| Symbol |
Name |
|
ABHD12
|
abhydrolase domain containing 12
|
|
ACLY
|
ATP citrate lyase
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ACTB
|
actin, beta
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
ALG3
|
ALG3, alpha-1,3- mannosyltransferase
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
ALX3
|
ALX homeobox 3
|
|
AMBP
|
alpha-1-microglobulin/bikunin precursor
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ANO5
|
anoctamin 5
|
|
ANTXR2
|
anthrax toxin receptor 2
|
|
ARSB
|
arylsulfatase B
|
|
ASCC1
|
activating signal cointegrator 1 complex subunit 1
|
|
AZIN2
|
antizyme inhibitor 2
|
|
B3GAT3
|
beta-1,3-glucuronyltransferase 3
|
|
BCOR
|
BCL6 corepressor
|
|
BGN
|
biglycan
|
|
BICD2
|
bicaudal D homolog 2 (Drosophila)
|
|
CACNA1E
|
calcium channel, voltage-dependent, R type, alpha 1E subunit
|
|
CACNA1S
|
calcium channel, voltage-dependent, L type, alpha 1S subunit
|
|
CAPN3
|
calpain 3, (p94)
|
|
CASQ1
|
calsequestrin 1 (fast-twitch, skeletal muscle)
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CCN2
|
cellular communication network factor 2
|
|
CCR6
|
chemokine (C-C motif) receptor 6
|
|
CDH3
|
cadherin 3, type 1, P-cadherin (placental)
|
|
CDK13
|
cyclin-dependent kinase 13
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
CNTN1
|
contactin 1
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL1A1
|
collagen, type I, 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
|
|
COX2
|
|
|
CSH1
|
chorionic somatomammotropin hormone 1 (placental lactogen)
|
|
CSH2
|
chorionic somatomammotropin hormone 2
|
|
CSRP3
|
cysteine and glycine-rich protein 3 (cardiac LIM protein)
|
|
CYP26B1
|
cytochrome P450, family 26, subfamily B, polypeptide 1
|
|
DCN
|
decorin
|
|
DDHD2
|
DDHD domain containing 2
|
|
DDR2
|
discoidin domain receptor tyrosine kinase 2
|
|
DHCR24
|
24-dehydrocholesterol reductase
|
|
DMD
|
dystrophin
|
|
DNM2
|
dynamin 2
|
|
DPAGT1
|
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
|
|
ECEL1
|
endothelin converting enzyme-like 1
|
|
EGF
|
epidermal growth factor
|
|
EGFR
|
epidermal growth factor receptor
|
|
ELN
|
elastin
|
|
EMD
|
emerin
|
|
EPDR1
|
ependymin related 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FAM111B
|
family with sequence similarity 111, member B
|
|
FBN2
|
fibrillin 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FHL1
|
four and a half LIM domains 1
|
|
FKBP10
|
FK506 binding protein 10, 65 kDa
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
|
FN1
|
fibronectin 1
|
|
FZD4
|
frizzled class receptor 4
|
|
GADL1
|
glutamate decarboxylase-like 1
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GLE1
|
GLE1 RNA export mediator
|
|
GPR151
|
G protein-coupled receptor 151
|
|
GPRC6A
|
G protein-coupled receptor, class C, group 6, member A
|
|
GTF2H5
|
general transcription factor IIH, polypeptide 5
|
|
HAND1
|
heart and neural crest derivatives expressed 1
|
|
HIF1A
|
hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
|
|
HINT1
|
histidine triad nucleotide binding protein 1
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HOXD13
|
homeobox D13
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IDS
|
iduronate 2-sulfatase
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
IL10
|
interleukin 10
|
|
IL1A
|
interleukin 1, alpha
|
|
IL1B
|
interleukin 1, beta
|
|
IL4
|
interleukin 4
|
|
IRF5
|
interferon regulatory factor 5
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
KCNK9
|
potassium channel, two pore domain subfamily K, member 9
|
|
KIAA0319L
|
KIAA0319-like
|
|
KIDINS220
|
kinase D-interacting substrate, 220kDa
|
|
KLHL40
|
kelch-like family member 40
|
|
KY
|
kyphoscoliosis peptidase
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
LAMA2
|
laminin, alpha 2
|
|
LARGE
|
like-glycosyltransferase
|
|
LGR6
|
leucine-rich repeat containing G protein-coupled receptor 6
|
|
LMNA
|
lamin A/C
|
|
LOX
|
lysyl oxidase
|
|
LPAR3
|
lysophosphatidic acid receptor 3
|
|
LUM
|
lumican
|
|
MAGEL2
|
melanoma antigen family L2
|
|
MARCKSL1
|
MARCKS-like 1
|
|
MED12
|
mediator complex subunit 12
|
|
MMP1
|
