| Symbol |
Name |
|
A2ML1
|
alpha-2-macroglobulin-like 1
|
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
ABHD5
|
abhydrolase domain containing 5
|
|
ACO2
|
aconitase 2, mitochondrial
|
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
|
ACTB
|
actin, beta
|
|
ACTC1
|
actin, alpha, cardiac muscle 1
|
|
ACTG1
|
actin gamma 1
|
|
ACTN2
|
actinin, alpha 2
|
|
ACVR1
|
activin A receptor, type I
|
|
ACY1
|
aminoacylase 1
|
|
ADCY1
|
adenylate cyclase 1 (brain)
|
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
ADK
|
adenosine kinase
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
ALG11
|
ALG11, alpha-1,2-mannosyltransferase
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ANKH
|
ANKH inorganic pyrophosphate transport regulator
|
|
ANOS1
|
anosmin 1
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
ARHGEF6
|
Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARL2BP
|
ADP-ribosylation factor-like 2 binding protein
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ASCL1
|
achaete-scute family bHLH transcription factor 1
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATP6V0A4
|
ATPase, H+ transporting, lysosomal V0 subunit a4
|
|
ATP6V1B1
|
ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCAP31
|
B-cell receptor-associated protein 31
|
|
BCOR
|
BCL6 corepressor
|
|
BCR
|
breakpoint cluster region
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BEAN1
|
brain expressed, associated with NEDD4, 1
|
|
BEST1
|
bestrophin 1
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BSND
|
barttin CLCNK-type chloride channel accessory beta subunit
|
|
BTD
|
biotinidase
|
|
BTRC
|
beta-transducin repeat containing E3 ubiquitin protein ligase
|
|
C2ORF71
|
chromosome 2 open reading frame 71
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
C8ORF37
|
chromosome 8 open reading frame 37
|
|
CA4
|
carbonic anhydrase IV
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CALM1
|
calmodulin 1 (phosphorylase kinase, delta)
|
|
CASK
|
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
|
|
CASQ2
|
calsequestrin 2 (cardiac muscle)
|
|
CATSPER2
|
cation channel, sperm associated 2
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CCDC50
|
coiled-coil domain containing 50
|
|
CD151
|
CD151 molecule (Raph blood group)
|
|
CDH23
|
cadherin-related 23
|
|
CDHR1
|
cadherin-related family member 1
|
|
CDK5RAP2
|
CDK5 regulatory subunit associated protein 2
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CERKL
|
ceramide kinase-like
|
|
CHCHD10
|
coiled-coil-helix-coiled-coil-helix domain containing 10
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHSY1
|
chondroitin sulfate synthase 1
|
|
CIB2
|
calcium and integrin binding family member 2
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CLCNKA
|
chloride channel, voltage-sensitive Ka
|
|
CLCNKB
|
chloride channel, voltage-sensitive Kb
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
CLPP
|
caseinolytic mitochondrial matrix peptidase proteolytic subunit
|
|
CLRN1
|
clarin 1
|
|
CNGA1
|
cyclic nucleotide gated channel alpha 1
|
|
CNGB1
|
cyclic nucleotide gated channel beta 1
|
|
COA5
|
cytochrome c oxidase assembly factor 5
|
|
COCH
|
cochlin
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL4A3
|
collagen, type IV, alpha 3 (Goodpasture antigen)
|
|
COL4A5
|
collagen, type IV, alpha 5
|
|
COL4A6
|
collagen, type IV, alpha 6
|
|
COL9A1
|
collagen, type IX, alpha 1
|
|
COL9A2
|
collagen, type IX, alpha 2
|
|
COL9A3
|
collagen, type IX, alpha 3
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
COQ6
|
coenzyme Q6 monooxygenase
|
|
COX1
|
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX14
|
COX14 cytochrome c oxidase assembly factor
|
|
COX15
|
cytochrome c oxidase assembly homolog 15 (yeast)
|
|
COX2
|
|
|
COX20
|
COX20 cytochrome c oxidase assembly factor
|
|
COX3
|
|
|
COX6B1
|
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
CRX
|
cone-rod homeobox
|
|
CRYAB
|
crystallin, alpha B
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
CSRP3
|
