| Symbol |
Name |
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ACADSB
|
acyl-CoA dehydrogenase, short/branched chain
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ADAMTS2
|
ADAM metallopeptidase with thrombospondin type 1 motif, 2
|
|
ADCY5
|
adenylate cyclase 5
|
|
AGK
|
acylglycerol kinase
|
|
AHCY
|
adenosylhomocysteinase
|
|
AHI1
|
Abelson helper integration site 1
|
|
ALDH5A1
|
aldehyde dehydrogenase 5 family, member A1
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
AP3B1
|
adaptor-related protein complex 3, beta 1 subunit
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ASPM
|
asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
|
|
ATL1
|
atlastin GTPase 1
|
|
ATP2B3
|
ATPase, Ca++ transporting, plasma membrane 3
|
|
ATP6AP2
|
ATPase, H+ transporting, lysosomal accessory protein 2
|
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
|
AUH
|
AU RNA binding protein/enoyl-CoA hydratase
|
|
B3GAT3
|
beta-1,3-glucuronyltransferase 3
|
|
BICD2
|
bicaudal D homolog 2 (Drosophila)
|
|
BIN1
|
bridging integrator 1
|
|
BMP1
|
bone morphogenetic protein 1
|
|
BSND
|
barttin CLCNK-type chloride channel accessory beta subunit
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CDC6
|
cell division cycle 6
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CFL2
|
cofilin 2 (muscle)
|
|
CHKB
|
choline kinase beta
|
|
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)
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
CIB2
|
calcium and integrin binding family member 2
|
|
CLCNKA
|
chloride channel, voltage-sensitive Ka
|
|
CLCNKB
|
chloride channel, voltage-sensitive Kb
|
|
CNTNAP2
|
contactin associated protein-like 2
|
|
COA5
|
cytochrome c oxidase assembly factor 5
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX14
|
COX14 cytochrome c oxidase assembly factor
|
|
COX20
|
COX20 cytochrome c oxidase assembly factor
|
|
COX6B1
|
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
CYP27B1
|
cytochrome P450, family 27, subfamily B, polypeptide 1
|
|
CYP2U1
|
cytochrome P450, family 2, subfamily U, polypeptide 1
|
|
DARS
|
aspartyl-tRNA synthetase
|
|
DARS2
|
aspartyl-tRNA synthetase 2, mitochondrial
|
|
DCX
|
doublecortin
|
|
DLAT
|
dihydrolipoamide S-acetyltransferase
|
|
DNM2
|
dynamin 2
|
|
DPAGT1
|
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
DSE
|
dermatan sulfate epimerase
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
EGR2
|
early growth response 2
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
FAM126A
|
family with sequence similarity 126, member A
|
|
FASTKD2
|
FAST kinase domains 2
|
|
FBN2
|
fibrillin 2
|
|
FGD4
|
FYVE, RhoGEF and PH domain containing 4
|
|
FGF3
|
fibroblast growth factor 3
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FKBP14
|
FK506 binding protein 14, 22 kDa
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLNA
|
filamin A, alpha
|
|
FOXG1
|
forkhead box G1
|
|
FTSJ1
|
FtsJ RNA methyltransferase homolog 1 (E. coli)
|
|
GALE
|
UDP-galactose-4-epimerase
|
|
GBA
|
glucosidase, beta, acid
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GFM1
|
G elongation factor, mitochondrial 1
|
|
GFPT1
|
glutamine--fructose-6-phosphate transaminase 1
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
HARS
|
histidyl-tRNA synthetase
|
|
HEPACAM
|
hepatic and glial cell adhesion molecule
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
HOXA1
|
homeobox A1
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IGF1R
|
insulin-like growth factor 1 receptor
|
|
INS
|
insulin
|
|
ITGA7
|
integrin, alpha 7
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
KCNC3
|
potassium channel, voltage gated Shaw related subfamily C, member 3
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KCNQ2
|
potassium channel, voltage gated KQT-like subfamily Q, member 2
|
|
KIAA0226
|
KIAA0226
|
|
KLHL41
|
kelch-like family member 41
|
|
LAMA1
|
laminin, alpha 1
|
|
LAMA2
|
laminin, alpha 2
|
|
LARGE
|
like-glycosyltransferase
|
|
LIAS
|
lipoic acid synthetase
|
|
LMNA
|
lamin A/C
|
|
MAOA
|
monoamine oxidase A
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MEF2C
|
myocyte enhancer factor 2C
|
|
MEGF10
|
multiple EGF-like-domains 10
|
|
MLC1
|
megalencephalic leukoencephalopathy with subcortical cysts 1
|
|
MPZ
|
myelin protein zero
|
|
MTMR2
|
myotubularin related protein 2
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
MYO7A
|
myosin VIIA
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NEB
|
nebulin
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NT5C2
|
5'-nucleotidase, cytosolic II
|
|
PAK3
|
p21 protein (Cdc42/Rac)-activated kinase 3
|
|
PCBD1
|
pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
|
|
PCDH15
|
protocadherin-related 15
|
|
PET100
|
PET100 homolog (S. cerevisiae)
|
|
PHKA2
|
phosphorylase kinase, alpha 2 (liver)
|
|
PHKG2
|
phosphorylase kinase, gamma 2 (testis)
|
|
PLEC
|
plectin
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
PMP22
|
peripheral myelin protein 22
|
|
PNKP
|
polynucleotide kinase 3'-phosphatase
|
|
PNP
|
purine nucleoside phosphorylase
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PRKRA
|
protein kinase, interferon-inducible double stranded RNA dependent activator
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRX
|
periaxin
|
|
PTCH1
|
patched 1
|
|
PTCH2
|
patched 2
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPRQ
|
protein tyrosine phosphatase, receptor type, Q
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SCN11A
|
sodium channel, voltage gated, type XI alpha subunit
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SEPN1
|
selenoprotein N, 1
|
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SP7
|
Sp7 transcription factor
|
|
SPEG
|
SPEG complex locus
|
|
SPG20
|
spastic paraplegia 20 (Troyer syndrome)
|
|
SPG21
|
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
SYNGAP1
|
synaptic Ras GTPase activating protein 1
|
|
TACO1
|
translational activator of mitochondrially encoded cytochrome c oxidase I
|
|
TAZ
|
tafazzin
|
|
TCF4
|
transcription factor 4
|
|
TH
|
tyrosine hydroxylase
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TNNT1
|
troponin T type 1 (skeletal, slow)
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TPM3
|
tropomyosin 3
|
|
TRMT10A
|
tRNA methyltransferase 10 homolog A (S. cerevisiae)
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TTN
|
titin
|
|
TUBA1A
|
tubulin, alpha 1a
|
|
TUBB2B
|
tubulin, beta 2B class IIb
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UBE3B
|
ubiquitin protein ligase E3B
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
ZBTB24
|
zinc finger and BTB domain containing 24
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
