| Symbol |
Name |
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ACTB
|
actin, beta
|
|
ACTG1
|
actin gamma 1
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
ADSL
|
adenylosuccinate lyase
|
|
AGA
|
aspartylglucosaminidase
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
AP4E1
|
adaptor-related protein complex 4, epsilon 1 subunit
|
|
AP4S1
|
adaptor-related protein complex 4, sigma 1 subunit
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ATIC
|
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
|
|
ATP10A
|
ATPase, class V, type 10A
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CD96
|
CD96 molecule
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
CYFIP1
|
cytoplasmic FMR1 interacting protein 1
|
|
DDX11
|
DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
ELN
|
elastin
|
|
EPHX1
|
epoxide hydrolase 1, microsomal (xenobiotic)
|
|
FAM20C
|
family with sequence similarity 20, member C
|
|
GALNS
|
galactosamine (N-acetyl)-6-sulfatase
|
|
GLB1
|
galactosidase, beta 1
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HDAC6
|
histone deacetylase 6
|
|
IDUA
|
iduronidase, alpha-L-
|
|
INSR
|
insulin receptor
|
|
IRX5
|
iroquois homeobox 5
|
|
KCNJ8
|
potassium channel, inwardly rectifying subfamily J, member 8
|
|
LARP7
|
La ribonucleoprotein domain family, member 7
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LIMK1
|
LIM domain kinase 1
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MGAT2
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
|
|
MKS1
|
Meckel syndrome, type 1
|
|
NALCN
|
sodium leak channel, non selective
|
|
NRXN1
|
neurexin 1
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
OCA2
|
oculocutaneous albinism II
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
POLR1C
|
polymerase (RNA) I polypeptide C, 30kDa
|
|
POLR1D
|
polymerase (RNA) I polypeptide D, 16kDa
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
RAB40AL
|
RAB40A, member RAS oncogene family-like
|
|
RAI1
|
retinoic acid induced 1
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SEC23A
|
Sec23 homolog A (S. cerevisiae)
|
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
|
SH3PXD2B
|
SH3 and PX domains 2B
|
|
SMARCA2
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
|
|
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
|
|
SNIP1
|
Smad nuclear interacting protein 1
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
STRADA
|
STE20-related kinase adaptor alpha
|
|
TBL2
|
transducin (beta)-like 2
|
|
TCF4
|
transcription factor 4
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TMEM67
|
transmembrane protein 67
|
|
TMEM70
|
transmembrane protein 70
|
|
TTC37
|
tetratricopeptide repeat domain 37
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UBE3B
|
ubiquitin protein ligase E3B
|