cysteine and glycine-rich protein 3 (cardiac LIM protein)
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DCHS1
|
dachsous cadherin-related 1
|
|
DDX11
|
DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
|
|
DES
|
desmin
|
|
DFNA5
|
deafness, autosomal dominant 5
|
|
DFNB31
|
deafness, autosomal recessive 31
|
|
DFNB59
|
deafness, autosomal recessive 59
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DHDDS
|
dehydrodolichyl diphosphate synthase
|
|
DIABLO
|
diablo, IAP-binding mitochondrial protein
|
|
DIAPH1
|
diaphanous-related formin 1
|
|
DIAPH3
|
diaphanous-related formin 3
|
|
DLX5
|
distal-less homeobox 5
|
|
DMD
|
dystrophin
|
|
DMP1
|
dentin matrix acidic phosphoprotein 1
|
|
DNASE1L3
|
deoxyribonuclease I-like 3
|
|
DNMT1
|
DNA (cytosine-5-)-methyltransferase 1
|
|
DOLK
|
dolichol kinase
|
|
DSG2
|
desmoglein 2
|
|
DSPP
|
dentin sialophosphoprotein
|
|
DUSP6
|
dual specificity phosphatase 6
|
|
DUX4
|
double homeobox 4
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
ECE1
|
endothelin converting enzyme 1
|
|
EDN3
|
endothelin 3
|
|
EDNRB
|
endothelin receptor type B
|
|
EFNB1
|
ephrin-B1
|
|
EFTUD2
|
elongation factor Tu GTP binding domain containing 2
|
|
ELN
|
elastin
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
EPOR
|
erythropoietin receptor
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC3
|
excision repair cross-complementation group 3
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
ESPN
|
espin
|
|
ESRRB
|
estrogen-related receptor beta
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
EYA4
|
EYA transcriptional coactivator and phosphatase 4
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
FAM161A
|
family with sequence similarity 161, member A
|
|
FAM20C
|
family with sequence similarity 20, member C
|
|
FASTKD2
|
FAST kinase domains 2
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FBN1
|
fibrillin 1
|
|
FBXW4
|
F-box and WD repeat domain containing 4
|
|
FEZF1
|
FEZ family zinc finger 1
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGF17
|
fibroblast growth factor 17
|
|
FGF3
|
fibroblast growth factor 3
|
|
FGF8
|
fibroblast growth factor 8 (androgen-induced)
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FHL2
|
four and a half LIM domains 2
|
|
FKBP14
|
FK506 binding protein 14, 22 kDa
|
|
FKTN
|
fukutin
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
FLRT3
|
fibronectin leucine rich transmembrane protein 3
|
|
FOXC1
|
forkhead box C1
|
|
FOXI1
|
forkhead box I1
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FRG1
|
FSHD region gene 1
|
|
FSCN2
|
fascin actin-bundling protein 2, retinal
|
|
FTO
|
fat mass and obesity associated
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GALE
|
UDP-galactose-4-epimerase
|
|
GATA2
|
GATA binding protein 2
|
|
GATA3
|
GATA binding protein 3
|
|
GATAD1
|
GATA zinc finger domain containing 1
|
|
GCDH
|
glutaryl-CoA dehydrogenase
|
|
GDF5
|
growth differentiation factor 5
|
|
GDF6
|
growth differentiation factor 6
|
|
GDNF
|
glial cell derived neurotrophic factor
|
|
GFER
|
growth factor, augmenter of liver regeneration
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB3
|
gap junction protein, beta 3, 31kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GLA
|
galactosidase, alpha
|
|
GLI3
|
GLI family zinc finger 3
|
|
GLYCTK
|
glycerate kinase
|
|
GMPPA
|
GDP-mannose pyrophosphorylase A
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GPSM2
|
G-protein signaling modulator 2
|
|
GRHL2
|
grainyhead-like 2 (Drosophila)
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
GUCA1B
|
guanylate cyclase activator 1B (retina)
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
HARS
|
histidyl-tRNA synthetase
|
|
HARS2
|
histidyl-tRNA synthetase 2, mitochondrial
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC8
|
histone deacetylase 8
|
|
HESX1
|
HESX homeobox 1
|
|
HGF
|
hepatocyte growth factor (hepapoietin A; scatter factor)
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DPB1
|
major histocompatibility complex, class II, DP beta 1
