| Symbol |
Name |
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
ALDH7A1
|
aldehyde dehydrogenase 7 family, member A1
|
|
ATP2B2
|
ATPase, Ca++ transporting, plasma membrane 2
|
|
ATP6V0A4
|
ATPase, H+ transporting, lysosomal V0 subunit a4
|
|
ATP6V1B1
|
ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
|
|
BIRC5
|
baculoviral IAP repeat containing 5
|
|
CABP2
|
calcium binding protein 2
|
|
CACNA1D
|
calcium channel, voltage-dependent, L type, alpha 1D subunit
|
|
CCDC50
|
coiled-coil domain containing 50
|
|
CDC14A
|
cell division cycle 14A
|
|
CDH23
|
cadherin-related 23
|
|
CEACAM16
|
carcinoembryonic antigen-related cell adhesion molecule 16
|
|
CEMIP
|
cell migration inducing protein, hyaluronan binding
|
|
CHRNB2
|
cholinergic receptor, nicotinic, beta 2 (neuronal)
|
|
CLIC5
|
chloride intracellular channel 5
|
|
CLRN1
|
clarin 1
|
|
CLRN2
|
clarin 2
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL4A3
|
collagen, type IV, alpha 3 (Goodpasture antigen)
|
|
CRYM
|
crystallin, mu
|
|
DCDC2
|
doublecortin domain containing 2
|
|
DFNB31
|
deafness, autosomal recessive 31
|
|
DFNB59
|
deafness, autosomal recessive 59
|
|
EML2
|
echinoderm microtubule associated protein like 2
|
|
EPS8L2
|
EPS8-like 2
|
|
ESPNL
|
espin-like
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
GRAP
|
GRB2-related adaptor protein
|
|
GRM7
|
glutamate receptor, metabotropic 7
|
|
GRXCR1
|
glutaredoxin, cysteine rich 1
|
|
GRXCR2
|
glutaredoxin, cysteine rich 2
|
|
GSDME
|
gasdermin E
|
|
HOMER2
|
homer scaffolding protein 2
|
|
HOXA1
|
homeobox A1
|
|
KCNE1
|
potassium channel, voltage gated subfamily E regulatory beta subunit 1
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
LHFPL3
|
lipoma HMGIC fusion partner-like 3
|
|
LHFPL4
|
lipoma HMGIC fusion partner-like 4
|
|
LHFPL5
|
lipoma HMGIC fusion partner-like 5
|
|
LOXHD1
|
lipoxygenase homology domains 1
|
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
|
LRTOMT
|
leucine rich transmembrane and O-methyltransferase domain containing
|
|
MARVELD2
|
MARVEL domain containing 2
|
|
MYH7B
|
myosin, heavy chain 7B, cardiac muscle, beta
|
|
MYO1A
|
myosin IA
|
|
MYO3A
|
myosin IIIA
|
|
MYO3B
|
myosin IIIB
|
|
MYO7A
|
myosin VIIA
|
|
MYO7B
|
myosin VIIB
|
|
NDUFB9
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
OTOR
|
otoraplin
|
|
OTOS
|
otospiralin
|
|
P2RX2
|
purinergic receptor P2X, ligand gated ion channel, 2
|
|
P2RX4
|
purinergic receptor P2X, ligand gated ion channel, 4
|
|
PAX3
|
paired box 3
|
|
PCDH15
|
protocadherin-related 15
|
|
PDZD7
|
PDZ domain containing 7
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
POU3F4
|
POU class 3 homeobox 4
|
|
RIPOR2
|
RHO family interacting cell polarization regulator 2
|
|
ROR1
|
receptor tyrosine kinase-like orphan receptor 1
|
|
SERPINB6
|
serpin peptidase inhibitor, clade B (ovalbumin), member 6
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC26A5
|
solute carrier family 26 (anion exchanger), member 5
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SNAI2
|
snail family zinc finger 2
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SPNS2
|
spinster homolog 2 (Drosophila)
|
|
SPTBN4
|
spectrin, beta, non-erythrocytic 4
|
|
TBL1X
|
transducin (beta)-like 1X-linked
|
|
TBX1
|
T-box 1
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TIMM10
|
translocase of inner mitochondrial membrane 10 homolog (yeast)
|
|
TIMM13
|
translocase of inner mitochondrial membrane 13 homolog (yeast)
|
|
TIMM8B
|
translocase of inner mitochondrial membrane 8 homolog B (yeast)
|
|
TIMM9
|
translocase of inner mitochondrial membrane 9 homolog (yeast)
|
|
TMIE
|
transmembrane inner ear
|
|
TPRN
|
taperin
|
|
TSPEAR
|
thrombospondin-type laminin G domain and EAR repeats
|
|
USH1C
|
Usher syndrome 1C (autosomal recessive, severe)
|
|
USH1G
|
Usher syndrome 1G (autosomal recessive)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
USP53
|
ubiquitin specific peptidase 53
|
|
WDR1
|
WD repeat domain 1
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
ZNF354A
|
zinc finger protein 354A
|
