| Symbol |
Name |
|
ABHD12
|
abhydrolase domain containing 12
|
|
ACE
|
angiotensin I converting enzyme
|
|
ACTG1
|
actin gamma 1
|
|
ADCY1
|
adenylate cyclase 1 (brain)
|
|
ADIPOQ
|
adiponectin, C1Q and collagen domain containing
|
|
ANKH
|
ANKH inorganic pyrophosphate transport regulator
|
|
ANOS1
|
anosmin 1
|
|
APOE
|
apolipoprotein E
|
|
AQP4
|
aquaporin 4
|
|
ATP6V0A4
|
ATPase, H+ transporting, lysosomal V0 subunit a4
|
|
ATP6V1B1
|
ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
|
|
ATP8B1
|
ATPase, aminophospholipid transporter, class I, type 8B, member 1
|
|
BDP1
|
B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB
|
|
C2ORF71
|
chromosome 2 open reading frame 71
|
|
CABP2
|
calcium binding protein 2
|
|
CAT
|
catalase
|
|
CCDC50
|
coiled-coil domain containing 50
|
|
CDH23
|
cadherin-related 23
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CEP250
|
centrosomal protein 250kDa
|
|
CFH
|
complement factor H
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CLDN14
|
claudin 14
|
|
CLDN9
|
claudin 9
|
|
COCH
|
cochlin
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL4A4
|
collagen, type IV, alpha 4
|
|
COL4A6
|
collagen, type IV, alpha 6
|
|
COL9A3
|
collagen, type IX, alpha 3
|
|
COMT
|
catechol-O-methyltransferase
|
|
COX2
|
|
|
CTBP2
|
C-terminal binding protein 2
|
|
DFNA18
|
deafness, autosomal dominant 18
|
|
DFNA24
|
deafness, autosomal dominant 24
|
|
DFNA5
|
deafness, autosomal dominant 5
|
|
DFNA52
|
deafness, autosomal dominant 52
|
|
DFNA54
|
deafness, autosomal dominant 54
|
|
DFNB40
|
deafness, autosomal recessive 40
|
|
DFNB45
|
deafness, autosomal recessive 45
|
|
DFNB55
|
deafness, autosomal recessive 55
|
|
DFNB59
|
deafness, autosomal recessive 59
|
|
DFNY1
|
deafness, Y-linked 1
|
|
DNMT1
|
DNA (cytosine-5-)-methyltransferase 1
|
|
EDN1
|
endothelin 1
|
|
EPO
|
erythropoietin
|
|
ESPN
|
espin
|
|
ESRRB
|
estrogen-related receptor beta
|
|
ESRRG
|
estrogen-related receptor gamma
|
|
EYA4
|
EYA transcriptional coactivator and phosphatase 4
|
|
F2
|
coagulation factor II (thrombin)
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
FABP2
|
fatty acid binding protein 2, intestinal
|
|
FGB
|
fibrinogen beta chain
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FLG
|
filaggrin
|
|
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
|
|
GJB4
|
gap junction protein, beta 4, 30.3kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GJC1
|
gap junction protein, gamma 1, 45kDa
|
|
GJC3
|
gap junction protein, gamma 3, 30.2kDa
|
|
GJD2
|
gap junction protein, delta 2, 36kDa
|
|
GPSM2
|
G-protein signaling modulator 2
|
|
GRHL2
|
grainyhead-like 2 (Drosophila)
|
|
GRM7
|
glutamate receptor, metabotropic 7
|
|
GRXCR1
|
glutaredoxin, cysteine rich 1
|
|
GRXCR2
|
glutaredoxin, cysteine rich 2
|
|
GSTM1
|
glutathione S-transferase mu 1
|
|
GSTP1
|
glutathione S-transferase pi 1
|
|
GSTT1
|
glutathione S-transferase theta 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
|
|
HOXA2
|
homeobox A2
|
|
HOXB1
|
homeobox B1
|
|
HSPA1A
|
heat shock 70kDa protein 1A
|
|
HSPA1B
|
heat shock 70kDa protein 1B
|
|
HSPA1L
|
heat shock 70kDa protein 1-like
|
|
HSPA4
|
heat shock 70kDa protein 4
|
|
IFNG
|
interferon, gamma
|
|
IL1B
|
interleukin 1, beta
|
|
IL6
|
interleukin 6
|
|
ILDR1
|
immunoglobulin-like domain containing receptor 1
|
|
IQGAP2
|
IQ motif containing GTPase activating protein 2
|
|
ITGA2
|
integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
|
|
ITGB3
|
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
|
|
KARS
|
lysyl-tRNA synthetase
|
|
KCNE1
|
potassium channel, voltage gated subfamily E regulatory beta subunit 1
|
|
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
|
|
LARS2
|
leucyl-tRNA synthetase 2, mitochondrial
