| Symbol |
Name |
|
ACAN
|
aggrecan
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
AGA
|
aspartylglucosaminidase
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ANOS1
|
anosmin 1
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BIN1
|
bridging integrator 1
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
CHAT
|
choline O-acetyltransferase
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRNB1
|
cholinergic receptor, nicotinic, beta 1 (muscle)
|
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
|
CHRNE
|
cholinergic receptor, nicotinic, epsilon (muscle)
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COLQ
|
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
|
|
COMT
|
catechol-O-methyltransferase
|
|
COQ9
|
coenzyme Q9
|
|
CRLF1
|
cytokine receptor-like factor 1
|
|
CRYAB
|
crystallin, alpha B
|
|
CTNND2
|
catenin (cadherin-associated protein), delta 2
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
DCTN1
|
dynactin 1
|
|
DUSP6
|
dual specificity phosphatase 6
|
|
ECM1
|
extracellular matrix protein 1
|
|
EDA
|
ectodysplasin A
|
|
EIF4A3
|
eukaryotic translation initiation factor 4A3
|
|
ELN
|
elastin
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FBN1
|
fibrillin 1
|
|
FEZF1
|
FEZ family zinc finger 1
|
|
FGF17
|
fibroblast growth factor 17
|
|
FGF8
|
fibroblast growth factor 8 (androgen-induced)
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FLNA
|
filamin A, alpha
|
|
FLRT3
|
fibronectin leucine rich transmembrane protein 3
|
|
FMR1
|
fragile X mental retardation 1
|
|
FTL
|
ferritin, light polypeptide
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GHR
|
growth hormone receptor
|
|
GMPPA
|
GDP-mannose pyrophosphorylase A
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GNAI3
|
guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
|
|
GNAL
|
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HDAC8
|
histone deacetylase 8
|
|
HESX1
|
HESX homeobox 1
|
|
HIRA
|
histone cell cycle regulator
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HS6ST1
|
heparan sulfate 6-O-sulfotransferase 1
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
HTT
|
huntingtin
|
|
IDS
|
iduronate 2-sulfatase
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
IL17RD
|
interleukin 17 receptor D
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KISS1R
|
KISS1 receptor
|
|
KRT17
|
keratin 17, type I
|
|
LAMA3
|
laminin, alpha 3
|
|
LARGE
|
like-glycosyltransferase
|
|
LEMD3
|
LEM domain containing 3
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMNA
|
lamin A/C
|
|
LMNB1
|
lamin B1
|
|
MATR3
|
matrin 3
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MEGF10
|
multiple EGF-like-domains 10
|
|
MGME1
|
mitochondrial genome maintenance exonuclease 1
|
|
MGP
|
matrix Gla protein
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
MYH14
|
myosin, heavy chain 14, non-muscle
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
MYOT
|
myotilin
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NOTCH2
|
notch 2
|
|
NOTCH3
|
notch 3
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NSMF
|
NMDA receptor synaptonuclear signaling and neuronal migration factor
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
ORC4
|
origin recognition complex, subunit 4
|
|
PANK2
|
pantothenate kinase 2
|
|
PAX8
|
paired box 8
|
|
PCNT
|
pericentrin
|
|
PLCB4
|
phospholipase C, beta 4
|
|
PMP22
|
peripheral myelin protein 22
|
|
POC1A
|
POC1 centriolar protein A
|
|
POLD1
|
polymerase (DNA directed), delta 1, catalytic subunit
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PREPL
|
prolyl endopeptidase-like
|
|
PRKRA
|
protein kinase, interferon-inducible double stranded RNA dependent activator
|
|
PROK2
|
prokineticin 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RAI1
|
retinoic acid induced 1
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RBBP8
|
retinoblastoma binding protein 8
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RIN2
|
Ras and Rab interactor 2
|
|
SATB2
|
SATB homeobox 2
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SDHAF2
|
succinate dehydrogenase complex assembly factor 2
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SEMA3A
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
|
|
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
|
|
SERPINH1
|
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
|
|
SH3BP2
|
SH3-domain binding protein 2
|
|
SHOC2
|
soc-2 suppressor of clear homolog (C. elegans)
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC2A3
|
solute carrier family 2 (facilitated glucose transporter), member 3
|
|
SLC3A1
|
solute carrier family 3 (amino acid transporter heavy chain), member 1
|
|
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
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SPRY4
|
sprouty homolog 4 (Drosophila)
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
SRD5A2
|
steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
|
|
TACR3
|
tachykinin receptor 3
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
THAP1
|
THAP domain containing, apoptosis associated protein 1
|
|
TOR1A
|
torsin family 1, member A (torsin A)
|
|
TP63
|
tumor protein p63
|
|
TPM3
|
tropomyosin 3
|
|
TRH
|
thyrotropin-releasing hormone
|
|
TRIM37
|
tripartite motif containing 37
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TSHB
|
thyroid stimulating hormone, beta
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TSPYL1
|
TSPY-like 1
|
|
TTC19
|
tetratricopeptide repeat domain 19
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
UPF3B
|
UPF3 regulator of nonsense transcripts homolog B (yeast)
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
WDR11
|
WD repeat domain 11
|
|
WRN
|
Werner syndrome, RecQ helicase-like
|
|
ZDHHC9
|
zinc finger, DHHC-type containing 9
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
