| Symbol |
Name |
|
A2ML1
|
alpha-2-macroglobulin-like 1
|
|
ABAT
|
4-aminobutyrate aminotransferase
|
|
ABCD3
|
ATP-binding cassette, sub-family D (ALD), member 3
|
|
ACSL4
|
acyl-CoA synthetase long-chain family member 4
|
|
ACTB
|
actin, beta
|
|
ACTG1
|
actin gamma 1
|
|
ADAMTS2
|
ADAM metallopeptidase with thrombospondin type 1 motif, 2
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
ADNP
|
activity-dependent neuroprotector homeobox
|
|
AHDC1
|
AT hook, DNA binding motif, containing 1
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALX4
|
ALX homeobox 4
|
|
AMMECR1
|
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
|
|
ANK1
|
ankyrin 1, erythrocytic
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
AP1S1
|
adaptor-related protein complex 1, sigma 1 subunit
|
|
AP3B1
|
adaptor-related protein complex 3, beta 1 subunit
|
|
AP4E1
|
adaptor-related protein complex 4, epsilon 1 subunit
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ASCL1
|
achaete-scute family bHLH transcription factor 1
|
|
ASPH
|
aspartate beta-hydroxylase
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATR
|
ATR serine/threonine kinase
|
|
ATRIP
|
ATR interacting protein
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B3GAT3
|
beta-1,3-glucuronyltransferase 3
|
|
BBIP1
|
BBSome interacting protein 1
|
|
BBS1
|
Bardet-Biedl syndrome 1
|
|
BBS10
|
Bardet-Biedl syndrome 10
|
|
BBS12
|
Bardet-Biedl syndrome 12
|
|
BBS2
|
Bardet-Biedl syndrome 2
|
|
BBS4
|
Bardet-Biedl syndrome 4
|
|
BBS5
|
Bardet-Biedl syndrome 5
|
|
BBS7
|
Bardet-Biedl syndrome 7
|
|
BBS9
|
Bardet-Biedl syndrome 9
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BMP2
|
bone morphogenetic protein 2
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BUB1
|
BUB1 mitotic checkpoint serine/threonine kinase
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
BUB3
|
BUB3 mitotic checkpoint protein
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
C2CD3
|
C2 calcium-dependent domain containing 3
|
|
CCDC22
|
coiled-coil domain containing 22
|
|
CD96
|
CD96 molecule
|
|
CENPJ
|
centromere protein J
|
|
CEP152
|
centrosomal protein 152kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRNA7
|
cholinergic receptor, nicotinic, alpha 7 (neuronal)
|
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COLEC11
|
collectin sub-family member 11
|
|
COMT
|
catechol-O-methyltransferase
|
|
CREBBP
|
CREB binding protein
|
|
CTNND2
|
catenin (cadherin-associated protein), delta 2
|
|
DHCR24
|
24-dehydrocholesterol reductase
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DHODH
|
dihydroorotate dehydrogenase (quinone)
|
|
DLG3
|
discs, large homolog 3 (Drosophila)
|
|
DPM1
|
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
|
|
DSE
|
dermatan sulfate epimerase
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
EDN3
|
endothelin 3
|
|
EFEMP2
|
EGF containing fibulin-like extracellular matrix protein 2
|
|
EFNB1
|
ephrin-B1
|
|
EFTUD2
|
elongation factor Tu GTP binding domain containing 2
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FAM20C
|
family with sequence similarity 20, member C
|
|
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
|
|
FBXL4
|
F-box and leucine-rich repeat protein 4
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGF3
|
fibroblast growth factor 3
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FLNA
|
filamin A, alpha
|
|
FOXG1
|
forkhead box G1
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GDNF
|
glial cell derived neurotrophic factor
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GLI3
|
GLI family zinc finger 3
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GSC
|
goosecoid homeobox
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HBB
|
hemoglobin, beta
|
|
HDAC4
|
histone deacetylase 4
|
|
HIRA
|
histone cell cycle regulator
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
IFT27
|
intraflagellar transport 27
|
|
IGBP1
|
immunoglobulin (CD79A) binding protein 1
|
|
IL1RAPL1
|
interleukin 1 receptor accessory protein-like 1
|
|
JAG1
|
jagged 1
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KCNE5
|
potassium channel, voltage gated subfamily E regulatory beta subunit 5
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KIAA0196
|
KIAA0196
|
|
KIF11
|
kinesin family member 11
|
|
KIF1BP
|
KIF1 binding protein
|
|
KIF7
|
kinesin family member 7
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
