| Symbol |
Name |
|
A2ML1
|
alpha-2-macroglobulin-like 1
|
|
ABCD3
|
ATP-binding cassette, sub-family D (ALD), member 3
|
|
ACADS
|
acyl-CoA dehydrogenase, C-2 to C-3 short chain
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ACTB
|
actin, beta
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
AQP2
|
aquaporin 2 (collecting duct)
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ARX
|
aristaless related homeobox
|
|
ASL
|
argininosuccinate lyase
|
|
ASPA
|
aspartoacylase
|
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
AVPR2
|
arginine vasopressin receptor 2
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
BCKDHA
|
branched chain keto acid dehydrogenase E1, alpha polypeptide
|
|
BCKDHB
|
branched chain keto acid dehydrogenase E1, beta polypeptide
|
|
BCOR
|
BCL6 corepressor
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BIN1
|
bridging integrator 1
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BTD
|
biotinidase
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
CARD9
|
caspase recruitment domain family, member 9
|
|
CASK
|
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
|
|
CASR
|
calcium-sensing receptor
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCR6
|
chemokine (C-C motif) receptor 6
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CHAT
|
choline O-acetyltransferase
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
|
CHRNE
|
cholinergic receptor, nicotinic, epsilon (muscle)
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CLCF1
|
cardiotrophin-like cytokine factor 1
|
|
CLDN16
|
claudin 16
|
|
CLEC7A
|
C-type lectin domain family 7, member A
|
|
CNTN1
|
contactin 1
|
|
COL1A1
|
collagen, type I, 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
|
|
COLQ
|
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
|
|
COMT
|
catechol-O-methyltransferase
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CPT1A
|
carnitine palmitoyltransferase 1A (liver)
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CREBBP
|
CREB binding protein
|
|
CRLF1
|
cytokine receptor-like factor 1
|
|
CTGF
|
connective tissue growth factor
|
|
CYP11B2
|
cytochrome P450, family 11, subfamily B, polypeptide 2
|
|
DBT
|
dihydrolipoamide branched chain transacylase E2
|
|
DDC
|
dopa decarboxylase (aromatic L-amino acid decarboxylase)
|
|
DGUOK
|
deoxyguanosine kinase
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DPYS
|
dihydropyrimidinase
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
ECM1
|
extracellular matrix protein 1
|
|
EFTUD2
|
elongation factor Tu GTP binding domain containing 2
|
|
ERLIN2
|
ER lipid raft associated 2
|
|
FERMT1
|
fermitin family member 1
|
|
FKRP
|
fukutin related protein
|
|
FLNA
|
filamin A, alpha
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FTL
|
ferritin, light polypeptide
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GCDH
|
glutaryl-CoA dehydrogenase
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
HADH
|
hydroxyacyl-CoA dehydrogenase
|
|
HBB
|
hemoglobin, beta
|
|
HDAC8
|
histone deacetylase 8
|
|
HIRA
|
histone cell cycle regulator
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HLCS
|
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HSPD1
|
heat shock 60kDa protein 1 (chaperonin)
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IDH1
|
isocitrate dehydrogenase 1 (NADP+), soluble
|
|
IDH2
|
isocitrate dehydrogenase 2 (NADP+), mitochondrial
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT172
|
intraflagellar transport 172
|
|
IFT80
|
intraflagellar transport 80
|
|
IKBKAP
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
|
IL17F
|
interleukin 17F
|
|
IL17RA
|
interleukin 17 receptor A
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
INSR
|
insulin receptor
|
|
IRF5
|
interferon regulatory factor 5
|
|
ITGB4
|
integrin, beta 4
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNK9
|
potassium channel, two pore domain subfamily K, member 9
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KIAA0319L
|
KIAA0319-like
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT14
|
keratin 14, type I
|
|
KRT5
|
keratin 5, type II
|
|
LAMA2
|
laminin, alpha 2
|
|
LBR
|
lamin B receptor
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LMBRD1
|
LMBR1 domain containing 1
|
|
LMNB1
|
lamin B1
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MCCC1
|
methylcrotonoyl-CoA carboxylase 1 (alpha)
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MMAA
|
methylmalonic aciduria (cobalamin deficiency) cblA type
|
|
MMAB
|
methylmalonic aciduria (cobalamin deficiency) cblB type
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
MMP1
|
matrix metallopeptidase 1
|
|
MOCS1
|
molybdenum cofactor synthesis 1
|
|
MOGS
|
mannosyl-oligosaccharide glucosidase
|
|
MRPS16
|
mitochondrial ribosomal protein S16
|
|
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
|
|
MTR
|
5-methyltetrahydrofolate-homocysteine methyltransferase
|
|
MUT
|
methylmalonyl CoA mutase
|
|
ND1
|
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
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
|
|
NF1
|
neurofibromin 1
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NUBPL
|
nucleotide binding protein-like
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
ORC1
|
origin recognition complex, subunit 1
|
|
PANK2
|
pantothenate kinase 2
|
|
PAX8
|
paired box 8
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PDGFRA
|
platelet-derived growth factor receptor, alpha polypeptide
|
|
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
|
|
PLEC
|
plectin
|
|
PMM2
|
phosphomannomutase 2
|
|
PNPO
|
pyridoxamine 5'-phosphate oxidase
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PRDM16
|
PR domain containing 16
|
|
PRKCSH
|
protein kinase C substrate 80K-H
|
|
PSAT1
|
phosphoserine aminotransferase 1
|
|
PTCH1
|
patched 1
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PTS
|
6-pyruvoyltetrahydropterin synthase
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RARS2
|
arginyl-tRNA synthetase 2, mitochondrial
|
|
RHBDF2
|
rhomboid 5 homolog 2 (Drosophila)
|
|
RIT1
|
Ras-like without CAAX 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SAMHD1
|
SAM domain and HD domain 1
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SCNN1A
|
sodium channel, non voltage gated 1 alpha subunit
|
|
SCNN1B
|
sodium channel, non voltage gated 1 beta subunit
|
|
SCNN1G
|
sodium channel, non voltage gated 1 gamma subunit
|
|
SCO2
|
SCO2 cytochrome c oxidase assembly protein
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SEC63
|
SEC63 homolog (S. cerevisiae)
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SH3BP2
|
SH3-domain binding protein 2
|
|
SKI
|
SKI proto-oncogene
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC46A1
|
solute carrier family 46 (folate transporter), member 1
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
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
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOS1
|
son of sevenless homolog 1 (Drosophila)
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
ST3GAL5
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
|
|
STAT1
|
signal transducer and activator of transcription 1, 91kDa
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
TBX1
|
T-box 1
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TMEM67
|
transmembrane protein 67
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TRAF3IP2
|
TRAF3 interacting protein 2
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRMU
|
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
|
|
TSEN54
|
TSEN54 tRNA splicing endonuclease subunit
|
|
TSFM
|
Ts translation elongation factor, mitochondrial
|
|
TSPYL1
|
TSPY-like 1
|
|
TTC21B
|
tetratricopeptide repeat domain 21B
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
VRK1
|
vaccinia related kinase 1
|
|
WDR19
|
WD repeat domain 19
|
|
WDR34
|
WD repeat domain 34
|
|
WDR60
|
WD repeat domain 60
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WNK1
|
WNK lysine deficient protein kinase 1
|
