| Symbol |
Name |
|
ACTG2
|
actin, gamma 2, smooth muscle, enteric
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
AQP2
|
aquaporin 2 (collecting duct)
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ASCL1
|
achaete-scute family bHLH transcription factor 1
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
AVPR2
|
arginine vasopressin receptor 2
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BIRC3
|
baculoviral IAP repeat containing 3
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA1
|
breast cancer 1, early onset
|
|
CASR
|
calcium-sensing receptor
|
|
CD96
|
CD96 molecule
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CHRM3
|
cholinergic receptor, muscarinic 3
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
COMT
|
catechol-O-methyltransferase
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CPOX
|
coproporphyrinogen oxidase
|
|
CREBBP
|
CREB binding protein
|
|
DDC
|
dopa decarboxylase (aromatic L-amino acid decarboxylase)
|
|
DDHD2
|
DDHD domain containing 2
|
|
DDOST
|
dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
|
|
DES
|
desmin
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DUOX2
|
dual oxidase 2
|
|
DUOXA2
|
dual oxidase maturation factor 2
|
|
ECE1
|
endothelin converting enzyme 1
|
|
EDN3
|
endothelin 3
|
|
EDNRB
|
endothelin receptor type B
|
|
ELN
|
elastin
|
|
EPCAM
|
epithelial cell adhesion molecule
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FLNA
|
filamin A, alpha
|
|
FOXE1
|
forkhead box E1
|
|
FOXG1
|
forkhead box G1
|
|
FOXP1
|
forkhead box P1
|
|
FTL
|
ferritin, light polypeptide
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GDNF
|
glial cell derived neurotrophic factor
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HESX1
|
HESX homeobox 1
|
|
HIRA
|
histone cell cycle regulator
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
HPSE2
|
heparanase 2 (inactive)
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
IKBKAP
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
|
IYD
|
iodotyrosine deiodinase
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNJ1
|
potassium channel, inwardly rectifying subfamily J, member 1
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT14
|
keratin 14, type I
|
|
KRT5
|
keratin 5, type II
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
LHX3
|
LIM homeobox 3
|
|
LHX4
|
LIM homeobox 4
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMNB1
|
lamin B1
|
|
LRIG2
|
leucine-rich repeats and immunoglobulin-like domains 2
|
|
LRRFIP2
|
leucine rich repeat (in FLII) interacting protein 2
|
|
MAGEL2
|
melanoma antigen family L2
|
|
MALT1
|
MALT1 paracaspase
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MEFV
|
Mediterranean fever
|
|
MLH1
|
mutL homolog 1
|
|
MLH3
|
mutL homolog 3
|
|
MLYCD
|
malonyl-CoA decarboxylase
|
|
MMP1
|
matrix metallopeptidase 1
|
|
MNX1
|
motor neuron and pancreas homeobox 1
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
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-TK
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
NALCN
|
sodium leak channel, non selective
|
|
ND1
|
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NRTN
|
neurturin
|
|
NRXN1
|
neurexin 1
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OTX2
|
orthodenticle homeobox 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
|
|
PHOX2B
|
paired-like homeobox 2b
|
|
PIGV
|
phosphatidylinositol glycan anchor biosynthesis, class V
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PMS1
|
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLG2
|
polymerase (DNA directed), gamma 2, accessory subunit
|
|
POU1F1
|
POU class 1 homeobox 1
|
|
PPOX
|
protoporphyrinogen oxidase
|
|
PRDM16
|
PR domain containing 16
|
|
PRNP
|
prion protein
|
|
PROKR2
|
prokineticin receptor 2
|
|
PROP1
|
PROP paired-like homeobox 1
|
|
PTRF
|
polymerase I and transcript release factor
|
|
RAI1
|
retinoic acid induced 1
|
|
RET
|
ret proto-oncogene
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SCN10A
|
sodium channel, voltage gated, type X alpha subunit
|
|
SCN11A
|
sodium channel, voltage gated, type XI alpha subunit
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SCNN1B
|
sodium channel, non voltage gated 1 beta subunit
|
|
SCNN1G
|
sodium channel, non voltage gated 1 gamma subunit
|
|
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
|
|
SIX3
|
SIX homeobox 3
|
|
SKI
|
SKI proto-oncogene
|
|
SLC12A1
|
solute carrier family 12 (sodium/potassium/chloride transporter), member 1
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC5A5
|
solute carrier family 5 (sodium/iodide cotransporter), member 5
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TCF4
|
transcription factor 4
|
|
TG
|
thyroglobulin
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
THRA
|
thyroid hormone receptor, alpha
|
|
THRB
|
thyroid hormone receptor, beta
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
TNXB
|
tenascin XB
|
|
TPO
|
thyroid peroxidase
|
|
TRH
|
thyrotropin-releasing hormone
|
|
TRHR
|
thyrotropin-releasing hormone receptor
|
|
TRNE
|
|
|
TSHB
|
thyroid stimulating hormone, beta
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TTR
|
transthyretin
|
|
TYMP
|
thymidine phosphorylase
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UBE3B
|
ubiquitin protein ligase E3B
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
VANGL1
|
VANGL planar cell polarity protein 1
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
