| Symbol |
Name |
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ACTB
|
actin, beta
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
AGA
|
aspartylglucosaminidase
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
ARSB
|
arylsulfatase B
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ATP10A
|
ATPase, class V, type 10A
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
B9D1
|
B9 protein domain 1
|
|
B9D2
|
B9 protein domain 2
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCR
|
breakpoint cluster region
|
|
BMP4
|
bone morphogenetic protein 4
|
|
C2CD3
|
C2 calcium-dependent domain containing 3
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CHUK
|
conserved helix-loop-helix ubiquitous kinase
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
CUL4B
|
cullin 4B
|
|
CYFIP1
|
cytoplasmic FMR1 interacting protein 1
|
|
DDX59
|
DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DNMT3B
|
DNA (cytosine-5-)-methyltransferase 3 beta
|
|
DUOX2
|
dual oxidase 2
|
|
DUOXA2
|
dual oxidase maturation factor 2
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
ECM1
|
extracellular matrix protein 1
|
|
EDN1
|
endothelin 1
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
EIF4A3
|
eukaryotic translation initiation factor 4A3
|
|
ELN
|
elastin
|
|
ENG
|
endoglin
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FAM20C
|
family with sequence similarity 20, member C
|
|
FERMT1
|
fermitin family member 1
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FKRP
|
fukutin related protein
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FLNA
|
filamin A, alpha
|
|
FOXE1
|
forkhead box E1
|
|
FOXG1
|
forkhead box G1
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
FTO
|
fat mass and obesity associated
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
GAA
|
glucosidase, alpha; acid
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GLI3
|
GLI family zinc finger 3
|
|
GNAI3
|
guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
HEXB
|
hexosaminidase B (beta polypeptide)
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
IDS
|
iduronate 2-sulfatase
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IKBKAP
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
|
IL36RN
|
interleukin 36 receptor antagonist
|
|
IMPAD1
|
inositol monophosphatase domain containing 1
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
IYD
|
iodotyrosine deiodinase
|
|
KCNQ1OT1
|
KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KIF7
|
kinesin family member 7
|
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
|
LARGE
|
like-glycosyltransferase
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMBRD1
|
LMBR1 domain containing 1
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MGAT2
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MMP1
|
matrix metallopeptidase 1
|
|
NEK1
|
NIMA-related kinase 1
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NOP56
|
NOP56 ribonucleoprotein
|
|
NRXN1
|
neurexin 1
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
OCA2
|
oculocutaneous albinism II
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OPTN
|
optineurin
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PAX8
|
paired box 8
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
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
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PKP1
|
plakophilin 1
|
|
PLCB4
|
phospholipase C, beta 4
|
|
POLR1C
|
polymerase (RNA) I polypeptide C, 30kDa
|
|
POLR1D
|
polymerase (RNA) I polypeptide D, 16kDa
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
POU1F1
|
POU class 1 homeobox 1
|
|
PRRX1
|
paired related homeobox 1
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
RAB3GAP1
|
RAB3 GTPase activating protein subunit 1 (catalytic)
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAI1
|
retinoic acid induced 1
|
|
RBBP8
|
retinoblastoma binding protein 8
|
|
RBM10
|
RNA binding motif protein 10
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RMND1
|
required for meiotic nuclear division 1 homolog (S. cerevisiae)
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
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
|
|
SETBP1
|
SET binding protein 1
|
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC39A4
|
solute carrier family 39 (zinc transporter), member 4
|
|
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
|
|
SLC5A5
|
solute carrier family 5 (sodium/iodide cotransporter), member 5
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SNIP1
|
Smad nuclear interacting protein 1
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX15
|
T-box 15
|
|
TBX22
|
T-box 22
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TCTN2
|
tectonic family member 2
|
|
TCTN3
|
tectonic family member 3
|
|
TG
|
thyroglobulin
|
|
THRA
|
thyroid hormone receptor, alpha
|
|
THRB
|
thyroid hormone receptor, beta
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM67
|
transmembrane protein 67
|
|
TPO
|
thyroid peroxidase
|
|
TRAF3IP2
|
TRAF3 interacting protein 2
|
|
TRHR
|
thyrotropin-releasing hormone receptor
|
|
TRIM37
|
tripartite motif containing 37
|
|
TSHB
|
thyroid stimulating hormone, beta
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TSPYL1
|
TSPY-like 1
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WNK1
|
WNK lysine deficient protein kinase 1
|
|
WNT10A
|
wingless-type MMTV integration site family, member 10A
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
ZBTB24
|
zinc finger and BTB domain containing 24
|
