| Symbol |
Name |
|
ABL1
|
ABL proto-oncogene 1, non-receptor tyrosine kinase
|
|
ACADS
|
acyl-CoA dehydrogenase, C-2 to C-3 short chain
|
|
ACER3
|
alkaline ceramidase 3
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AHSG
|
alpha-2-HS-glycoprotein
|
|
AIMP2
|
aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
|
|
ALG1
|
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
AP4B1
|
adaptor-related protein complex 4, beta 1 subunit
|
|
AP4E1
|
adaptor-related protein complex 4, epsilon 1 subunit
|
|
AP4S1
|
adaptor-related protein complex 4, sigma 1 subunit
|
|
ARX
|
aristaless related homeobox
|
|
ASXL3
|
additional sex combs like transcriptional regulator 3
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
B4GALT7
|
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
|
|
BANF1
|
barrier to autointegration factor 1
|
|
BIN1
|
bridging integrator 1
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
BRAT1
|
BRCA1-associated ATM activator 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CAPN3
|
calpain 3, (p94)
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CAVIN1
|
caveolae associated protein 1
|
|
CCN2
|
cellular communication network factor 2
|
|
CCR6
|
chemokine (C-C motif) receptor 6
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
COASY
|
CoA synthase
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COL12A1
|
collagen, type XII, alpha 1
|
|
COL2A1
|
collagen, type II, 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
|
|
COQ7
|
coenzyme Q7 homolog, ubiquinone (yeast)
|
|
CREBBP
|
CREB binding protein
|
|
CRYAB
|
crystallin, alpha B
|
|
DARS2
|
aspartyl-tRNA synthetase 2, mitochondrial
|
|
DDX3X
|
DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked
|
|
DEGS1
|
delta(4)-desaturase, sphingolipid 1
|
|
DMD
|
dystrophin
|
|
DNM2
|
dynamin 2
|
|
DST
|
dystonin
|
|
ELN
|
elastin
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
EMD
|
emerin
|
|
EP300
|
E1A binding protein p300
|
|
EPCAM
|
epithelial cell adhesion molecule
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
EXOSC3
|
exosome component 3
|
|
EXOSC9
|
exosome component 9
|
|
FA2H
|
fatty acid 2-hydroxylase
|
|
FAN1
|
FANCD2/FANCI-associated nuclease 1
|
|
FBN1
|
fibrillin 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FHL1
|
four and a half LIM domains 1
|
|
FKTN
|
fukutin
|
|
FLVCR2
|
feline leukemia virus subgroup C cellular receptor family, member 2
|
|
FOS
|
FBJ murine osteosarcoma viral oncogene homolog
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
FUK
|
fucokinase
|
|
FUT8
|
fucosyltransferase 8 (alpha (1,6) fucosyltransferase)
|
|
GAD1
|
glutamate decarboxylase 1 (brain, 67kDa)
|
|
GBA
|
glucosidase, beta, acid
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GDF5
|
growth differentiation factor 5
|
|
GLDN
|
gliomedin
|
|
GLI3
|
GLI family zinc finger 3
|
|
GNPAT
|
glyceronephosphate O-acyltransferase
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
GRIA4
|
glutamate receptor, ionotropic, AMPA 4
|
|
GSC
|
goosecoid homeobox
|
|
GUSB
|
glucuronidase, beta
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HIKESHI
|
heat shock protein nuclear import factor hikeshi
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HSPD1
|
heat shock 60kDa protein 1 (chaperonin)
|
|
HUWE1
|
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
|
|
IARS2
|
isoleucyl-tRNA synthetase 2, mitochondrial
|
|
IDS
|
iduronate 2-sulfatase
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IRF2BPL
|
interferon regulatory factor 2 binding protein-like
|
|
IRF5
|
interferon regulatory factor 5
|
|
ITGB6
|
integrin, beta 6
|
|
KCNJ6
|
potassium channel, inwardly rectifying subfamily J, member 6
|
|
KCTD7
|
potassium channel tetramerization domain containing 7
|
|
KLC2
|
kinesin light chain 2
|
|
KLHL40
|
kelch-like family member 40
|
|
KLHL7
|
kelch-like family member 7
|
|
KMT2B
|
lysine (K)-specific methyltransferase 2B
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT1
|
keratin 1, type II
|
|
LAMA2
|
laminin, alpha 2
|
|
LARGE
|
like-glycosyltransferase
|
|
LEMD3
|
LEM domain containing 3
|
|
LIAS
|
lipoic acid synthetase
|
|
LMNA
|
lamin A/C
|
|
LPIN2
|
lipin 2
|