|
|
LHFPL5
|
lipoma HMGIC fusion partner-like 5
|
|
LHX3
|
LIM homeobox 3
|
|
LOXHD1
|
lipoxygenase homology domains 1
|
|
LRTOMT
|
leucine rich transmembrane and O-methyltransferase domain containing
|
|
MARVELD2
|
MARVEL domain containing 2
|
|
MBL2
|
mannose-binding lectin (protein C) 2, soluble
|
|
MBP
|
myelin basic protein
|
|
MCHR1
|
melanin-concentrating hormone receptor 1
|
|
MICA
|
MHC class I polypeptide-related sequence A
|
|
MIF
|
macrophage migration inhibitory factor (glycosylation-inhibiting factor)
|
|
MIR183
|
microRNA 183
|
|
MT-ATP6
|
ATP synthase F0 subunit 6
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-TS1
|
tRNA
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MTR
|
5-methyltetrahydrofolate-homocysteine methyltransferase
|
|
MYH14
|
myosin, heavy chain 14, non-muscle
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
MYO15A
|
myosin XVA
|
|
MYO1A
|
myosin IA
|
|
MYO1C
|
myosin IC
|
|
MYO1F
|
myosin IF
|
|
MYO3A
|
myosin IIIA
|
|
MYO6
|
myosin VI
|
|
MYO7A
|
myosin VIIA
|
|
NAT2
|
N-acetyltransferase 2 (arylamine N-acetyltransferase)
|
|
ND1
|
|
|
NEUROG1
|
neurogenin 1
|
|
NF2
|
neurofibromin 2 (merlin)
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NOG
|
noggin
|
|
NOS1
|
nitric oxide synthase 1 (neuronal)
|
|
NOS2
|
nitric oxide synthase 2, inducible
|
|
NOS3
|
nitric oxide synthase 3 (endothelial cell)
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
OTOA
|
otoancorin
|
|
OTOF
|
otoferlin
|
|
OTOG
|
otogelin
|
|
OTOGL
|
otogelin-like
|
|
P2RX2
|
purinergic receptor P2X, ligand gated ion channel, 2
|
|
PCDH15
|
protocadherin-related 15
|
|
PCNA
|
proliferating cell nuclear antigen
|
|
PMP22
|
peripheral myelin protein 22
|
|
PNPT1
|
polyribonucleotide nucleotidyltransferase 1
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PON2
|
paraoxonase 2
|
|
POU3F4
|
POU class 3 homeobox 4
|
|
POU4F3
|
POU class 4 homeobox 3
|
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PTPRQ
|
protein tyrosine phosphatase, receptor type, Q
|
|
RDX
|
radixin
|
|
RNR1
|
RNA, ribosomal cluster 1
|
|
RNR2
|
RNA, ribosomal cluster 2
|
|
RSPO1
|
R-spondin 1
|
|
SERPINB6
|
serpin peptidase inhibitor, clade B (ovalbumin), member 6
|
|
SHOX
|
short stature homeobox
|
|
SIX1
|
SIX homeobox 1
|
|
SLC12A2
|
solute carrier family 12 (sodium/potassium/chloride transporter), member 2
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC26A1
|
solute carrier family 26 (anion exchanger), member 1
|
|
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
|
|
SLITRK6
|
SLIT and NTRK-like family, member 6
|
|
SMPX
|
small muscle protein, X-linked
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SOD2
|
superoxide dismutase 2, mitochondrial
|
|
STRC
|
stereocilin
|
|
SYNE4
|
spectrin repeat containing, nuclear envelope family member 4
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBX2
|
T-box 2
|
|
TBX4
|
T-box 4
|
|
TECTA
|
tectorin alpha
|
|
TFCP2
|
transcription factor CP2
|
|
THRB
|
thyroid hormone receptor, beta
|
|
TJP2
|
tight junction protein 2
|
|
TLR2
|
toll-like receptor 2
|
|
TLR4
|
toll-like receptor 4
|
|
TLR9
|
toll-like receptor 9
|
|
TMC1
|
transmembrane channel-like 1
|
|
TMIE
|
transmembrane inner ear
|
|
TMPRSS3
|
transmembrane protease, serine 3
|
|
TNC
|
tenascin C
|
|
TNF
|
tumor necrosis factor
|
|
TPMT
|
thiopurine S-methyltransferase
|
|
TPRN
|
taperin
|
|
TRIOBP
|
TRIO and F-actin binding protein
|
|
TSPEAR
|
thrombospondin-type laminin G domain and EAR repeats
|
|
UCP1
|
uncoupling protein 1 (mitochondrial, proton carrier)
|
|
USH1C
|
Usher syndrome 1C (autosomal recessive, severe)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
XIAP
|
X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
|
