| Symbol |
Name |
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ABCD3
|
ATP-binding cassette, sub-family D (ALD), member 3
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
ACADS
|
acyl-CoA dehydrogenase, C-2 to C-3 short chain
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ACTG2
|
actin, gamma 2, smooth muscle, enteric
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
AIMP1
|
aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
|
|
ALG1
|
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
|
|
ALG13
|
ALG13, UDP-N-acetylglucosaminyltransferase subunit
|
|
ALG3
|
ALG3, alpha-1,3- mannosyltransferase
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
ALX3
|
ALX homeobox 3
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ANTXR2
|
anthrax toxin receptor 2
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
AP4E1
|
adaptor-related protein complex 4, epsilon 1 subunit
|
|
AP4S1
|
adaptor-related protein complex 4, sigma 1 subunit
|
|
AR
|
androgen receptor
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARX
|
aristaless related homeobox
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATR
|
ATR serine/threonine kinase
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
B3GAT3
|
beta-1,3-glucuronyltransferase 3
|
|
B4GALT7
|
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BANF1
|
barrier to autointegration factor 1
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCOR
|
BCL6 corepressor
|
|
BCR
|
breakpoint cluster region
|
|
BICD2
|
bicaudal D homolog 2 (Drosophila)
|
|
BIN1
|
bridging integrator 1
|
|
BMP4
|
bone morphogenetic protein 4
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CAPN3
|
calpain 3, (p94)
|
|
CASR
|
calcium-sensing receptor
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CCR6
|
chemokine (C-C motif) receptor 6
|
|
CDC6
|
cell division cycle 6
|
|
CDH3
|
cadherin 3, type 1, P-cadherin (placental)
|
|
CDT1
|
chromatin licensing and DNA replication factor 1
|
|
CHAT
|
choline O-acetyltransferase
|
|
CHMP1A
|
charged multivesicular body protein 1A
|
|
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)
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
CLCF1
|
cardiotrophin-like cytokine factor 1
|
|
CLIC2
|
chloride intracellular channel 2
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
CNTN1
|
contactin 1
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COL12A1
|
collagen, type XII, alpha 1
|
|
COL17A1
|
collagen, type XVII, alpha 1
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CREBBP
|
CREB binding protein
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
CRLF1
|
cytokine receptor-like factor 1
|
|
CRYAB
|
crystallin, alpha B
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
CTGF
|
connective tissue growth factor
|
|
DAG1
|
dystroglycan 1 (dystrophin-associated glycoprotein 1)
|
|
DDR2
|
discoidin domain receptor tyrosine kinase 2
|
|
DES
|
desmin
|
|
DHCR24
|
24-dehydrocholesterol reductase
|
|
DHODH
|
dihydroorotate dehydrogenase (quinone)
|
|
DLL3
|
delta-like 3 (Drosophila)
|
|
DMD
|
dystrophin
|
|
DNM2
|
dynamin 2
|
|
DOK7
|
docking protein 7
|
|
DPAGT1
|
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
|
|
DPM1
|
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
|
|
DPM2
|
dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
|
|
DRD5
|
dopamine receptor D5
|
|
DST
|
dystonin
|
|
DYM
|
dymeclin
|
|
ECE1
|
endothelin converting enzyme 1
|
|
ECEL1
|
endothelin converting enzyme-like 1
|
|
EFNB1
|
ephrin-B1
|
|
ELN
|
elastin
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
EMD
|
emerin
|
|
EMG1
|
EMG1 N1-specific pseudouridine methyltransferase
|
|
ERBB3
|
erb-b2 receptor tyrosine kinase 3
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC3
|
excision repair cross-complementation group 3
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC5
|
excision repair cross-complementation group 5
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
EXOSC3
|
exosome component 3
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FAM20C
|
family with sequence similarity 20, member C
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FBN1
|
fibrillin 1
|
|
FBN2
|
fibrillin 2
|
|
FERMT1
|
fermitin family member 1
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FHL1
|
four and a half LIM domains 1
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FKBP10
|
FK506 binding protein 10, 65 kDa
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLNA
|
filamin A, alpha
|
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
|
FLVCR2
|
feline leukemia virus subgroup C cellular receptor family, member 2
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GAD1
|
glutamate decarboxylase 1 (brain, 67kDa)
|
|
GATA3
|
GATA binding protein 3
|
|
GBA
|
glucosidase, beta, acid
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GDF5
|
growth differentiation factor 5
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GLE1
|
GLE1 RNA export mediator
|
|
GLI3
|
GLI family zinc finger 3
|
|
GLUL
|
glutamate-ammonia ligase
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GNA11
|
guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
|
|
GNPAT
|
glyceronephosphate O-acyltransferase
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GSC
|
goosecoid homeobox
|
|
GTF2H5
|
general transcription factor IIH, polypeptide 5
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
GUSB
|
glucuronidase, beta
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HES7
|
hes family bHLH transcription factor 7
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HOXD13
|
homeobox D13
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSPD1
|
heat shock 60kDa protein 1 (chaperonin)
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IBA57
|
IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
|
|
IDS
|
iduronate 2-sulfatase
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IMPAD1
|
inositol monophosphatase domain containing 1
|
|
INS
|
insulin
|
|
IRF5
|
interferon regulatory factor 5
|
|
ITCH
|
itchy E3 ubiquitin protein ligase
|
|
ITGA6
|
integrin, alpha 6
|
|
ITGB4
|
integrin, beta 4
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KIAA0319L