KPTN
|
kaptin (actin binding protein)
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
|
LRP4
|
low density lipoprotein receptor-related protein 4
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAN1B1
|
mannosidase, alpha, class 1B, member 1
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MCPH1
|
microcephalin 1
|
|
MED12
|
mediator complex subunit 12
|
|
MEF2C
|
myocyte enhancer factor 2C
|
|
MEGF8
|
multiple EGF-like-domains 8
|
|
MGAT2
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MPST
|
mercaptopyruvate sulfurtransferase
|
|
MVK
|
mevalonate kinase
|
|
MYCN
|
v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NBN
|
nibrin
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NELFA
|
negative elongation factor complex member A
|
|
NF1
|
neurofibromin 1
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NOTCH2
|
notch 2
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PAX3
|
paired box 3
|
|
PCNT
|
pericentrin
|
|
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
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PGAP3
|
post-GPI attachment to proteins 3
|
|
PHOX2B
|
paired-like homeobox 2b
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIGV
|
phosphatidylinositol glycan anchor biosynthesis, class V
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
POLR1C
|
polymerase (RNA) I polypeptide C, 30kDa
|
|
POLR1D
|
polymerase (RNA) I polypeptide D, 16kDa
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PRRX1
|
paired related homeobox 1
|
|
PTCH1
|
patched 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PVRL1
|
poliovirus receptor-related 1 (herpesvirus entry mediator C)
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAD51C
|
RAD51 paralog C
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RAI1
|
retinoic acid induced 1
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RBBP8
|
retinoblastoma binding protein 8
|
|
RECQL4
|
RecQ protein-like 4
|
|
RET
|
ret proto-oncogene
|
|
RIN2
|
Ras and Rab interactor 2
|
|
RIT1
|
Ras-like without CAAX 1
|
|
RNF135
|
ring finger protein 135
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPS19
|
ribosomal protein S19
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
SATB2
|
SATB homeobox 2
|
|
SC5D
|
sterol-C5-desaturase
|
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SEMA5A
|
sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
|
|
SEPT9
|
septin 9
|
|
SETD5
|
SET domain containing 5
|
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
|
SH3PXD2B
|
SH3 and PX domains 2B
|
|
SKI
|
SKI proto-oncogene
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC2A10
|
solute carrier family 2 (facilitated glucose transporter), member 10
|
|
SLC39A13
|
solute carrier family 39 (zinc transporter), member 13
|
|
SLCO5A1
|
solute carrier organic anion transporter family, member 5A1
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMARCA2
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOS1
|
son of sevenless homolog 1 (Drosophila)
|
|
SPRED1
|
sprouty-related, EVH1 domain containing 1
|
|
STAC3
|
SH3 and cysteine rich domain 3
|
|
SULF1
|
sulfatase 1
|
|
SZT2
|
seizure threshold 2 homolog (mouse)
|
|
TBX1
|
T-box 1
|
|
TBX6
|
T-box 6
|
|
TCF4
|
transcription factor 4
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TFAP2B
|
transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
|
|
TGFB2
|
transforming growth factor, beta 2
|
|
THOC6
|
THO complex 6
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TMEM237
|
transmembrane protein 237
|
|
TNNI2
|
troponin I type 2 (skeletal, fast)
|
|
TNNT3
|
troponin T type 3 (skeletal, fast)
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TRIM32
|
tripartite motif containing 32
|
|
TTC37
|
tetratricopeptide repeat domain 37
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TWIST2
|
twist family bHLH transcription factor 2
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
UBE3B
|
ubiquitin protein ligase E3B
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
UMPS
|
uridine monophosphate synthetase
|
|
UQCC2
|
ubiquinol-cytochrome c reductase complex assembly factor 2
|
|
VIPAS39
|
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
VPS33B
|
vacuolar protein sorting 33 homolog B (yeast)
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
YWHAE
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
|
ZIC2
|
Zic family member 2
|
