| Symbol |
Name |
|
ACTG2
|
actin, gamma 2, smooth muscle, enteric
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ARNT2
|
aryl-hydrocarbon receptor nuclear translocator 2
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
AXIN1
|
axin 1
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCOR
|
BCL6 corepressor
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHRM3
|
cholinergic receptor, muscarinic 3
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL18A1
|
collagen, type XVIII, alpha 1
|
|
COMT
|
catechol-O-methyltransferase
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DLL3
|
delta-like 3 (Drosophila)
|
|
EFEMP2
|
EGF containing fibulin-like extracellular matrix protein 2
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
ELN
|
elastin
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
FAM58A
|
family with sequence similarity 58, member A
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FBLN5
|
fibulin 5
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FLNA
|
filamin A, alpha
|
|
FOXF1
|
forkhead box F1
|
|
FUZ
|
fuzzy planar cell polarity protein
|
|
GATA3
|
GATA binding protein 3
|
|
GATA6
|
GATA binding protein 6
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
HDAC8
|
histone deacetylase 8
|
|
HES7
|
hes family bHLH transcription factor 7
|
|
HIRA
|
histone cell cycle regulator
|
|
HLA-DPB1
|
major histocompatibility complex, class II, DP beta 1
|
|
HNF1B
|
HNF1 homeobox B
|
|
HOXA13
|
homeobox A13
|
|
HOXD13
|
homeobox D13
|
|
HPSE2
|
heparanase 2 (inactive)
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
ITGA6
|
integrin, alpha 6
|
|
ITGB4
|
integrin, beta 4
|
|
JAG1
|
jagged 1
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KCTD1
|
potassium channel tetramerization domain containing 1
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
LFNG
|
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
|
|
LHX1
|
LIM homeobox 1
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMNA
|
lamin A/C
|
|
LRIG2
|
leucine-rich repeats and immunoglobulin-like domains 2
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MCPH1
|
microcephalin 1
|
|
MESP2
|
mesoderm posterior basic helix-loop-helix transcription factor 2
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MNX1
|
motor neuron and pancreas homeobox 1
|
|
MPST
|
mercaptopyruvate sulfurtransferase
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
PAX2
|
paired box 2
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIGN
|
phosphatidylinositol glycan anchor biosynthesis, class N
|
|
PIGO
|
phosphatidylinositol glycan anchor biosynthesis, class O
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PRTN3
|
proteinase 3
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
PVRL1
|
poliovirus receptor-related 1 (herpesvirus entry mediator C)
|
|
RAB23
|
RAB23, member RAS oncogene family
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAI1
|
retinoic acid induced 1
|
|
RARB
|
retinoic acid receptor, beta
|
|
RECQL4
|
RecQ protein-like 4
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
ROBO2
|
roundabout, axon guidance receptor, homolog 2 (Drosophila)
|
|
RPL11
|
ribosomal protein L11
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SETBP1
|
SET binding protein 1
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SIX1
|
SIX homeobox 1
|
|
SIX5
|
SIX homeobox 5
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SOX17
|
SRY (sex determining region Y)-box 17
|
|
STAMBP
|
STAM binding protein
|
|
STK11
|
serine/threonine kinase 11
|
|
STRA6
|
stimulated by retinoic acid 6
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TNXB
|
tenascin XB
|
|
TP63
|
tumor protein p63
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
VANGL1
|
VANGL planar cell polarity protein 1
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
