMAD4
|
SMAD family member 4
|
|
SMS
|
spermine synthase
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SNX3
|
sorting nexin 3
|
|
SOST
|
sclerostin
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
TAZ
|
tafazzin
|
|
TBC1D7
|
TBC1 domain family, member 7
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TNNI2
|
troponin I type 2 (skeletal, fast)
|
|
TNNT3
|
troponin T type 3 (skeletal, fast)
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UPF3B
|
UPF3 regulator of nonsense transcripts homolog B (yeast)
|
