| Symbol |
Name |
|
AGA
|
aspartylglucosaminidase
|
|
ARSB
|
arylsulfatase B
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CUL4B
|
cullin 4B
|
|
DNMT3B
|
DNA (cytosine-5-)-methyltransferase 3 beta
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
FKRP
|
fukutin related protein
|
|
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)
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GPC3
|
glypican 3
|
|
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
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
KCNQ1OT1
|
KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
|
|
LARGE
|
like-glycosyltransferase
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MECP2
|
methyl CpG binding protein 2
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
PAX8
|
paired box 8
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
POU1F1
|
POU class 1 homeobox 1
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
SETBP1
|
SET binding protein 1
|
|
SLC5A5
|
solute carrier family 5 (sodium/iodide cotransporter), member 5
|
|
SNIP1
|
Smad nuclear interacting protein 1
|
|
THRA
|
thyroid hormone receptor, alpha
|
|
TRAF3IP2
|
TRAF3 interacting protein 2
|
|
TSHB
|
thyroid stimulating hormone, beta
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