matrix metallopeptidase 1
|
|
MMP9
|
matrix metallopeptidase 9
|
|
MPEG1
|
macrophage expressed 1
|
|
MRGPRX1
|
MAS-related GPR, member X1
|
|
MRGPRX3
|
MAS-related GPR, member X3
|
|
MRGPRX4
|
MAS-related GPR, member X4
|
|
MUC2
|
mucin 2, oligomeric mucus/gel-forming
|
|
MYBPC1
|
myosin binding protein C, slow type
|
|
MYH2
|
myosin, heavy chain 2, skeletal muscle, adult
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYOT
|
myotilin
|
|
MYPN
|
myopalladin
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NALCN
|
sodium leak channel, non selective
|
|
NEDD4L
|
neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
|
|
NGLY1
|
N-glycanase 1
|
|
NHS
|
Nance-Horan syndrome (congenital cataracts and dental anomalies)
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
ORC1
|
origin recognition complex, subunit 1
|
|
OXER1
|
oxoeicosanoid (OXE) receptor 1
|
|
PAX3
|
paired box 3
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PEX6
|
peroxisomal biogenesis factor 6
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3CB
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
|
|
PIK3CD
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
|
|
PIK3CG
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
|
|
PIP
|
prolactin-induced protein
|
|
PKD1
|
polycystic kidney disease 1 (autosomal dominant)
|
|
PLA2G1B
|
phospholipase A2, group IB (pancreas)
|
|
PLA2G2A
|
phospholipase A2, group IIA (platelets, synovial fluid)
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLEC
|
plectin
|
|
PLEKHG5
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
|
PLG
|
plasminogen
|
|
PLOD2
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PRG4
|
proteoglycan 4
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
PTCH1
|
patched 1
|
|
PTGS2
|
prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
|
|
PTK2
|
protein tyrosine kinase 2
|
|
PYGM
|
phosphorylase, glycogen, muscle
|
|
RAB23
|
RAB23, member RAS oncogene family
|
|
RLN2
|
relaxin 2
|
|
ROM1
|
retinal outer segment membrane protein 1
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPS27
|
ribosomal protein S27
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SAMHD1
|
SAM domain and HD domain 1
|
|
SCARF2
|
scavenger receptor class F, member 2
|
|
SELENON
|
selenoprotein N
|
|
SERPINE1
|
serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
|
|
SETD2
|
SET domain containing 2
|
|
SFXN1
|
sideroflexin 1
|
|
SGCA
|
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
|
|
SGCD
|
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
|
|
SGCG
|
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SLC39A13
|
solute carrier family 39 (zinc transporter), member 13
|
|
SLC9A1
|
solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
|
|
SMAD7
|
SMAD family member 7
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SMN2
|
survival of motor neuron 2, centromeric
|
|
STRA6
|
stimulated by retinoic acid 6
|
|
SYNE1
|
spectrin repeat containing, nuclear envelope 1
|
|
SYNE2
|
spectrin repeat containing, nuclear envelope 2
|
|
TAC1
|
tachykinin, precursor 1
|
|
TBX15
|
T-box 15
|
|
TET3
|
tet methylcytosine dioxygenase 3
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGFB2
|
transforming growth factor, beta 2
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
THY1
|
Thy-1 cell surface antigen
|
|
TIMP1
|
TIMP metallopeptidase inhibitor 1
|
|
TIMP4
|
TIMP metallopeptidase inhibitor 4
|
|
TMEM43
|
transmembrane protein 43
|
|
TNF
|
tumor necrosis factor
|
|
TNFAIP6
|
tumor necrosis factor, alpha-induced protein 6
|
|
TNNI2
|
troponin I type 2 (skeletal, fast)
|
|
TNNT1
|
troponin T type 1 (skeletal, slow)
|
|
TOR1A
|
torsin family 1, member A (torsin A)
|
|
TOR1AIP1
|
torsin A interacting protein 1
|
|
TP63
|
tumor protein p63
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TPSD1
|
tryptase delta 1
|
|
TRPC3
|
transient receptor potential cation channel, subfamily C, member 3
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TTK
|
TTK protein kinase
|
|
TTN
|
titin
|
|
UROS
|
uroporphyrinogen III synthase
|
|
WDR73
|
WD repeat domain 73
|