|
|
HOXA1
|
homeobox A1
|
|
HOXA11
|
homeobox A11
|
|
HOXA2
|
homeobox A2
|
|
HS6ST1
|
heparan sulfate 6-O-sulfotransferase 1
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
IDH3B
|
isocitrate dehydrogenase 3 (NAD+) beta
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IGBP1
|
immunoglobulin (CD79A) binding protein 1
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IL10
|
interleukin 10
|
|
IL12RB2
|
interleukin 12 receptor, beta 2
|
|
IL17RD
|
interleukin 17 receptor D
|
|
IL23R
|
interleukin 23 receptor
|
|
ILDR1
|
immunoglobulin-like domain containing receptor 1
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
IMPG2
|
interphotoreceptor matrix proteoglycan 2
|
|
IRX5
|
iroquois homeobox 5
|
|
JAK2
|
Janus kinase 2
|
|
JUP
|
junction plakoglobin
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
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
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KIF7
|
kinesin family member 7
|
|
KISS1R
|
KISS1 receptor
|
|
KIZ
|
kizuna centrosomal protein
|
|
KLHL7
|
kelch-like family member 7
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
LAMA4
|
laminin, alpha 4
|
|
LARS2
|
leucyl-tRNA synthetase 2, mitochondrial
|
|
LDB3
|
LIM domain binding 3
|
|
LHFPL5
|
lipoma HMGIC fusion partner-like 5
|
|
LHX3
|
LIM homeobox 3
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
|
LRP4
|
low density lipoprotein receptor-related protein 4
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
MAK
|
male germ cell-associated kinase
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MARVELD2
|
MARVEL domain containing 2
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MED12
|
mediator complex subunit 12
|
|
MEFV
|
Mediterranean fever
|
|
MEOX1
|
mesenchyme homeobox 1
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MFN2
|
mitofusin 2
|
|
MGAT2
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
|
|
MIR96
|
microRNA 96
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MOGS
|
mannosyl-oligosaccharide glucosidase
|
|
MPL
|
MPL proto-oncogene, thrombopoietin receptor
|
|
MPZ
|
myelin protein zero
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MT-TF
|
tRNA
|
|
MT-TH
|
tRNA
|
|
MT-TK
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MT-TP
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
MVK
|
mevalonate kinase
|
|
MYBPC3
|
myosin binding protein C, cardiac
|
|
MYD88
|
myeloid differentiation primary response 88
|
|
MYH14
|
myosin, heavy chain 14, non-muscle
|
|
MYH6
|
myosin, heavy chain 6, cardiac muscle, alpha
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
MYO15A
|
myosin XVA
|
|
MYO1A
|
myosin IA
|
|
MYO6
|
myosin VI
|
|
MYO7A
|
myosin VIIA
|
|
MYPN
|
myopalladin
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
ND1
|
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NDUFA1
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
|
|
NDUFA10
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
|
|
NDUFA11
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
|
|
NDUFA12
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
|
|
NDUFA2
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
|
|
NDUFA9
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
|
|
NDUFAF1
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
|
|
NDUFAF2
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
|
|
NDUFAF3
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
|
|
NDUFAF4
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
|
|
NDUFAF5
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
|
|
NDUFAF6
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
|
|
NDUFB3
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
|
|
NDUFB9
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
|
|
NDUFS1
|
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
|
|
NDUFS2
|
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
|
|
NDUFS3
|
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
|
|
NDUFS4
|
NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
|
|
NDUFS6
|
NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
|
|
NDUFS7
|
NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
|
|
NDUFS8
|
NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
|
|
NDUFV1
|
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
|
|
NDUFV2
|
NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
|
|
NEK2
|
NIMA-related kinase 2
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NEXN
|
nexilin (F actin binding protein)
|
|
NF2
|
neurofibromin 2 (merlin)
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NLRP12
|
NLR family, pyrin domain containing 12
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOG
|
noggin
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NRL
|
neural retina leucine zipper
|
|
NRTN
|
neurturin
|
|
NSMF
|
NMDA receptor synaptonuclear signaling and neuronal migration factor
|
|
NUBPL
|
nucleotide binding protein-like
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
ORC1
|
origin recognition complex, subunit 1
|
|
OTOA
|
otoancorin
|
|
OTOF
|
otoferlin
|
|
OTOGL
|
otogelin-like
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PAX1
|
paired box 1
|
|
PAX2
|
paired box 2
|
|
PAX3
|
paired box 3
|
|
PCDH15
|
protocadherin-related 15
|
|
PCNT
|
pericentrin
|
|
PDE6A
|
phosphodiesterase 6A, cGMP-specific, rod, alpha
|
|
PDE6B
|
phosphodiesterase 6B, cGMP-specific, rod, beta
|
|
PDE6G
|
phosphodiesterase 6G, cGMP-specific, rod, gamma
|
|
PDGFB
|
platelet-derived growth factor beta polypeptide
|
|
PDK3
|
pyruvate dehydrogenase kinase, isozyme 3
|
|
PDZD7
|
PDZ domain containing 7
|
|
PET100
|
PET100 homolog (S. cerevisiae)
|
|
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
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PGM3
|
phosphoglucomutase 3
|
|
PHOX2B
|
paired-like homeobox 2b
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PIGV
|
phosphatidylinositol glycan anchor biosynthesis, class V
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PLN
|
phospholamban
|
|
PMP22
|
peripheral myelin protein 22
|
|
PNPLA2
|
patatin-like phospholipase domain containing 2
|
|
POLD1
|
polymerase (DNA directed), delta 1, catalytic subunit
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POMK
|
protein-O-mannose kinase
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
POU3F4
|
POU class 3 homeobox 4
|
|
PRCD
|
progressive rod-cone degeneration
|
|
PRDM16
|
PR domain containing 16
|
|
PRDM5
|
PR domain containing 5
|
|
PROK2
|
prokineticin 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
PROM1
|
prominin 1
|
|
PRPF3
|
pre-mRNA processing factor 3
|
|
PRPF31
|
pre-mRNA processing factor 31
|
|
PRPF4
|
pre-mRNA processing factor 4
|
|
PRPF6
|
pre-mRNA processing factor 6
|
|
PRPF8
|
pre-mRNA processing factor 8
|
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
PRTN3
|
proteinase 3
|
|
PSEN1
|
presenilin 1
|
|
PSEN2
|
presenilin 2
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
PTPRQ
|
protein tyrosine phosphatase, receptor type, Q
|
|
RAB23
|
RAB23, member RAS oncogene family
|
|
RAB40AL
|
RAB40A, member RAS oncogene family-like
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RBM20
|
RNA binding motif protein 20
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RBP3
|
retinol binding protein 3, interstitial
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
RDX
|
radixin
|
|
RET
|
ret proto-oncogene
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RGR
|
retinal G protein coupled receptor
|
|
RHO
|
rhodopsin
|
|
RIT1
|
Ras-like without CAAX 1
|
|
RLBP1
|
retinaldehyde binding protein 1
|
|
RNASET2
|
ribonuclease T2
|
|
RNR1
|
RNA, ribosomal cluster 1
|
|
ROBO3
|
roundabout, axon guidance receptor, homolog 3 (Drosophila)
|
|
ROM1
|
retinal outer segment membrane protein 1
|
|
RP1
|
retinitis pigmentosa 1 (autosomal dominant)
|
|
RP2
|
retinitis pigmentosa 2 (X-linked recessive)
|
|
RP9
|
retinitis pigmentosa 9 (autosomal dominant)
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RYR2
|
ryanodine receptor 2 (cardiac)
|
|
SAG
|
S-antigen; retina and pineal gland (arrestin)
