| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
ABCB6
|
ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
|
|
ABCD3
|
ATP-binding cassette, sub-family D (ALD), member 3
|
|
ACTA2
|
actin, alpha 2, smooth muscle, aorta
|
|
ACTB
|
actin, beta
|
|
ACTG1
|
actin gamma 1
|
|
ADAMTSL4
|
ADAMTS-like 4
|
|
AHI1
|
Abelson helper integration site 1
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALG2
|
ALG2, alpha-1,3/1,6-mannosyltransferase
|
|
ALG3
|
ALG3, alpha-1,3- mannosyltransferase
|
|
ANK1
|
ankyrin 1, erythrocytic
|
|
AP3B1
|
adaptor-related protein complex 3, beta 1 subunit
|
|
ARL13B
|
ADP-ribosylation factor-like 13B
|
|
ASPH
|
aspartate beta-hydroxylase
|
|
ATOH7
|
atonal homolog 7 (Drosophila)
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B3GNT1
|
|
|
B9D1
|
B9 protein domain 1
|
|
B9D2
|
B9 protein domain 2
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCOR
|
BCL6 corepressor
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BLOC1S3
|
biogenesis of lysosomal organelles complex-1, subunit 3
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BTRC
|
beta-transducin repeat containing E3 ubiquitin protein ligase
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCDC22
|
coiled-coil domain containing 22
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHN1
|
chimerin 1
|
|
CHRDL1
|
chordin-like 1
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
CRYAA
|
crystallin, alpha A
|
|
CRYBA4
|
crystallin, beta A4
|
|
CRYBB1
|
crystallin, beta B1
|
|
CRYBB2
|
crystallin, beta B2
|
|
CRYGC
|
crystallin, gamma C
|
|
CRYGD
|
crystallin, gamma D
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
DDC
|
dopa decarboxylase (aromatic L-amino acid decarboxylase)
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
|
DLX5
|
distal-less homeobox 5
|
|
DTNBP1
|
dystrobrevin binding protein 1
|
|
EDN3
|
endothelin 3
|
|
EDNRB
|
endothelin receptor type B
|
|
ELN
|
elastin
|
|
ELP4
|
elongator acetyltransferase complex subunit 4
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERF
|
Ets2 repressor factor
|
|
FAM111A
|
family with sequence similarity 111, 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
|
|
FBN1
|
fibrillin 1
|
|
FBXW4
|
F-box and WD repeat domain containing 4
|
|
FGF3
|
fibroblast growth factor 3
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLNA
|
filamin A, alpha
|
|
FOXC1
|
forkhead box C1
|
|
FOXE3
|
forkhead box E3
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GDF3
|
growth differentiation factor 3
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJA8
|
gap junction protein, alpha 8, 50kDa
|
|
GMPPA
|
GDP-mannose pyrophosphorylase A
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GPR143
|
G protein-coupled receptor 143
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
HCCS
|
holocytochrome c synthase
|
|
HERC2
|
HECT and RLD domain containing E3 ubiquitin protein ligase 2
|
|
HHAT
|
hedgehog acyltransferase
|
|
HPS1
|
Hermansky-Pudlak syndrome 1
|
|
HPS4
|
Hermansky-Pudlak syndrome 4
|
|
HPS5
|
Hermansky-Pudlak syndrome 5
|
|
HPS6
|
Hermansky-Pudlak syndrome 6
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
IGBP1
|
immunoglobulin (CD79A) binding protein 1
|
|
IKBKAP
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCTD1
|
potassium channel tetramerization domain containing 1
|
|
KIAA0196
|
KIAA0196
|
|
KIF1BP
|
KIF1 binding protein
|
|
KIF7
|
kinesin family member 7
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT71
|
keratin 71, type II
|
|
KRT74
|
keratin 74, type II
|
|
LAMB2
|
laminin, beta 2 (laminin S)
|
|
LARGE
|
like-glycosyltransferase
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LIMK1
|
LIM domain kinase 1
|
|
LIPH
|
lipase, member H
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
LPAR6
|
lysophosphatidic acid receptor 6
|
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LTBP2
|
latent transforming growth factor beta binding protein 2
|
|
LYST
|
lysosomal trafficking regulator
|
|
MAF
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MC1R
|
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MLPH
|
melanophilin
|
|
MPZ
|
myelin protein zero
|
|
MYH11
|
myosin, heavy chain 11, smooth muscle
|
|
MYO5A
|
myosin VA (heavy chain 12, myoxin)
|
|
MYOC
|
myocilin, trabecular meshwork inducible glucocorticoid response
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NELFA
|
negative elongation factor complex member A
|
|
NF1
|
neurofibromin 1
|
|
NME1
|
NME/NM23 nucleoside diphosphate kinase 1
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOTCH2
|
notch 2
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
OCA2
|
oculocutaneous albinism II
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
ORAI1
|
ORAI calcium release-activated calcium modulator 1
|
|
PAH
|
phenylalanine hydroxylase
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PAX3
|
paired box 3
|
|
PAX6
|
paired box 6
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
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
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PITX2
|
paired-like homeodomain 2
|
|
POLR1C
|
polymerase (RNA) I polypeptide C, 30kDa
|
|
POLR1D
|
polymerase (RNA) I polypeptide D, 16kDa
|
|
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
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
POU6F2
|
POU class 6 homeobox 2
|
|
PRDM16
|
PR domain containing 16
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PTCH1
|
patched 1
|
|
PTCH2
|
patched 2
|
|
PTEN
|
phosphatase and tensin homolog
|
|
RAB27A
|
RAB27A, member RAS oncogene family
|
|
RAD51C
|
RAD51 paralog C
|
|
RB1
|
retinoblastoma 1
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SALL2
|
spalt-like transcription factor 2
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
|
SHFM1
|
split hand/foot malformation (ectrodactyly) type 1
|
|
SHH
|
sonic hedgehog
|
|
SIX6
|
SIX homeobox 6
|
|
SKI
|
SKI proto-oncogene
|
|
SLC45A2
|
solute carrier family 45, member 2
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SNAI2
|
snail family zinc finger 2
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOS1
|
son of sevenless homolog 1 (Drosophila)
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
STIM1
|
stromal interaction molecule 1
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX22
|
T-box 22
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TCTN1
|
tectonic family member 1
|
|
TCTN2
|
tectonic family member 2
|
|
TCTN3
|
tectonic family member 3
|
|
TENM3
|
teneurin transmembrane protein 3
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TMEM114
|
transmembrane protein 114
|
|
TMEM138
|
transmembrane protein 138
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM5
|
transmembrane protein 5
|
|
TMEM67
|
transmembrane protein 67
|
|
TP63
|
tumor protein p63
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TYR
|
tyrosinase
|
|
TYRP1
|
tyrosinase-related protein 1
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UROC1
|
urocanate hydratase 1
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
VSX2
|
visual system homeobox 2
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
WNT10B
|
wingless-type MMTV integration site family, member 10B
|
|
WNT3
|
wingless-type MMTV integration site family, member 3
|
|
WT1
|
Wilms tumor 1
|
|
YAP1
|
Yes-associated protein 1
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
|
ZNF423
|
zinc finger protein 423
|
