| Symbol |
Name |
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ACAN
|
aggrecan
|
|
ADK
|
adenosine kinase
|
|
AGGF1
|
angiogenic factor with G patch and FHA domains 1
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
AKT3
|
v-akt murine thymoma viral oncogene homolog 3
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ANKH
|
ANKH inorganic pyrophosphate transport regulator
|
|
ANTXR2
|
anthrax toxin receptor 2
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARSB
|
arylsulfatase B
|
|
ASPA
|
aspartoacylase
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B3GNT1
|
|
|
B4GALT1
|
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
|
|
B4GALT7
|
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
|
|
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
|
|
BMP2
|
bone morphogenetic protein 2
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRWD3
|
bromodomain and WD repeat domain containing 3
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCDC22
|
coiled-coil domain containing 22
|
|
CCND2
|
cyclin D2
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CHRNA7
|
cholinergic receptor, nicotinic, alpha 7 (neuronal)
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
CUL4B
|
cullin 4B
|
|
D2HGDH
|
D-2-hydroxyglutarate dehydrogenase
|
|
DHCR24
|
24-dehydrocholesterol reductase
|
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
|
DLL3
|
delta-like 3 (Drosophila)
|
|
DNMT3B
|
DNA (cytosine-5-)-methyltransferase 3 beta
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
EFEMP2
|
EGF containing fibulin-like extracellular matrix protein 2
|
|
EIF2B1
|
eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
|
|
EIF2B2
|
eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
|
|
EIF2B3
|
eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
|
|
EIF2B4
|
eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
|
|
EIF2B5
|
eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
|
|
ERF
|
Ets2 repressor factor
|
|
ETFA
|
electron-transfer-flavoprotein, alpha polypeptide
|
|
ETFB
|
electron-transfer-flavoprotein, beta polypeptide
|
|
ETFDH
|
electron-transferring-flavoprotein dehydrogenase
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FAM20A
|
family with sequence similarity 20, member A
|
|
FBN1
|
fibrillin 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FH
|
fumarate hydratase
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
GCDH
|
glutaryl-CoA dehydrogenase
|
|
GFAP
|
glial fibrillary acidic protein
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GLI3
|
GLI family zinc finger 3
|
|
GNAI3
|
guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GNAS
|
GNAS complex locus
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GRIA3
|
glutamate receptor, ionotropic, AMPA 3
|
|
GUSB
|
glucuronidase, beta
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC6
|
histone deacetylase 6
|
|
HEPACAM
|
hepatic and glial cell adhesion molecule
|
|
HES7
|
hes family bHLH transcription factor 7
|
|
HEXB
|
hexosaminidase B (beta polypeptide)
|
|
HOXD13
|
homeobox D13
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
HUWE1
|
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
|
|
IDS
|
iduronate 2-sulfatase
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFT27
|
intraflagellar transport 27
|
|
IFT43
|
intraflagellar transport 43
|
|
IFT80
|
intraflagellar transport 80
|
|
IGBP1
|
immunoglobulin (CD79A) binding protein 1
|
|
IHH
|
indian hedgehog
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
INPPL1
|
inositol polyphosphate phosphatase-like 1
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
ITCH
|
itchy E3 ubiquitin protein ligase
|
|
KCNJ1
|
potassium channel, inwardly rectifying subfamily J, member 1
|
|
KCNJ8
|
potassium channel, inwardly rectifying subfamily J, member 8
|
|
KCNQ1OT1
|
KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KIAA0196
|
KIAA0196
|
|
KIF22
|
kinesin family member 22
|
|
KIF7
|
kinesin family member 7
|
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
L2HGDH
|
L-2-hydroxyglutarate dehydrogenase
|
|
LAMB1
|
laminin, beta 1
|
|
LARGE
|
like-glycosyltransferase
|
|
LBR
|
lamin B receptor
|
|
LFNG
|
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
|
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
|
LRP4
|
low density lipoprotein receptor-related protein 4
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MESP2
|
mesoderm posterior basic helix-loop-helix transcription factor 2
|
|
MGAT2
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MLC1
|
megalencephalic leukoencephalopathy with subcortical cysts 1
|
|
MOCS1
|
molybdenum cofactor synthesis 1
|
|
MOCS2
|
