| Symbol |
Name |
|
AARS
|
alanyl-tRNA synthetase
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ADCK3
|
aarF domain containing kinase 3
|
|
AGK
|
acylglycerol kinase
|
|
AGRN
|
agrin
|
|
ALAS2
|
5'-aminolevulinate synthase 2
|
|
ANO5
|
anoctamin 5
|
|
ANTXR2
|
anthrax toxin receptor 2
|
|
APC
|
adenomatous polyposis coli
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ATL1
|
atlastin GTPase 1
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BICD2
|
bicaudal D homolog 2 (Drosophila)
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CD27
|
CD27 molecule
|
|
CD3E
|
CD3e molecule, epsilon (CD3-TCR complex)
|
|
CD3G
|
CD3g molecule, gamma (CD3-TCR complex)
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CFAP53
|
cilia and flagella associated protein 53
|
|
CFD
|
complement factor D (adipsin)
|
|
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)
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COL4A2
|
collagen, type IV, alpha 2
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
CREBBP
|
CREB binding protein
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
CYP2U1
|
cytochrome P450, family 2, subfamily U, polypeptide 1
|
|
DARS2
|
aspartyl-tRNA synthetase 2, mitochondrial
|
|
DHFR
|
dihydrofolate reductase
|
|
DLD
|
dihydrolipoamide dehydrogenase
|
|
DPAGT1
|
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
|
|
DPM1
|
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
EGR2
|
early growth response 2
|
|
EHHADH
|
enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
F10
|
coagulation factor X
|
|
F2
|
coagulation factor II (thrombin)
|
|
F7
|
coagulation factor VII (serum prothrombin conversion accelerator)
|
|
FAM126A
|
family with sequence similarity 126, member A
|
|
FBXO38
|
F-box protein 38
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
GABRG2
|
gamma-aminobutyric acid (GABA) A receptor, gamma 2
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GDF6
|
growth differentiation factor 6
|
|
GFI1B
|
growth factor independent 1B transcription repressor
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GLI2
|
GLI family zinc finger 2
|
|
GLI3
|
GLI family zinc finger 3
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GNAS
|
GNAS complex locus
|
|
GP6
|
glycoprotein VI (platelet)
|
|
GRIN2A
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2A
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
HSD11B2
|
hydroxysteroid (11-beta) dehydrogenase 2
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
|
KLHL41
|
kelch-like family member 41
|
|
KRT14
|
keratin 14, type I
|
|
KRT5
|
keratin 5, type II
|
|
KRT81
|
keratin 81, type II
|
|
KRT83
|
keratin 83, type II
|
|
KRT86
|
keratin 86, type II
|
|
LMNA
|
lamin A/C
|
|
MATR3
|
matrin 3
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MEGF10
|
multiple EGF-like-domains 10
|
|
MFN2
|
mitofusin 2
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MPC1
|
mitochondrial pyruvate carrier 1
|
|
MPZ
|
myelin protein zero
|
|
MRPL44
|
mitochondrial ribosomal protein L44
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
MYOT
|
myotilin
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NF2
|
neurofibromin 2 (merlin)
|
|
NIPA1
|
non imprinted in Prader-Willi/Angelman syndrome 1
|
|
NPHS2
|
nephrosis 2, idiopathic, steroid-resistant (podocin)
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PAK3
|
p21 protein (Cdc42/Rac)-activated kinase 3
|
|
PAX3
|
paired box 3
|
|
PDHX
|
pyruvate dehydrogenase complex, component X
|
|
PFKM
|
phosphofructokinase, muscle
|
|
PITX2
|
paired-like homeodomain 2
|
|
PMP22
|
peripheral myelin protein 22
|
|
PNPLA2
|
patatin-like phospholipase domain containing 2
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLG2
|
polymerase (DNA directed), gamma 2, accessory subunit
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PRICKLE2
|
prickle homolog 2 (Drosophila)
|
|
PROC
|
protein C (inactivator of coagulation factors Va and VIIIa)
|
|
PRX
|
periaxin
|
|
PSAP
|
prosaposin
|
|
PTCH1
|
patched 1
|
|
PTCH2
|
patched 2
|
|
PTPRO
|
protein tyrosine phosphatase, receptor type, O
|
|
QDPR
|
quinoid dihydropteridine reductase
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
REEP1
|
receptor accessory protein 1
|
|
ROGDI
|
rogdi homolog (Drosophila)
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN2A
|
sodium channel, voltage gated, type II alpha subunit
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SEPN1
|
selenoprotein N, 1
|
|
SETX
|
senataxin
|
|
SFXN4
|
sideroflexin 4
|
|
SGCA
|
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
|
|
SHH
|
sonic hedgehog
|
|
SIX3
|
SIX homeobox 3
|
|
SLC10A2
|
solute carrier family 10 (sodium/bile acid cotransporter), member 2
|
|
SLC30A10
|
solute carrier family 30, member 10
|
|
SLC3A1
|
solute carrier family 3 (amino acid transporter heavy chain), member 1
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC5A2
|
solute carrier family 5 (sodium/glucose cotransporter), member 2
|
|
SLC7A9
|
solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SPAST
|
spastin
|
|
SPR
|
sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
|
|
SPTAN1
|
spectrin, alpha, non-erythrocytic 1
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TH
|
tyrosine hydroxylase
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TPM3
|
tropomyosin 3
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
TUBG1
|
tubulin, gamma 1
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
VWF
|
von Willebrand factor
|
|
ZBTB18
|
zinc finger and BTB domain containing 18
|
