| Symbol |
Name |
|
A2ML1
|
alpha-2-macroglobulin-like 1
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ACTB
|
actin, beta
|
|
ACTG1
|
actin gamma 1
|
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
AGRN
|
agrin
|
|
AHI1
|
Abelson helper integration site 1
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALDOA
|
aldolase A, fructose-bisphosphate
|
|
ALX3
|
ALX homeobox 3
|
|
ANOS1
|
anosmin 1
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARL13B
|
ADP-ribosylation factor-like 13B
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
ATXN3
|
ataxin 3
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B9D1
|
B9 protein domain 1
|
|
BCOR
|
BCL6 corepressor
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BIN1
|
bridging integrator 1
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
CBL
|
Cbl proto-oncogene, E3 ubiquitin protein ligase
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CHAT
|
choline O-acetyltransferase
|
|
CHCHD10
|
coiled-coil-helix-coiled-coil-helix domain containing 10
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHL1
|
cell adhesion molecule L1-like
|
|
CHN1
|
chimerin 1
|
|
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)
|
|
CLPP
|
caseinolytic mitochondrial matrix peptidase proteolytic subunit
|
|
CNTN4
|
contactin 4
|
|
COA5
|
cytochrome c oxidase assembly factor 5
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COLEC11
|
collectin sub-family member 11
|
|
COLQ
|
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
|
|
COMT
|
catechol-O-methyltransferase
|
|
COX1
|
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX14
|
COX14 cytochrome c oxidase assembly factor
|
|
COX2
|
|
|
COX20
|
COX20 cytochrome c oxidase assembly factor
|
|
COX3
|
|
|
COX6B1
|
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
|
|
CRBN
|
cereblon
|
|
CREBBP
|
CREB binding protein
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
DBH
|
dopamine beta-hydroxylase (dopamine beta-monooxygenase)
|
|
DCHS1
|
dachsous cadherin-related 1
|
|
DDC
|
dopa decarboxylase (aromatic L-amino acid decarboxylase)
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
|
DLAT
|
dihydrolipoamide S-acetyltransferase
|
|
DNA2
|
DNA replication helicase/nuclease 2
|
|
DNM2
|
dynamin 2
|
|
DOK7
|
docking protein 7
|
|
DUSP6
|
dual specificity phosphatase 6
|
|
EARS2
|
glutamyl-tRNA synthetase 2, mitochondrial
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
EFEMP2
|
EGF containing fibulin-like extracellular matrix protein 2
|
|
EPHX1
|
epoxide hydrolase 1, microsomal (xenobiotic)
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERF
|
Ets2 repressor factor
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCB
|
Fanconi anemia, complementation group B
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FANCF
|
Fanconi anemia, complementation group F
|
|
FANCG
|
Fanconi anemia, complementation group G
|
|
FANCI
|
Fanconi anemia, complementation group I
|
|
FANCL
|
Fanconi anemia, complementation group L
|
|
FANCM
|
Fanconi anemia, complementation group M
|
|
FASTKD2
|
FAST kinase domains 2
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FBLN5
|
fibulin 5
|
|
FBN1
|
fibrillin 1
|
|
FEZF1
|
FEZ family zinc finger 1
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGF17
|
fibroblast growth factor 17
|
|
FGF8
|
fibroblast growth factor 8 (androgen-induced)
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FLNA
|
filamin A, alpha
|
|
FLRT3
|
fibronectin leucine rich transmembrane protein 3
|
|
FOXC2
|
forkhead box C2
|
|
FOXL2
|
forkhead box L2
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
GATA3
|
GATA binding protein 3
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GFPT1
|
glutamine--fructose-6-phosphate transaminase 1
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GRM1
|
glutamate receptor, metabotropic 1
|
|
HARS2
|
histidyl-tRNA synthetase 2, mitochondrial
|
|
HDAC8
|
histone deacetylase 8
|
|
HESX1
|
HESX homeobox 1
|
|
HIRA
|
histone cell cycle regulator
|
|
HMGB3
|
high mobility group box 3
|
|
HPGD
|
hydroxyprostaglandin dehydrogenase 15-(NAD)
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HS6ST1
|
heparan sulfate 6-O-sulfotransferase 1
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IDS
|
iduronate 2-sulfatase
|
|
IER3IP1
|
immediate early response 3 interacting protein 1
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IL17RD
|
interleukin 17 receptor D
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
INS
|
insulin
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KIF11
|
kinesin family member 11
|
|
KIF1BP
|
KIF1 binding protein
|
|
KIF21A
|
kinesin family member 21A
|
|
KIF7
|
kinesin family member 7
|
|
KISS1R
|
KISS1 receptor
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT14
|
keratin 14, type I
|
|
KRT5
|
keratin 5, type II
|
|
LARS2
|
leucyl-tRNA synthetase 2, mitochondrial
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LMNA
|
lamin A/C
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
LRP4
|
low density lipoprotein receptor-related protein 4
|
|
MAMLD1
|
mastermind-like domain containing 1
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MASP1
|
mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MGME1
|
mitochondrial genome maintenance exonuclease 1
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MKS1
|
Meckel syndrome, type 1
|
|
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
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
MYH8
|
myosin, heavy chain 8, skeletal muscle, perinatal
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
ND1
|
|
|
NDUFA1
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
|
|
NDUFA11
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
|
|
NDUFAF1
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
|
|
NDUFAF2
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
|
|
NDUFAF3
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
|
|
NDUFAF4
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
|
|
NDUFAF5
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