|
KIAA0319-like
|
|
KIF5C
|
kinesin family member 5C
|
|
KLHL41
|
kelch-like family member 41
|
|
KRT1
|
keratin 1, type II
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
LAMA2
|
laminin, alpha 2
|
|
LAMA3
|
laminin, alpha 3
|
|
LAMB3
|
laminin, beta 3
|
|
LAMC2
|
laminin, gamma 2
|
|
LARGE
|
like-glycosyltransferase
|
|
LEMD3
|
LEM domain containing 3
|
|
LFNG
|
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
|
|
LIAS
|
lipoic acid synthetase
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMBR1
|
limb development membrane protein 1
|
|
LMNA
|
lamin A/C
|
|
LPIN2
|
lipin 2
|
|
MAFB
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
|
|
MAGEL2
|
melanoma antigen family L2
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MED12
|
mediator complex subunit 12
|
|
MEGF10
|
multiple EGF-like-domains 10
|
|
MEGF8
|
multiple EGF-like-domains 8
|
|
MESP2
|
mesoderm posterior basic helix-loop-helix transcription factor 2
|
|
MLH1
|
mutL homolog 1
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MT-TF
|
tRNA
|
|
MT-TH
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
MTM1
|
myotubularin 1
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
MYBPC1
|
myosin binding protein C, slow type
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
MYH8
|
myosin, heavy chain 8, skeletal muscle, perinatal
|
|
MYOT
|
myotilin
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
ND1
|
|
|
NDE1
|
nudE neurodevelopment protein 1
|
|
NEB
|
nebulin
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOG
|
noggin
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
NT5C2
|
5'-nucleotidase, cytosolic II
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
ORC1
|
origin recognition complex, subunit 1
|
|
ORC4
|
origin recognition complex, subunit 4
|
|
ORC6
|
origin recognition complex, subunit 6
|
|
PAX3
|
paired box 3
|
|
PCNA
|
proliferating cell nuclear antigen
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PHF6
|
PHD finger protein 6
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIK3R2
|
phosphoinositide-3-kinase, regulatory subunit 2 (beta)
|
|
PIP5K1C
|
phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
|
|
PITX1
|
paired-like homeodomain 1
|
|
PLEC
|
plectin
|
|
PLEKHG5
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
|
PLOD2
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
|
|
PLOD3
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
|
|
PLP1
|
proteolipid protein 1
|
|
PMM2
|
phosphomannomutase 2
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
POLD1
|
polymerase (DNA directed), delta 1, catalytic subunit
|
|
POMK
|
protein-O-mannose kinase
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PRDM16
|
PR domain containing 16
|
|
PRG4
|
proteoglycan 4
|
|
PSAT1
|
phosphoserine aminotransferase 1
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PTRF
|
polymerase I and transcript release factor
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
RAB18
|
RAB18, member RAS oncogene family
|
|
RAB23
|
RAB23, member RAS oncogene family
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RBM28
|
RNA binding motif protein 28
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RUNX2
|
runt-related transcription factor 2
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SATB2
|
SATB homeobox 2
|
|
SCARF2
|
scavenger receptor class F, member 2
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHAF1
|
succinate dehydrogenase complex assembly factor 1
|
|
SEPN1
|
selenoprotein N, 1
|
|
SEPSECS
|
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
|
|
SETBP1
|
SET binding protein 1
|
|
SGCA
|
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
|
|
SGCG
|
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
|
|
SH3PXD2B
|
SH3 and PX domains 2B
|
|
SHH
|
sonic hedgehog
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SKI
|
SKI proto-oncogene
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC25A19
|
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SLC2A10
|
solute carrier family 2 (facilitated glucose transporter), member 10
|
|
SLC35A3
|
solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
|
|
SLC39A13
|
solute carrier family 39 (zinc transporter), member 13
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SMAD3
|
SMAD family member 3
|
|
SMAD4
|
SMAD family member 4
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SPEG
|
SPEG complex locus
|
|
SPG20
|
spastic paraplegia 20 (Troyer syndrome)
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
STAC3
|
SH3 and cysteine rich domain 3
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX15
|
T-box 15
|
|
TBX2
|
T-box 2
|
|
TBX3
|
T-box 3
|
|
TBX4
|
T-box 4
|
|
TCTN3
|
tectonic family member 3
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TGM1
|
transglutaminase 1
|
|
TMEM70
|
transmembrane protein 70
|
|
TNNI2
|
troponin I type 2 (skeletal, fast)
|
|
TNNT1
|
troponin T type 1 (skeletal, slow)
|
|
TNNT3
|
troponin T type 3 (skeletal, fast)
|
|
TNPO3
|
transportin 3
|
|
TP63
|
tumor protein p63
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TPM3
|
tropomyosin 3
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TRPV3
|
transient receptor potential cation channel, subfamily V, member 3
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TSEN54
|
TSEN54 tRNA splicing endonuclease subunit
|
|
TUBB3
|
tubulin, beta 3 class III
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
|
UPF3B
|
UPF3 regulator of nonsense transcripts homolog B (yeast)
|
|
UROS
|
uroporphyrinogen III synthase
|
|
VIPAS39
|
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
|
|
VPS33B
|
vacuolar protein sorting 33 homolog B (yeast)
|
|
VPS53
|
vacuolar protein sorting 53 homolog (S. cerevisiae)
|
|
VRK1
|
vaccinia related kinase 1
|
|
VTI1A
|
vesicle transport through interaction with t-SNAREs 1A
|
|
WISP3
|
WNT1 inducible signaling pathway protein 3
|
|
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
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
|
ZDHHC9
|
zinc finger, DHHC-type containing 9
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
|
ZNF335
|
zinc finger protein 335
|
|
ZNF592
|
zinc finger protein 592
|