|
LTBP4
|
latent transforming growth factor beta binding protein 4
|
|
MAGEL2
|
melanoma antigen family L2
|
|
MED12
|
mediator complex subunit 12
|
|
MFN2
|
mitofusin 2
|
|
MLH1
|
mutL homolog 1
|
|
MLH3
|
mutL homolog 3
|
|
MLXIPL
|
MLX interacting protein-like
|
|
MMP1
|
matrix metallopeptidase 1
|
|
MPDU1
|
mannose-P-dolichol utilization defect 1
|
|
MRPS34
|
mitochondrial ribosomal protein S34
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MTM1
|
myotubularin 1
|
|
MTMR14
|
myotubularin related protein 14
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
MYL1
|
myosin, light chain 1, alkali; skeletal, fast
|
|
MYO18B
|
myosin XVIIIB
|
|
NACC1
|
nucleus accumbens associated 1, BEN and BTB (POZ) domain containing
|
|
NCAPG2
|
non-SMC condensin II complex, subunit G2
|
|
NDUFAF4
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
|
|
NEB
|
nebulin
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NKX3-2
|
NK3 homeobox 2
|
|
NOTCH2
|
notch 2
|
|
NT5C2
|
5'-nucleotidase, cytosolic II
|
|
ORAI1
|
ORAI calcium release-activated calcium modulator 1
|
|
OTUD6B
|
OTU domain containing 6B
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PIGP
|
phosphatidylinositol glycan anchor biosynthesis, class P
|
|
PIGY
|
phosphatidylinositol glycan anchor biosynthesis, class Y
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PLEC
|
plectin
|
|
PLOD2
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
|
|
PLP1
|
proteolipid protein 1
|
|
PMM2
|
phosphomannomutase 2
|
|
PMS1
|
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
|
|
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
|
|
POP1
|
processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PSMB4
|
proteasome (prosome, macropain) subunit, beta type, 4
|
|
PSMB9
|
proteasome (prosome, macropain) subunit, beta type, 9
|
|
PTRH2
|
peptidyl-tRNA hydrolase 2
|
|
RAB18
|
RAB18, member RAS oncogene family
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RARS2
|
arginyl-tRNA synthetase 2, mitochondrial
|
|
RBM28
|
RNA binding motif protein 28
|
|
RNF13
|
ring finger protein 13
|
|
ROGDI
|
rogdi homolog (Drosophila)
|
|
RPS20
|
ribosomal protein S20
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SAMHD1
|
SAM domain and HD domain 1
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHAF1
|
succinate dehydrogenase complex assembly factor 1
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SELENON
|
selenoprotein N
|
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
|
SGCA
|
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
|
|
SGCG
|
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC1A2
|
solute carrier family 1 (glial high affinity glutamate transporter), member 2
|
|
SLC25A19
|
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
|
|
SLC25A46
|
solute carrier family 25, member 46
|
|
SLC2A10
|
solute carrier family 2 (facilitated glucose transporter), member 10
|
|
SLC39A13
|
solute carrier family 39 (zinc transporter), member 13
|
|
SLC39A14
|
solute carrier family 39 (zinc transporter), member 14
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SMARCAD1
|
SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
|
|
SNAP25
|
synaptosomal-associated protein, 25kDa
|
|
SON
|
SON DNA binding protein
|
|
SPART
|
spartin
|
|
SPAST
|
spastin
|
|
STAC3
|
SH3 and cysteine rich domain 3
|
|
TANGO2
|
transport and golgi organization 2 homolog (Drosophila)
|
|
TAPT1
|
transmembrane anterior posterior transformation 1
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TMEM107
|
transmembrane protein 107
|
|
TMEM8C
|
transmembrane protein 8C
|
|
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
|
|
TTN
|
titin
|
|
UCHL1
|
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
|
|
UFC1
|
ubiquitin-fold modifier conjugating enzyme 1
|
|
VAMP1
|
vesicle-associated membrane protein 1 (synaptobrevin 1)
|
|
VPS11
|
vacuolar protein sorting 11 homolog (S. cerevisiae)
|
|
VPS33A
|
vacuolar protein sorting 33 homolog A (S. cerevisiae)
|
|
VPS53
|
vacuolar protein sorting 53 homolog (S. cerevisiae)
|
|
WDR4
|
WD repeat domain 4
|
|
WDR45B
|
WD repeat domain 45B
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