molybdenum cofactor synthesis 2
|
|
MPDZ
|
multiple PDZ domain protein
|
|
MTM1
|
myotubularin 1
|
|
MYH8
|
myosin, heavy chain 8, skeletal muscle, perinatal
|
|
NDUFA1
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
|
|
NDUFA11
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
|
|
NDUFAF1
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
|
|
NDUFAF2
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
|
|
NDUFAF3
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
|
|
NDUFAF4
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
|
|
NDUFAF5
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
|
|
NDUFB3
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
|
|
NDUFB9
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
|
|
NDUFS1
|
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
|
|
NDUFS2
|
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
|
|
NDUFS3
|
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
|
|
NDUFS4
|
NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
|
|
NDUFS6
|
NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
|
|
NDUFV1
|
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
|
|
NDUFV2
|
NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
|
|
NF1
|
neurofibromin 1
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NOTCH2
|
notch 2
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NUBPL
|
nucleotide binding protein-like
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OPHN1
|
oligophrenin 1
|
|
PDSS1
|
prenyl (decaprenyl) diphosphate synthase, subunit 1
|
|
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
|
|
PHF6
|
PHD finger protein 6
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PIGN
|
phosphatidylinositol glycan anchor biosynthesis, class N
|
|
PIGT
|
phosphatidylinositol glycan anchor biosynthesis, class T
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3R2
|
phosphoinositide-3-kinase, regulatory subunit 2 (beta)
|
|
PITX1
|
paired-like homeodomain 1
|
|
PLCB4
|
phospholipase C, beta 4
|
|
PLG
|
plasminogen
|
|
POC1A
|
POC1 centriolar protein A
|
|
POLE
|
polymerase (DNA directed), epsilon, catalytic subunit
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMGNT2
|
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
|
|
POMK
|
protein-O-mannose kinase
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PTCH1
|
patched 1
|
|
PTCH2
|
patched 2
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTHLH
|
parathyroid hormone-like hormone
|
|
RAB39B
|
RAB39B, member RAS oncogene family
|
|
RIT1
|
Ras-like without CAAX 1
|
|
RNF135
|
ring finger protein 135
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RUNX2
|
runt-related transcription factor 2
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SEC23A
|
Sec23 homolog A (S. cerevisiae)
|
|
SERPINH1
|
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
|
|
SH2B1
|
SH2B adaptor protein 1
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SHOC2
|
soc-2 suppressor of clear homolog (C. elegans)
|
|
SIM1
|
single-minded family bHLH transcription factor 1
|
|
SLC25A1
|
solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SLC2A10
|
solute carrier family 2 (facilitated glucose transporter), member 10
|
|
SLC35D1
|
solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SNX10
|
sorting nexin 10
|
|
SOS1
|
son of sevenless homolog 1 (Drosophila)
|
|
SOST
|
sclerostin
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SPRED1
|
sprouty-related, EVH1 domain containing 1
|
|
STRADA
|
STE20-related kinase adaptor alpha
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
SYN1
|
synapsin I
|
|
TBC1D7
|
TBC1 domain family, member 7
|
|
TBX6
|
T-box 6
|
|
TCF12
|
transcription factor 12
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
THRA
|
thyroid hormone receptor, alpha
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM5
|
transmembrane protein 5
|
|
TMEM67
|
transmembrane protein 67
|
|
TNFRSF11B
|
tumor necrosis factor receptor superfamily, member 11b
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRIM37
|
tripartite motif containing 37
|
|
TRIP11
|
thyroid hormone receptor interactor 11
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
UPF3B
|
UPF3 regulator of nonsense transcripts homolog B (yeast)
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR34
|
WD repeat domain 34
|
|
WDR35
|
WD repeat domain 35
|
|
WDR60
|
WD repeat domain 60
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
XYLT1
|
xylosyltransferase I
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZBTB24
|
zinc finger and BTB domain containing 24
|
|
ZDHHC9
|
zinc finger, DHHC-type containing 9
|
|
ZNF469
|
zinc finger protein 469
|
