| Symbol |
Name |
|
ABCA1
|
ATP-binding cassette, sub-family A (ABC1), member 1
|
|
ABCD3
|
ATP-binding cassette, sub-family D (ALD), member 3
|
|
AIRE
|
autoimmune regulator
|
|
ALDH18A1
|
aldehyde dehydrogenase 18 family, member A1
|
|
ALDH3A2
|
aldehyde dehydrogenase 3 family, member A2
|
|
APOA1
|
apolipoprotein A-I
|
|
APOB
|
apolipoprotein B
|
|
ARSB
|
arylsulfatase B
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
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
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BUB1
|
BUB1 mitotic checkpoint serine/threonine kinase
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
BUB3
|
BUB3 mitotic checkpoint protein
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CHRDL1
|
chordin-like 1
|
|
CHST6
|
carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL18A1
|
collagen, type XVIII, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
COL8A2
|
collagen, type VIII, alpha 2
|
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
|
CRYAA
|
crystallin, alpha A
|
|
CRYBA4
|
crystallin, beta A4
|
|
CRYBB1
|
crystallin, beta B1
|
|
CRYBB2
|
crystallin, beta B2
|
|
CRYGC
|
crystallin, gamma C
|
|
CRYGD
|
crystallin, gamma D
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CTSA
|
cathepsin A
|
|
CYP1B1
|
cytochrome P450, family 1, subfamily B, polypeptide 1
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DST
|
dystonin
|
|
ELN
|
elastin
|
|
ELP4
|
elongator acetyltransferase complex subunit 4
|
|
EPHX2
|
epoxide hydrolase 2, cytoplasmic
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
FERMT1
|
fermitin family member 1
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLNB
|
filamin B, beta
|
|
FOXC1
|
forkhead box C1
|
|
FOXE3
|
forkhead box E3
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
GALNS
|
galactosamine (N-acetyl)-6-sulfatase
|
|
GBA
|
glucosidase, beta, acid
|
|
GJA8
|
gap junction protein, alpha 8, 50kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB3
|
gap junction protein, beta 3, 31kDa
|
|
GJB4
|
gap junction protein, beta 4, 30.3kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GLA
|
galactosidase, alpha
|
|
GLB1
|
galactosidase, beta 1
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GNPTG
|
N-acetylglucosamine-1-phosphate transferase, gamma subunit
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
GUSB
|
glucuronidase, beta
|
|
HCCS
|
holocytochrome c synthase
|
|
HDAC9
|
histone deacetylase 9
|
|
HMX1
|
H6 family homeobox 1
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IKBKAP
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
JAG1
|
jagged 1
|
|
KERA
|
keratocan
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT12
|
keratin 12, type I
|
|
KRT3
|
keratin 3, type II
|
|
LAMA3
|
laminin, alpha 3
|
|
LARGE
|
like-glycosyltransferase
|
|
LCAT
|
lecithin-cholesterol acyltransferase
|
|
LDLR
|
low density lipoprotein receptor
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LIMK1
|
LIM domain kinase 1
|
|
LTBP2
|
latent transforming growth factor beta binding protein 2
|
|
MAF
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MCOLN1
|
mucolipin 1
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MMP14
|
matrix metallopeptidase 14 (membrane-inserted)
|
|
MMP2
|
matrix metallopeptidase 2
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NELFA
|
negative elongation factor complex member A
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NF2
|
neurofibromin 2 (merlin)
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NTRK1
|
neurotrophic tyrosine kinase, receptor, type 1
|
|
OCLN
|
occludin
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
PAPSS2
|
3'-phosphoadenosine 5'-phosphosulfate synthase 2
|
|
PAX6
|
paired box 6
|
|
PDGFB
|
platelet-derived growth factor beta polypeptide
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
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
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PITX2
|
paired-like homeodomain 2
|
|
PITX3
|
paired-like homeodomain 3
|
|
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)
|
|
PRDM5
|
PR domain containing 5
|
|
PXDN
|
peroxidasin
|
|
RAB23
|
RAB23, member RAS oncogene family
|
|
RAX
|
retina and anterior neural fold homeobox
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RIPK4
|
receptor-interacting serine-threonine kinase 4
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SAT1
|
spermidine/spermine N1-acetyltransferase 1
|
|
SC5D
|
sterol-C5-desaturase
|
|
SETBP1
|
SET binding protein 1
|
|
SLC20A2
|
solute carrier family 20 (phosphate transporter), member 2
|
|
SLC4A11
|
solute carrier family 4, sodium borate transporter, member 11
|
|
SLC4A4
|
solute carrier family 4 (sodium bicarbonate cotransporter), member 4
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
ST14
|
suppression of tumorigenicity 14 (colon carcinoma)
|
|
STS
|
steroid sulfatase (microsomal), isozyme S
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
TAT
|
tyrosine aminotransferase
|
|
TBCE
|
tubulin folding cofactor E
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TCTN2
|
tectonic family member 2
|
|
TGFB2
|
transforming growth factor, beta 2
|
|
TGFBI
|
transforming growth factor, beta-induced, 68kDa
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM5
|
transmembrane protein 5
|
|
TMEM67
|
transmembrane protein 67
|
|
TRAPPC2
|
trafficking protein particle complex 2
|
|
TRPV3
|
transient receptor potential cation channel, subfamily V, member 3
|
|
UBIAD1
|
UbiA prenyltransferase domain containing 1
|
|
UROS
|
uroporphyrinogen III synthase
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
YAP1
|
Yes-associated protein 1
|