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SBF2
|
SET binding factor 2
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SEMA3A
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
|
SERAC1
|
serine active site containing 1
|
|
SETBP1
|
SET binding protein 1
|
|
SGCD
|
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
|
|
SH2B3
|
SH2B adaptor protein 3
|
|
SHFM1
|
split hand/foot malformation (ectrodactyly) type 1
|
|
SIX1
|
SIX homeobox 1
|
|
SIX5
|
SIX homeobox 5
|
|
SKI
|
SKI proto-oncogene
|
|
SLC17A8
|
solute carrier family 17 (vesicular glutamate transporter), member 8
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
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
|
|
SLC4A11
|
solute carrier family 4, sodium borate transporter, member 11
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLC7A14
|
solute carrier family 7, member 14
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SMCHD1
|
structural maintenance of chromosomes flexible hinge domain containing 1
|
|
SMPX
|
small muscle protein, X-linked
|
|
SNAI2
|
snail family zinc finger 2
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
SNRNP200
|
small nuclear ribonucleoprotein 200kDa (U5)
|
|
SOS1
|
son of sevenless homolog 1 (Drosophila)
|
|
SOST
|
sclerostin
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
SPATA7
|
spermatogenesis associated 7
|
|
SPRY4
|
sprouty homolog 4 (Drosophila)
|
|
SPTLC1
|
serine palmitoyltransferase, long chain base subunit 1
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
STRC
|
stereocilin
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
SURF1
|
surfeit 1
|
|
SYNE4
|
spectrin repeat containing, nuclear envelope family member 4
|
|
TACO1
|
translational activator of mitochondrially encoded cytochrome c oxidase I
|
|
TACR3
|
tachykinin receptor 3
|
|
TAZ
|
tafazzin
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX22
|
T-box 22
|
|
TCAP
|
titin-cap
|
|
TECTA
|
tectorin alpha
|
|
TET2
|
tet methylcytosine dioxygenase 2
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
THPO
|
thrombopoietin
|
|
THRB
|
thyroid hormone receptor, beta
|
|
TIMM8A
|
translocase of inner mitochondrial membrane 8 homolog A (yeast)
|
|
TLR4
|
toll-like receptor 4
|
|
TMC1
|
transmembrane channel-like 1
|
|
TMPO
|
thymopoietin
|
|
TMPRSS3
|
transmembrane protease, serine 3
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
TNNC1
|
troponin C type 1 (slow)
|
|
TNNI3
|
troponin I type 3 (cardiac)
|
|
TNNT2
|
troponin T type 2 (cardiac)
|
|
TNXB
|
tenascin XB
|
|
TOPORS
|
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
|
|
TP63
|
tumor protein p63
|
|
TPK1
|
thiamin pyrophosphokinase 1
|
|
TPM1
|
tropomyosin 1 (alpha)
|
|
TPRN
|
taperin
|
|
TRDN
|
triadin
|
|
TRIOBP
|
TRIO and F-actin binding protein
|
|
TRNE
|
|
|
TRPV3
|
transient receptor potential cation channel, subfamily V, member 3
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TSPEAR
|
thrombospondin-type laminin G domain and EAR repeats
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TTN
|
titin
|
|
TUB
|
tubby bipartite transcription factor
|
|
TULP1
|
tubby like protein 1
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
TXNRD2
|
thioredoxin reductase 2
|
|
TYMP
|
thymidine phosphorylase
|
|
TYR
|
tyrosinase
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
USH1C
|
Usher syndrome 1C (autosomal recessive, severe)
|
|
USH1G
|
Usher syndrome 1G (autosomal recessive)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VCL
|
vinculin
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VIPAS39
|
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
VPS33B
|
vacuolar protein sorting 33 homolog B (yeast)
|
|
WDR11
|
WD repeat domain 11
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WNT10B
|
wingless-type MMTV integration site family, member 10B
|
|
XPA
|
xeroderma pigmentosum, complementation group A
|
|
XPNPEP3
|
X-prolyl aminopeptidase 3, mitochondrial
|
|
YAP1
|
Yes-associated protein 1
|
|
ZNF469
|
zinc finger protein 469
|
|
ZNF513
|
zinc finger protein 513
|
