| Symbol |
Name |
|
AARS
|
alanyl-tRNA synthetase
|
|
ABCB1
|
ATP-binding cassette, sub-family B (MDR/TAP), member 1
|
|
ACAD9
|
acyl-CoA dehydrogenase family, member 9
|
|
ACADSB
|
acyl-CoA dehydrogenase, short/branched chain
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ADRB1
|
adrenoceptor beta 1
|
|
AGER
|
advanced glycosylation end product-specific receptor
|
|
AIF1
|
allograft inflammatory factor 1
|
|
AKR1B15
|
aldo-keto reductase family 1, member B15
|
|
AKR1D1
|
aldo-keto reductase family 1, member D1
|
|
ALB
|
albumin
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
ANGPT1
|
angiopoietin 1
|
|
ANKH
|
ANKH inorganic pyrophosphate transport regulator
|
|
ANTXR2
|
anthrax toxin receptor 2
|
|
ARF6
|
ADP-ribosylation factor 6
|
|
ARSA
|
arylsulfatase A
|
|
ARX
|
aristaless related homeobox
|
|
ATL1
|
atlastin GTPase 1
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
ATPIF1
|
ATPase inhibitory factor 1
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
BMPR2
|
bone morphogenetic protein receptor, type II (serine/threonine kinase)
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CEACAM1
|
carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)
|
|
CEP83
|
centrosomal protein 83kDa
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLDN3
|
claudin 3
|
|
CLDN4
|
claudin 4
|
|
CLIC4
|
chloride intracellular channel 4
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CLN5
|
ceroid-lipofuscinosis, neuronal 5
|
|
CLN6
|
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
|
|
COA6
|
cytochrome c oxidase assembly factor 6
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
COX6B1
|
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CSF1
|
colony stimulating factor 1 (macrophage)
|
|
CTSA
|
cathepsin A
|
|
CXCL14
|
chemokine (C-X-C motif) ligand 14
|
|
CYP1B1
|
cytochrome P450, family 1, subfamily B, polypeptide 1
|
|
CYP24A1
|
cytochrome P450, family 24, subfamily A, polypeptide 1
|
|
EARS2
|
glutamyl-tRNA synthetase 2, mitochondrial
|
|
ENPP1
|
ectonucleotide pyrophosphatase/phosphodiesterase 1
|
|
FAM20C
|
family with sequence similarity 20, member C
|
|
FAS
|
Fas cell surface death receptor
|
|
FASLG
|
Fas ligand (TNF superfamily, member 6)
|
|
FHL1
|
four and a half LIM domains 1
|
|
FOXG1
|
forkhead box G1
|
|
FRMD7
|
FERM domain containing 7
|
|
GAA
|
glucosidase, alpha; acid
|
|
GFAP
|
glial fibrillary acidic protein
|
|
GFER
|
growth factor, augmenter of liver regeneration
|
|
GGT1
|
gamma-glutamyltransferase 1
|
|
GLB1
|
galactosidase, beta 1
|
|
GLDC
|
glycine dehydrogenase (decarboxylating)
|
|
GPT2
|
glutamic pyruvate transaminase (alanine aminotransferase) 2
|
|
HEXA
|
hexosaminidase A (alpha polypeptide)
|
|
HOXA1
|
homeobox A1
|
|
HSD11B1
|
hydroxysteroid (11-beta) dehydrogenase 1
|
|
HSD11B2
|
hydroxysteroid (11-beta) dehydrogenase 2
|
|
HTT
|
huntingtin
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IGF2
|
insulin-like growth factor 2
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
IL10
|
interleukin 10
|
|
IL10RA
|
interleukin 10 receptor, alpha
|
|
IL10RB
|
interleukin 10 receptor, beta
|
|
IL6
|
interleukin 6
|
|
INVS
|
inversin
|
|
JAG1
|
jagged 1
|
|
KCNH2
|
potassium channel, voltage gated eag related subfamily H, member 2
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KCNQ2
|
potassium channel, voltage gated KQT-like subfamily Q, member 2
|
|
KCNQ3
|
potassium channel, voltage gated KQT-like subfamily Q, member 3
|
|
LARS
|
leucyl-tRNA synthetase
|
|
LGI4
|
leucine-rich repeat LGI family, member 4
|
|
LMO2
|
LIM domain only 2 (rhombotin-like 1)
|
|
LYRM4
|
LYR motif containing 4
|
|
LYVE1
|
lymphatic vessel endothelial hyaluronan receptor 1
|
|
MAGI2
|
membrane associated guanylate kinase, WW and PDZ domain containing 2
|
|
MAPK13
|
mitogen-activated protein kinase 13
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MBL2
|
mannose-binding lectin (protein C) 2, soluble
