| Symbol |
Name |
|
AARS
|
alanyl-tRNA synthetase
|
|
ABCA12
|
ATP-binding cassette, sub-family A (ABC1), member 12
|
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ACVR1
|
activin A receptor, type I
|
|
ADAMTS10
|
ADAM metallopeptidase with thrombospondin type 1 motif, 10
|
|
ADAMTS2
|
ADAM metallopeptidase with thrombospondin type 1 motif, 2
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
AHI1
|
Abelson helper integration site 1
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALG3
|
ALG3, alpha-1,3- mannosyltransferase
|
|
ALOX12B
|
arachidonate 12-lipoxygenase, 12R type
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARL13B
|
ADP-ribosylation factor-like 13B
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ARX
|
aristaless related homeobox
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATL3
|
atlastin GTPase 3
|
|
ATR
|
ATR serine/threonine kinase
|
|
ATRIP
|
ATR interacting protein
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B3GAT3
|
beta-1,3-glucuronyltransferase 3
|
|
B4GALT7
|
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
|
|
B9D1
|
B9 protein domain 1
|
|
B9D2
|
B9 protein domain 2
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
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
|
|
BCOR
|
BCL6 corepressor
|
|
BCR
|
breakpoint cluster region
|
|
BMP2
|
bone morphogenetic protein 2
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BMPER
|
BMP binding endothelial regulator
|
|
BMPR1B
|
bone morphogenetic protein receptor, type IB
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCR6
|
chemokine (C-C motif) receptor 6
|
|
CD96
|
CD96 molecule
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CENPJ
|
centromere protein J
|
|
CEP152
|
centrosomal protein 152kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CLCF1
|
cardiotrophin-like cytokine factor 1
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL5A1
|
collagen, type V, alpha 1
|
|
COL5A2
|
collagen, type V, alpha 2
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
COMP
|
cartilage oligomeric matrix protein
|
|
COMT
|
catechol-O-methyltransferase
|
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CREBBP
|
CREB binding protein
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
CTGF
|
connective tissue growth factor
|
|
CTSK
|
cathepsin K
|
|
CUL4B
|
cullin 4B
|
|
DCAF8
|
DDB1 and CUL4 associated factor 8
|
|
DDX11
|
DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
|
|
DDX59
|
DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
DOLK
|
dolichol kinase
|
|
DSP
|
desmoplakin
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
DYRK1A
|
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
EFNB1
|
ephrin-B1
|
|
EGR2
|
early growth response 2
|
|
EIF4A3
|
eukaryotic translation initiation factor 4A3
|
|
ELN
|
elastin
|
|
EOGT
|
EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
|
|
EP300
|
E1A binding protein p300
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 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
|
|
FAM58A
|
family with sequence similarity 58, member A
|
|
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
|
|
FBLN1
|
fibulin 1
|
|
FBN1
|
fibrillin 1
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGF10
|
fibroblast growth factor 10
|
|
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
|
|
FLNB
|
filamin B, beta
|
|
FNBP4
|
formin binding protein 4
|
|
FOXG1
|
forkhead box G1
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GARS
|
glycyl-tRNA synthetase
|
|
GATA4
|
GATA binding protein 4
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GDF5
|
growth differentiation factor 5
|
|
GHR
|
growth hormone receptor
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GLI3
|
GLI family zinc finger 3
|
|
GNAS
|
GNAS complex locus
|
|
GNB4
|
guanine nucleotide binding protein (G protein), beta polypeptide 4
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC6
|
histone deacetylase 6
|
|
HDAC8
|
histone deacetylase 8
|
|
HERC2
|
HECT and RLD domain containing E3 ubiquitin protein ligase 2
|
|
HIRA
|
histone cell cycle regulator
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HOXA13
|
homeobox A13
|
|
HOXD13
|
homeobox D13
|
|
HPGD
|
hydroxyprostaglandin dehydrogenase 15-(NAD)
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
HSPB8
|
heat shock 22kDa protein 8
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
ICK
|
intestinal cell (MAK-like) kinase
|
|
IFT122
|
intraflagellar transport 122
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT172
|
intraflagellar transport 172
|
|
IFT27
|
intraflagellar transport 27
|
|
IFT80
|
intraflagellar transport 80
|
|
IHH
|
indian hedgehog
|
|
IL11RA
|
interleukin 11 receptor, alpha
|
|
IMPAD1
|
inositol monophosphatase domain containing 1
|
|
INF2
|
inverted formin, FH2 and WH2 domain containing
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
IRF5
|
interferon regulatory factor 5
|
|
IRF6
|
interferon regulatory factor 6
|
|
IRX5
|
iroquois homeobox 5
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
KCNJ8
|
potassium channel, inwardly rectifying subfamily J, member 8
|
|
KCTD1
|
potassium channel tetramerization domain containing 1
