| Symbol |
Name |
|
ACTG1
|
actin gamma 1
|
|
AK2
|
adenylate kinase 2
|
|
ANOS1
|
anosmin 1
|
|
ATP6V1B1
|
ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
|
|
BSND
|
barttin CLCNK-type chloride channel accessory beta subunit
|
|
C2ORF71
|
chromosome 2 open reading frame 71
|
|
CABP2
|
calcium binding protein 2
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CEP250
|
centrosomal protein 250kDa
|
|
CFH
|
complement factor H
|
|
CLCNKA
|
chloride channel, voltage-sensitive Ka
|
|
CLCNKB
|
chloride channel, voltage-sensitive Kb
|
|
COCH
|
cochlin
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL9A3
|
collagen, type IX, alpha 3
|
|
COQ6
|
coenzyme Q6 monooxygenase
|
|
DFNA24
|
deafness, autosomal dominant 24
|
|
DFNA52
|
deafness, autosomal dominant 52
|
|
DFNB40
|
deafness, autosomal recessive 40
|
|
EDN1
|
endothelin 1
|
|
EYA4
|
EYA transcriptional coactivator and phosphatase 4
|
|
F2
|
coagulation factor II (thrombin)
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
FGF3
|
fibroblast growth factor 3
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
GATA3
|
GATA binding protein 3
|
|
GIPC3
|
GIPC PDZ domain containing family, member 3
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB3
|
gap junction protein, beta 3, 31kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GPSM2
|
G-protein signaling modulator 2
|
|
GSTM1
|
glutathione S-transferase mu 1
|
|
HARS2
|
histidyl-tRNA synthetase 2, mitochondrial
|
|
HGF
|
hepatocyte growth factor (hepapoietin A; scatter factor)
|
|
HLA-DQB1
|
major histocompatibility complex, class II, DQ beta 1
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HMX2
|
H6 family homeobox 2
|
|
HMX3
|
H6 family homeobox 3
|
|
HSPA1A
|
heat shock 70kDa protein 1A
|
|
HSPA1B
|
heat shock 70kDa protein 1B
|
|
HSPA1L
|
heat shock 70kDa protein 1-like
|
|
IL6
|
interleukin 6
|
|
ITGA2
|
integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
|
|
ITGB3
|
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
KCNQ4
|
potassium channel, voltage gated KQT-like subfamily Q, member 4
|
|
LHX3
|
LIM homeobox 3
|
|
LRTOMT
|
leucine rich transmembrane and O-methyltransferase domain containing
|
|
MBL2
|
mannose-binding lectin (protein C) 2, soluble
|
|
MIF
|
macrophage migration inhibitory factor (glycosylation-inhibiting factor)
|
|
MT-TS1
|
tRNA
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
MYO15A
|
myosin XVA
|
|
MYO1A
|
myosin IA
|
|
MYO1C
|
myosin IC
|
|
MYO1F
|
myosin IF
|
|
MYO6
|
myosin VI
|
|
NGF
|
nerve growth factor (beta polypeptide)
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NOS3
|
nitric oxide synthase 3 (endothelial cell)
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
OTOG
|
otogelin
|
|
OTOGL
|
otogelin-like
|
|
P2RX2
|
purinergic receptor P2X, ligand gated ion channel, 2
|
|
PMP22
|
peripheral myelin protein 22
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PTPRJ
|
protein tyrosine phosphatase, receptor type, J
|
|
RFT1
|
RFT1 homolog (S. cerevisiae)
|
|
RNR2
|
RNA, ribosomal cluster 2
|
|
SERAC1
|
serine active site containing 1
|
|
SERPINB6
|
serpin peptidase inhibitor, clade B (ovalbumin), member 6
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC26A5
|
solute carrier family 26 (anion exchanger), member 5
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SMPX
|
small muscle protein, X-linked
|
|
TBX2
|
T-box 2
|
|
TBX4
|
T-box 4
|
|
TECTA
|
tectorin alpha
|
|
TMC1
|
transmembrane channel-like 1
|
|
TMIE
|
transmembrane inner ear
|
|
TMPRSS3
|
transmembrane protease, serine 3
|
|
TXN
|
thioredoxin
|
|
USH1C
|
Usher syndrome 1C (autosomal recessive, severe)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