|
|
MBNL1
|
muscleblind-like splicing regulator 1
|
|
MC2R
|
melanocortin 2 receptor (adrenocorticotropic hormone)
|
|
MC4R
|
melanocortin 4 receptor
|
|
MED17
|
mediator complex subunit 17
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MMP9
|
matrix metallopeptidase 9
|
|
MNX1
|
motor neuron and pancreas homeobox 1
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
MPZ
|
myelin protein zero
|
|
MRI1
|
methylthioribose-1-phosphate isomerase 1
|
|
MT-ND3
|
NADH dehydrogenase, subunit 3 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MTCH1
|
mitochondrial carrier 1
|
|
MTHFD1L
|
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
|
|
MYBPC3
|
myosin binding protein C, cardiac
|
|
NANOG
|
Nanog homeobox
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NDUFAF4
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
|
|
NECAP1
|
NECAP endocytosis associated 1
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NOS1
|
nitric oxide synthase 1 (neuronal)
|
|
NOTCH1
|
notch 1
|
|
NOTCH2
|
notch 2
|
|
NOTCH3
|
notch 3
|
|
NOTCH4
|
notch 4
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NPC2
|
Niemann-Pick disease, type C2
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NR1H4
|
nuclear receptor subfamily 1, group H, member 4
|
|
NR3C1
|
nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
|
|
NRXN1
|
neurexin 1
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
OSTM1
|
osteopetrosis associated transmembrane protein 1
|
|
PAX6
|
paired box 6
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PEX12
|
peroxisomal biogenesis factor 12
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLCB1
|
phospholipase C, beta 1 (phosphoinositide-specific)
|
|
PNPO
|
pyridoxamine 5'-phosphate oxidase
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PPARA
|
peroxisome proliferator-activated receptor alpha
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PROX1
|
prospero homeobox 1
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
PRX
|
periaxin
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPRG
|
protein tyrosine phosphatase, receptor type, G
|
|
RB1
|
retinoblastoma 1
|
|
RPS6KB1
|
ribosomal protein S6 kinase, 70kDa, polypeptide 1
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN2A
|
sodium channel, voltage gated, type II alpha subunit
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SCO2
|
SCO2 cytochrome c oxidase assembly protein
|
|
SELE
|
selectin E
|
|
SERAC1
|
serine active site containing 1
|
|
SKIV2L
|
superkiller viralicidic activity 2-like (S. cerevisiae)
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC34A1
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
|
|
SMAD3
|
SMAD family member 3
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SPTAN1
|
spectrin, alpha, non-erythrocytic 1
|
|
SPTBN2
|
spectrin, beta, non-erythrocytic 2
|
|
STXBP1
|
syntaxin binding protein 1
|
|
SZT2
|
seizure threshold 2 homolog (mouse)
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TH
|
tyrosine hydroxylase
|
|
TNF
|
tumor necrosis factor
|
|
TNFRSF11A
|
tumor necrosis factor receptor superfamily, member 11a, NFKB activator
|
|
TNFRSF11B
|
tumor necrosis factor receptor superfamily, member 11b
|
|
TNFSF10
|
tumor necrosis factor (ligand) superfamily, member 10
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TNK2
|
tyrosine kinase, non-receptor, 2
|
|
TNNC1
|
troponin C type 1 (slow)
|
|
TNNI3
|
troponin I type 3 (cardiac)
|
|
TNNT2
|
troponin T type 2 (cardiac)
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TPSAB1
|
tryptase alpha/beta 1
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
|
UCP1
|
uncoupling protein 1 (mitochondrial, proton carrier)
|
|
UQCC2
|
ubiquinol-cytochrome c reductase complex assembly factor 2
|
|
UQCR10
|
ubiquinol-cytochrome c reductase, complex III subunit X
|
|
WT1
|
Wilms tumor 1
|
|
YWHAG
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma
|