|
|
KIAA0319L
|
KIAA0319-like
|
|
KIF1B
|
kinesin family member 1B
|
|
KIF7
|
kinesin family member 7
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LAMA3
|
laminin, alpha 3
|
|
LAMB3
|
laminin, beta 3
|
|
LAMC2
|
laminin, gamma 2
|
|
LBR
|
lamin B receptor
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMBR1
|
limb development membrane protein 1
|
|
LMNA
|
lamin A/C
|
|
LRP4
|
low density lipoprotein receptor-related protein 4
|
|
LRSAM1
|
leucine rich repeat and sterile alpha motif containing 1
|
|
LTBP2
|
latent transforming growth factor beta binding protein 2
|
|
LTBP4
|
latent transforming growth factor beta binding protein 4
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MEF2C
|
myocyte enhancer factor 2C
|
|
MFN2
|
mitofusin 2
|
|
MGP
|
matrix Gla protein
|
|
MIPOL1
|
mirror-image polydactyly 1
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MMP1
|
matrix metallopeptidase 1
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MPST
|
mercaptopyruvate sulfurtransferase
|
|
MPZ
|
myelin protein zero
|
|
MTM1
|
myotubularin 1
|
|
MYCN
|
v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
MYH8
|
myosin, heavy chain 8, skeletal muscle, perinatal
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NBAS
|
neuroblastoma amplified sequence
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NEK1
|
NIMA-related kinase 1
|
|
NELFA
|
negative elongation factor complex member A
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOG
|
noggin
|
|
NOTCH1
|
notch 1
|
|
NOTCH2
|
notch 2
|
|
NPR2
|
natriuretic peptide receptor 2
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
NTNG1
|
netrin G1
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PCNT
|
pericentrin
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PHF6
|
PHD finger protein 6
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIGV
|
phosphatidylinositol glycan anchor biosynthesis, class V
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PITX1
|
paired-like homeodomain 1
|
|
PLEKHG5
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
|
PMP22
|
peripheral myelin protein 22
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PRDM16
|
PR domain containing 16
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRX
|
periaxin
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PVRL1
|
poliovirus receptor-related 1 (herpesvirus entry mediator C)
|
|
PVRL4
|
poliovirus receptor-related 4
|
|
RAB23
|
RAB23, member RAS oncogene family
|
|
RAB3GAP1
|
RAB3 GTPase activating protein subunit 1 (catalytic)
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAB7A
|
RAB7A, member RAS oncogene family
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAD51C
|
RAD51 paralog C
|
|
RAI1
|
retinoic acid induced 1
|
|
RBBP8
|
retinoblastoma binding protein 8
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RHBDF2
|
rhomboid 5 homolog 2 (Drosophila)
|
|
RIPK4
|
receptor-interacting serine-threonine kinase 4
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SACS
|
sacsin molecular chaperone
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SATB2
|
SATB homeobox 2
|
|
SBF2
|
SET binding factor 2
|
|
SC5D
|
sterol-C5-desaturase
|
|
SCARF2
|
scavenger receptor class F, member 2
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SHH
|
sonic hedgehog
|
|
SHOX
|
short stature homeobox
|
|
SIX6
|
SIX homeobox 6
|
|
SKI
|
SKI proto-oncogene
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SLCO2A1
|
solute carrier organic anion transporter family, member 2A1
|
|
SLCO5A1
|
solute carrier organic anion transporter family, member 5A1
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCA2
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
SMS
|
spermine synthase
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SPG20
|
spastic paraplegia 20 (Troyer syndrome)
|
|
SULF1
|
sulfatase 1
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TBX15
|
T-box 15
|
|
TBX2
|
T-box 2
|
|
TBX22
|
T-box 22
|
|
TBX3
|
T-box 3
|
|
TBX4
|
T-box 4
|
|
TCF12
|
transcription factor 12
|
|
TCTN1
|
tectonic family member 1
|
|
TCTN2
|
tectonic family member 2
|
|
TCTN3
|
tectonic family member 3
|
|
TFAP2B
|
transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TMEM138
|
transmembrane protein 138
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM67
|
transmembrane protein 67
|
|
TP63
|
tumor protein p63
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRIP11
|
thyroid hormone receptor interactor 11
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TTC21B
|
tetratricopeptide repeat domain 21B
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
UBE3B
|
ubiquitin protein ligase E3B
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR19
|
WD repeat domain 19
|
|
WDR34
|
WD repeat domain 34
|
|
WDR35
|
WD repeat domain 35
|
|
WDR60
|
WD repeat domain 60
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
WNK1
|
WNK lysine deficient protein kinase 1
|
|
WNT10B
|
wingless-type MMTV integration site family, member 10B
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
|
XYLT1
|
xylosyltransferase I
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
|
ZNF423
|
zinc finger protein 423
|
