| Symbol |
Name |
|
ABCB7
|
ATP-binding cassette, sub-family B (MDR/TAP), member 7
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ABCD3
|
ATP-binding cassette, sub-family D (ALD), member 3
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
ALDH18A1
|
aldehyde dehydrogenase 18 family, member A1
|
|
ALG1
|
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
|
|
ALX4
|
ALX homeobox 4
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
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
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
BCR
|
breakpoint cluster region
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
BMPER
|
BMP binding endothelial regulator
|
|
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
|
|
CCDC8
|
coiled-coil domain containing 8
|
|
CDC6
|
cell division cycle 6
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CDT1
|
chromatin licensing and DNA replication factor 1
|
|
CENPJ
|
centromere protein J
|
|
CEP152
|
centrosomal protein 152kDa
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHL1
|
cell adhesion molecule L1-like
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CITED2
|
Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
|
|
CNTN4
|
contactin 4
|
|
COMT
|
catechol-O-methyltransferase
|
|
CRBN
|
cereblon
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
CTNND2
|
catenin (cadherin-associated protein), delta 2
|
|
CUL7
|
cullin 7
|
|
DDX11
|
DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
|
|
DHCR24
|
24-dehydrocholesterol reductase
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DLL3
|
delta-like 3 (Drosophila)
|
|
DNAJC19
|
DnaJ (Hsp40) homolog, subfamily C, member 19
|
|
DOK7
|
docking protein 7
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
EMG1
|
EMG1 N1-specific pseudouridine methyltransferase
|
|
EPHX1
|
epoxide hydrolase 1, microsomal (xenobiotic)
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC5
|
excision repair cross-complementation group 5
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
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
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FLNB
|
filamin B, beta
|
|
FLVCR2
|
feline leukemia virus subgroup C cellular receptor family, member 2
|
|
FMR1
|
fragile X mental retardation 1
|
|
FTO
|
fat mass and obesity associated
|
|
GATA4
|
GATA binding protein 4
|
|
GATA5
|
GATA binding protein 5
|
|
GATA6
|
GATA binding protein 6
|
|
GBA
|
glucosidase, beta, acid
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GDF1
|
growth differentiation factor 1
|
|
GFM1
|
G elongation factor, mitochondrial 1
|
|
GJA5
|
gap junction protein, alpha 5, 40kDa
|
|
GLI3
|
GLI family zinc finger 3
|
|
GLIS3
|
GLIS family zinc finger 3
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
HDAC6
|
histone deacetylase 6
|
|
HDAC8
|
histone deacetylase 8
|
|
HES7
|
hes family bHLH transcription factor 7
|
|
HHAT
|
hedgehog acyltransferase
|
|
HIRA
|
histone cell cycle regulator
|
|
HMGA2
|
high mobility group AT-hook 2
|
|
HOXD13
|
homeobox D13
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
IBA57
|
IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IGF1R
|
insulin-like growth factor 1 receptor
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
INS
|
insulin
|
|
INSR
|
insulin receptor
|
|
JAG1
|
jagged 1
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KIAA0196
|
KIAA0196
|
|
KIF2A
|
kinesin heavy chain member 2A
|
|
KIF5C
|
kinesin family member 5C
|
|
LEMD3
|
LEM domain containing 3
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LFNG
|
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LMNA
|
lamin A/C
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MCM4
|
minichromosome maintenance complex component 4
|
|
MESP2
|
mesoderm posterior basic helix-loop-helix transcription factor 2
|
|
MKS1
|
Meckel syndrome, type 1
|
|
NBN
|
nibrin
|
|
NELFA
|
negative elongation factor complex member A
|
|
NHP2
|
NHP2 ribonucleoprotein
|
|
NIN
|
ninein (GSK3B interacting protein)
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NODAL
|
nodal growth differentiation factor
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
OBSL1
|
obscurin-like 1
|
|
ORC1
|
origin recognition complex, subunit 1
|
|
ORC4
|
origin recognition complex, subunit 4
|
|
ORC6
|
origin recognition complex, subunit 6
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PCNT
|
pericentrin
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PDGFB
|
platelet-derived growth factor beta polypeptide
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PDX1
|
pancreatic and duodenal homeobox 1
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PKLR
|
pyruvate kinase, liver and RBC
|
|
PLOD3
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
|
|
PSAT1
|
phosphoserine aminotransferase 1
|
|
PSPH
|
phosphoserine phosphatase
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTF1A
|
pancreas specific transcription factor, 1a
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
RAB18
|
RAB18, member RAS oncogene family
|
|
RAB3GAP1
|
RAB3 GTPase activating protein subunit 1 (catalytic)
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAD51C
|
RAD51 paralog C
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RARB
|
retinoic acid receptor, beta
|
|
RB1
|
retinoblastoma 1
|
|
RBBP8
|
retinoblastoma binding protein 8
|
|
RBM10
|
RNA binding motif protein 10
|
|
RECQL4
|
RecQ protein-like 4
|
|
RFX6
|
regulatory factor X, 6
|
|
RIPK4
|
receptor-interacting serine-threonine kinase 4
|
|
RNASEH2A
|
ribonuclease H2, subunit A
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
RPS19
|
ribosomal protein S19
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
SC5D
|
sterol-C5-desaturase
|
|
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
|
|
SFXN4
|
sideroflexin 4
|
|
SHH
|
sonic hedgehog
|
|
SKIV2L
|
superkiller viralicidic activity 2-like (S. cerevisiae)
|
|
SLC20A2
|
solute carrier family 20 (phosphate transporter), member 2
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
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
|
|
SMARCA4
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SMARCE1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
STRA6
|
stimulated by retinoic acid 6
|
|
STT3B
|
STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TBCE
|
tubulin folding cofactor E
|
|
TBX1
|
T-box 1
|
|
TBX2
|
T-box 2
|
|
TBX4
|
T-box 4
|
|
TBX6
|
T-box 6
|
|
TCTN3
|
tectonic family member 3
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TMEM70
|
transmembrane protein 70
|
|
TRIM37
|
tripartite motif containing 37
|
|
TSFM
|
Ts translation elongation factor, mitochondrial
|
|
TTC37
|
tetratricopeptide repeat domain 37
|
|
TTC7A
|
tetratricopeptide repeat domain 7A
|
|
TUBGCP6
|
tubulin, gamma complex associated protein 6
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
UQCC2
|
ubiquinol-cytochrome c reductase complex assembly factor 2
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
VTI1A
|
vesicle transport through interaction with t-SNAREs 1A
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
|
WRAP53
|
WD repeat containing, antisense to TP53
|
|
ZFP57
|
ZFP57 zinc finger protein
|
|
ZFPM2
|
zinc finger protein, FOG family member 2
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
|
ZNF335
|
zinc finger protein 335
|
