| Symbol |
Name |
|
ABCA12
|
ATP-binding cassette, sub-family A (ABC1), member 12
|
|
ACE
|
angiotensin I converting enzyme
|
|
AMMECR1
|
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
|
|
ANKH
|
ANKH inorganic pyrophosphate transport regulator
|
|
AP1B1
|
adaptor-related protein complex 1, beta 1 subunit
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
APC2
|
adenomatosis polyposis coli 2
|
|
ATP1A1
|
ATPase, Na+/K+ transporting, alpha 1 polypeptide
|
|
ATP1B1
|
ATPase, Na+/K+ transporting, beta 1 polypeptide
|
|
ATP5F1D
|
ATP synthase F1 subunit delta
|
|
BBS10
|
Bardet-Biedl syndrome 10
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
CAT
|
catalase
|
|
CDH11
|
cadherin 11, type 2, OB-cadherin (osteoblast)
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COX8A
|
cytochrome c oxidase subunit VIIIA (ubiquitous)
|
|
CTAGE5
|
CTAGE family, member 5
|
|
CXCR4
|
chemokine (C-X-C motif) receptor 4
|
|
DNAH11
|
dynein, axonemal, heavy chain 11
|
|
DSPP
|
dentin sialophosphoprotein
|
|
EDNRB
|
endothelin receptor type B
|
|
ENPP1
|
ectonucleotide pyrophosphatase/phosphodiesterase 1
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
FCGR1A
|
Fc fragment of IgG, high affinity Ia, receptor (CD64)
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FLNB
|
filamin B, beta
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB3
|
gap junction protein, beta 3, 31kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GNAS
|
GNAS complex locus
|
|
GSDME
|
gasdermin E
|
|
HGD
|
homogentisate 1,2-dioxygenase
|
|
HOXA2
|
homeobox A2
|
|
HSPA4
|
heat shock 70kDa protein 4
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
ILDR1
|
immunoglobulin-like domain containing receptor 1
|
|
INSR
|
insulin receptor
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KCNQ4
|
potassium channel, voltage gated KQT-like subfamily Q, member 4
|
|
KLF6
|
Kruppel-like factor 6
|
|
LOXHD1
|
lipoxygenase homology domains 1
|
|
LTBP3
|
latent transforming growth factor beta binding protein 3
|
|
MCU
|
mitochondrial calcium uniporter
|
|
MEN1
|
multiple endocrine neoplasia I
|
|
MYH14
|
myosin, heavy chain 14, non-muscle
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
NBN
|
nibrin
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
P2RX2
|
purinergic receptor P2X, ligand gated ion channel, 2
|
|
PAX1
|
paired box 1
|
|
PAX2
|
paired box 2
|
|
PAX6
|
paired box 6
|
|
PEX13
|
peroxisomal biogenesis factor 13
|
|
PIGB
|
phosphatidylinositol glycan anchor biosynthesis, class B
|
|
POLR3A
|
polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
POU3F4
|
POU class 3 homeobox 4
|
|
PTGDS
|
prostaglandin D2 synthase 21kDa (brain)
|
|
RAB40AL
|
RAB40A, member RAS oncogene family-like
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RPS28
|
ribosomal protein S28
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SIX1
|
SIX homeobox 1
|
|
SLC12A2
|
solute carrier family 12 (sodium/potassium/chloride transporter), member 2
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC7A8
|
solute carrier family 7 (amino acid transporter light chain, L system), member 8
|
|
SLITRK6
|
SLIT and NTRK-like family, member 6
|
|
SMPX
|
small muscle protein, X-linked
|
|
SOD2
|
superoxide dismutase 2, mitochondrial
|
|
SPTBN4
|
spectrin, beta, non-erythrocytic 4
|
|
SYNE4
|
spectrin repeat containing, nuclear envelope family member 4
|
|
TECTA
|
tectorin alpha
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TRRAP
|
transformation/transcription domain-associated protein
|
|
WDR37
|
WD repeat domain 37
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WT1
|
Wilms tumor 1
|
|
XBP1
|
X-box binding protein 1
|
|
ZAN
|
zonadhesin (gene/pseudogene)
|
|
ZNHIT6
|
zinc finger, HIT-type containing 6
|