|
|
NDUFB3
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
|
|
NDUFB9
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
|
|
NDUFS1
|
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
|
|
NDUFS2
|
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
|
|
NDUFS3
|
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
|
|
NDUFS4
|
NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
|
|
NDUFS6
|
NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
|
|
NDUFV1
|
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
|
|
NDUFV2
|
NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
|
|
NELFA
|
negative elongation factor complex member A
|
|
NF1
|
neurofibromin 1
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NME1
|
NME/NM23 nucleoside diphosphate kinase 1
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NSMF
|
NMDA receptor synaptonuclear signaling and neuronal migration factor
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
NUBPL
|
nucleotide binding protein-like
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
PABPN1
|
poly(A) binding protein, nuclear 1
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PAX3
|
paired box 3
|
|
PAX6
|
paired box 6
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PDHA1
|
pyruvate dehydrogenase (lipoamide) alpha 1
|
|
PEPD
|
peptidase D
|
|
PET100
|
PET100 homolog (S. cerevisiae)
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX10
|
peroxisomal biogenesis factor 10
|
|
PEX11B
|
peroxisomal biogenesis factor 11 beta
|
|
PEX12
|
peroxisomal biogenesis factor 12
|
|
PEX13
|
peroxisomal biogenesis factor 13
|
|
PEX14
|
peroxisomal biogenesis factor 14
|
|
PEX16
|
peroxisomal biogenesis factor 16
|
|
PEX19
|
peroxisomal biogenesis factor 19
|
|
PEX2
|
peroxisomal biogenesis factor 2
|
|
PEX26
|
peroxisomal biogenesis factor 26
|
|
PEX3
|
peroxisomal biogenesis factor 3
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PEX6
|
peroxisomal biogenesis factor 6
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PHF6
|
PHD finger protein 6
|
|
PHOX2A
|
paired-like homeobox 2a
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIK3R2
|
phosphoinositide-3-kinase, regulatory subunit 2 (beta)
|
|
PLEC
|
plectin
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLG2
|
polymerase (DNA directed), gamma 2, accessory subunit
|
|
PREPL
|
prolyl endopeptidase-like
|
|
PROK2
|
prokineticin 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
RAB3GAP1
|
RAB3 GTPase activating protein subunit 1 (catalytic)
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAD51C
|
RAD51 paralog C
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RB1
|
retinoblastoma 1
|
|
RBCK1
|
RanBP-type and C3HC4-type zinc finger containing 1
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RIT1
|
Ras-like without CAAX 1
|
|
RNASEH2A
|
ribonuclease H2, subunit A
|
|
RNASEH2B
|
ribonuclease H2, subunit B
|
|
RNASEH2C
|
ribonuclease H2, subunit C
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SAMHD1
|
SAM domain and HD domain 1
|
|
SC5D
|
sterol-C5-desaturase
|
|
SEMA3A
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SEPN1
|
selenoprotein N, 1
|
|
SEPT9
|
septin 9
|
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SKI
|
SKI proto-oncogene
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC19A3
|
solute carrier family 19 (thiamine transporter), member 3
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
SLC3A1
|
solute carrier family 3 (amino acid transporter heavy chain), member 1
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SLCO2A1
|
solute carrier organic anion transporter family, member 2A1
|
|
SLCO5A1
|
solute carrier organic anion transporter family, member 5A1
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCA4
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SMARCE1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SNAI2
|
snail family zinc finger 2
|
|
SOS1
|
son of sevenless homolog 1 (Drosophila)
|
|
SOST
|
sclerostin
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
SPRED1
|
sprouty-related, EVH1 domain containing 1
|
|
SPRY4
|
sprouty homolog 4 (Drosophila)
|
|
STAC3
|
SH3 and cysteine rich domain 3
|
|
STAMBP
|
STAM binding protein
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
SULF1
|
sulfatase 1
|
|
SZT2
|
seizure threshold 2 homolog (mouse)
|
|
TACO1
|
translational activator of mitochondrially encoded cytochrome c oxidase I
|
|
TACR3
|
tachykinin receptor 3
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TBX1
|
T-box 1
|
|
TCF12
|
transcription factor 12
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TCTN1
|
tectonic family member 1
|
|
TCTN2
|
tectonic family member 2
|
|
TCTN3
|
tectonic family member 3
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TFAP2B
|
transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
|
|
TGIF1
|
TGFB-induced factor homeobox 1
|
|
TH
|
tyrosine hydroxylase
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TMEM138
|
transmembrane protein 138
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM67
|
transmembrane protein 67
|
|
TNXB
|
tenascin XB
|
|
TP63
|
tumor protein p63
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TPM3
|
tropomyosin 3
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TTN
|
titin
|
|
TUBB3
|
tubulin, beta 3 class III
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
TYMP
|
thymidine phosphorylase
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
|
UBE3B
|
ubiquitin protein ligase E3B
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
VAMP1
|
vesicle-associated membrane protein 1 (synaptobrevin 1)
|
|
VARS2
|
valyl-tRNA synthetase 2, mitochondrial
|
|
WDR11
|
WD repeat domain 11
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
WT1
|
Wilms tumor 1
|
|
YAP1
|
Yes-associated protein 1
|
|
YARS2
|
tyrosyl-tRNA synthetase 2, mitochondrial
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
|
ZFHX4
|
zinc finger homeobox 4
|
|
ZNF423
|
zinc finger protein 423
|
|
ZSWIM6
|
zinc finger, SWIM-type containing 6
|
