| Symbol |
Name |
|
ABCD3
|
ATP-binding cassette, sub-family D (ALD), member 3
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
ALX4
|
ALX homeobox 4
|
|
ARSB
|
arylsulfatase B
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
CCDC8
|
coiled-coil domain containing 8
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CITED2
|
Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
|
|
CNTN1
|
contactin 1
|
|
CUL7
|
cullin 7
|
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
|
DLX3
|
distal-less homeobox 3
|
|
DYM
|
dymeclin
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERF
|
Ets2 repressor factor
|
|
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
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
GATA4
|
GATA binding protein 4
|
|
GATA5
|
GATA binding protein 5
|
|
GATA6
|
GATA binding protein 6
|
|
GDF1
|
growth differentiation factor 1
|
|
GJA5
|
gap junction protein, alpha 5, 40kDa
|
|
GLI3
|
GLI family zinc finger 3
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
IDS
|
iduronate 2-sulfatase
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFT122
|
intraflagellar transport 122
|
|
IFT43
|
intraflagellar transport 43
|
|
IL11RA
|
interleukin 11 receptor, alpha
|
|
ITCH
|
itchy E3 ubiquitin protein ligase
|
|
JAG1
|
jagged 1
|
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
|
KPTN
|
kaptin (actin binding protein)
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
MAN1B1
|
mannosidase, alpha, class 1B, member 1
|
|
MVK
|
mevalonate kinase
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NELFA
|
negative elongation factor complex member A
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NOTCH2
|
notch 2
|
|
NPR2
|
natriuretic peptide receptor 2
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
OBSL1
|
obscurin-like 1
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
ORC4
|
origin recognition complex, subunit 4
|
|
PALB2
|
partner and localizer of BRCA2
|
|
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
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PREPL
|
prolyl endopeptidase-like
|
|
PTEN
|
phosphatase and tensin homolog
|
|
RAB39B
|
RAB39B, member RAS oncogene family
|
|
RAD51C
|
RAD51 paralog C
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
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
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SKI
|
SKI proto-oncogene
|
|
SLC35D1
|
solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
|
|
SLC3A1
|
solute carrier family 3 (amino acid transporter heavy chain), member 1
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
TBC1D7
|
TBC1 domain family, member 7
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TMEM216
|
transmembrane protein 216
|
|
TRIM37
|
tripartite motif containing 37
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
WDR19
|
WD repeat domain 19
|
|
WDR35
|
WD repeat domain 35
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
ZFPM2
|
zinc finger protein, FOG family member 2
|
