| Symbol |
Name |
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ACSL4
|
acyl-CoA synthetase long-chain family member 4
|
|
ACTB
|
actin, beta
|
|
ADAMTS10
|
ADAM metallopeptidase with thrombospondin type 1 motif, 10
|
|
AGGF1
|
angiogenic factor with G patch and FHA domains 1
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
AMMECR1
|
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
|
|
ANK1
|
ankyrin 1, erythrocytic
|
|
ANKS6
|
ankyrin repeat and sterile alpha motif domain containing 6
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ARX
|
aristaless related homeobox
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCOR
|
BCL6 corepressor
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
CD96
|
CD96 molecule
|
|
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
|
|
CREBBP
|
CREB binding protein
|
|
CTCF
|
CCCTC-binding factor (zinc finger protein)
|
|
DHCR24
|
24-dehydrocholesterol reductase
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DPM1
|
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
|
|
DTNA
|
dystrobrevin, alpha
|
|
ECE1
|
endothelin converting enzyme 1
|
|
ELN
|
elastin
|
|
EOGT
|
EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCB
|
Fanconi anemia, complementation group B
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FANCF
|
Fanconi anemia, complementation group F
|
|
FANCG
|
Fanconi anemia, complementation group G
|
|
FANCI
|
Fanconi anemia, complementation group I
|
|
FANCL
|
Fanconi anemia, complementation group L
|
|
FANCM
|
Fanconi anemia, complementation group M
|
|
FBN1
|
fibrillin 1
|
|
FBN2
|
fibrillin 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FLNA
|
filamin A, alpha
|
|
FOXC1
|
forkhead box C1
|
|
FOXC2
|
forkhead box C2
|
|
FOXF1
|
forkhead box F1
|
|
FTO
|
fat mass and obesity associated
|
|
G6PC3
|
glucose 6 phosphatase, catalytic, 3
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GATA4
|
GATA binding protein 4
|
|
GATA6
|
GATA binding protein 6
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GLI3
|
GLI family zinc finger 3
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GPC3
|
glypican 3
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HIRA
|
histone cell cycle regulator
|
|
HOXD13
|
homeobox D13
|
|
HPGD
|
hydroxyprostaglandin dehydrogenase 15-(NAD)
|
|
IGBP1
|
immunoglobulin (CD79A) binding protein 1
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNE5
|
potassium channel, voltage gated subfamily E regulatory beta subunit 5
|
|
KCNJ8
|
potassium channel, inwardly rectifying subfamily J, member 8
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMNA
|
lamin A/C
|
|
MEGF8
|
multiple EGF-like-domains 8
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MRPS16
|
mitochondrial ribosomal protein S16
|
|
MYCN
|
v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
|
|
MYH11
|
myosin, heavy chain 11, smooth muscle
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NOTCH2
|
notch 2
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PCNT
|
pericentrin
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PIGN
|
phosphatidylinositol glycan anchor biosynthesis, class N
|
|
PIGT
|
phosphatidylinositol glycan anchor biosynthesis, class T
|
|
POLR1C
|
polymerase (RNA) I polypeptide C, 30kDa
|
|
POLR1D
|
polymerase (RNA) I polypeptide D, 16kDa
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PRDM16
|
PR domain containing 16
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RAB23
|
RAB23, member RAS oncogene family
|
|
RAD51C
|
RAD51 paralog C
|
|
RBP4
|
retinol binding protein 4, plasma
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SKI
|
SKI proto-oncogene
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMAD3
|
SMAD family member 3
|
|
SMAD4
|
SMAD family member 4
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
STRA6
|
stimulated by retinoic acid 6
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TBX2
|
T-box 2
|
|
TBX4
|
T-box 4
|
|
TBX5
|
T-box 5
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TFAP2B
|
transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
THOC6
|
THO complex 6
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TP63
|
tumor protein p63
|
|
TSFM
|
Ts translation elongation factor, mitochondrial
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
UMPS
|
uridine monophosphate synthetase
|
|
WT1
|
Wilms tumor 1
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
|
ZIC3
|
Zic family member 3
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
