| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ADAM9
|
ADAM metallopeptidase domain 9
|
|
ADIPOQ
|
adiponectin, C1Q and collagen domain containing
|
|
AHI1
|
Abelson helper integration site 1
|
|
AIRE
|
autoimmune regulator
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ANO5
|
anoctamin 5
|
|
ATP2A1
|
ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B4GALNT2
|
beta-1,4-N-acetyl-galactosaminyl transferase 2
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BCL2
|
B-cell CLL/lymphoma 2
|
|
BCLAF1
|
BCL2-associated transcription factor 1
|
|
BEST1
|
bestrophin 1
|
|
BIN1
|
bridging integrator 1
|
|
BIRC5
|
baculoviral IAP repeat containing 5
|
|
C8ORF37
|
chromosome 8 open reading frame 37
|
|
CA4
|
carbonic anhydrase IV
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CACNA1S
|
calcium channel, voltage-dependent, L type, alpha 1S subunit
|
|
CAPN1
|
calpain 1, (mu/I) large subunit
|
|
CAPN2
|
calpain 2, (m/II) large subunit
|
|
CAPN3
|
calpain 3, (p94)
|
|
CAT
|
catalase
|
|
CAV3
|
caveolin 3
|
|
CCND3
|
cyclin D3
|
|
CDC42BPA
|
CDC42 binding protein kinase alpha (DMPK-like)
|
|
CDC42BPB
|
CDC42 binding protein kinase beta (DMPK-like)
|
|
CDH3
|
cadherin 3, type 1, P-cadherin (placental)
|
|
CDHR1
|
cadherin-related family member 1
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CELF1
|
CUGBP, Elav-like family member 1
|
|
CELF2
|
CUGBP, Elav-like family member 2
|
|
CFLAR
|
CASP8 and FADD-like apoptosis regulator
|
|
CHED1
|
corneal endothelial dystrophy 1 (autosomal dominant)
|
|
CHKB
|
choline kinase beta
|
|
CHM
|
choroideremia (Rab escort protein 1)
|
|
CHST6
|
carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
CLU
|
clusterin
|
|
CMD1B
|
cardiomyopathy, dilated 1B (autosomal dominant)
|
|
CNBP
|
CCHC-type zinc finger, nucleic acid binding protein
|
|
CNGB3
|
cyclic nucleotide gated channel beta 3
|
|
CNNM4
|
cyclin and CBS domain divalent metal cation transport mediator 4
|
|
COL17A1
|
collagen, type XVII, alpha 1
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
COL8A1
|
collagen, type VIII, alpha 1
|
|
COL8A2
|
collagen, type VIII, alpha 2
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRX
|
cone-rod homeobox
|
|
CRYM
|
crystallin, mu
|
|
CTCF
|
CCCTC-binding factor (zinc finger protein)
|
|
CTGF
|
connective tissue growth factor
|
|
CYP4F22
|
cytochrome P450, family 4, subfamily F, polypeptide 22
|
|
CYP4V2
|
cytochrome P450, family 4, subfamily V, polypeptide 2
|
|
DAG1
|
dystroglycan 1 (dystrophin-associated glycoprotein 1)
|
|
DCN
|
decorin
|
|
DMD
|
dystrophin
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DNAJA1
|
DnaJ (Hsp40) homolog, subfamily A, member 1
|
|
DNAJB6
|
DnaJ (Hsp40) homolog, subfamily B, member 6
|
|
DOK7
|
docking protein 7
|
|
DTNA
|
dystrobrevin, alpha
|
|
DTNBP1
|
dystrobrevin binding protein 1
|
|
DUX4
|
double homeobox 4
|
|
DUX4L1
|
double homeobox 4 like 1
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
DYSF
|
dysferlin
|
|
EDN3
|
endothelin 3
|
|
EFEMP1
|
EGF containing fibulin-like extracellular matrix protein 1
|
|
EGFLAM
|
EGF-like, fibronectin type III and laminin G domains
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
EMD
|
emerin
|
|
EPYC
|
epiphycan
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
FAT1
|
FAT atypical cadherin 1
|
|
FBLN1
|
fibulin 1
|
|
FHL1
|
four and a half LIM domains 1
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLNA
|
filamin A, alpha
|
|
FN1
|
fibronectin 1
|
|
FRG1
|
FSHD region gene 1
|
|
FRG2
|
FSHD region gene 2
|
|
FSHMD1A
|
facioscapulohumeral muscular dystrophy 1A
|
|
FST
|
follistatin
|
|
FXR1
|
fragile X mental retardation, autosomal homolog 1
|
|
GGT1
|
gamma-glutamyltransferase 1
|
|
GPC1
|
glypican 1
|
|
GSK3B
|
glycogen synthase kinase 3 beta
|
|
GSS
|
glutathione synthetase
|
|
GUCA1A
|
guanylate cyclase activator 1A (retina)
|
|
GUCA1B
|
guanylate cyclase activator 1B (retina)
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
HLA-A
|
major histocompatibility complex, class I, A
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HMX1
|
H6 family homeobox 1
|
|
HNRNPA1
|
heterogeneous nuclear ribonucleoprotein A1
|
|
HNRNPA2B1
|
heterogeneous nuclear ribonucleoprotein A2/B1
|
|
HNRNPDL
|
heterogeneous nuclear ribonucleoprotein D-like
|
|
HSP90AA1
|
heat shock protein 90kDa alpha (cytosolic), class A member 1
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
HTRA1
|
HtrA serine peptidase 1
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT172
|
intraflagellar transport 172
|
|
IFT80
|
intraflagellar transport 80
|
|
IL17A
|
interleukin 17A
|
|
IL7
|
interleukin 7
|
|
IMPG1
|
interphotoreceptor matrix proteoglycan 1
|
|
IMPG2
|
interphotoreceptor matrix proteoglycan 2
|
|
INSR
|
insulin receptor
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
ITIH4
|
inter-alpha-trypsin inhibitor heavy chain family, member 4
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
KCNV2
|
potassium channel, voltage gated modifier subfamily V, member 2
|
|
KERA
|
keratocan
|
|
KRT12
|
keratin 12, type I
|
|
KRT3
|
keratin 3, type II
|
|
LAMA2
|
laminin, alpha 2
|
|
LDB3
|
LIM domain binding 3
|
|
LEP
|
leptin
|
|
LMNA
|
lamin A/C
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LTBP4
|
latent transforming growth factor beta binding protein 4
|
|
LUM
|
lumican
|
|
MAPT
|
microtubule-associated protein tau
|
|
MATR3
|
matrin 3
|
|
MBNL1
|
muscleblind-like splicing regulator 1
|
|
MBNL2
|
muscleblind-like splicing regulator 2
|
|
MCDR3
|
macular dystrophy, retinal 3
|
|
MEF2C
|
myocyte enhancer factor 2C
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MFRP
|
membrane frizzled-related protein
|
|
MFSD8
|
major facilitator superfamily domain containing 8
|
|
MIR1-1
|
microRNA 1-1
|
|
MIR1-2
|
microRNA 1-2
|
|
MIR206
|
microRNA 206
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MSTN
|
myostatin
|
|
MT-ND3
|
NADH dehydrogenase, subunit 3 (complex I)
|
|
MT-TL1
|
tRNA
|
|
MTMR1
|
myotubularin related protein 1
|
|
MTOR
|
mechanistic target of rapamycin (serine/threonine kinase)
|
|
MUC1
|
mucin 1, cell surface associated
|
|
MYF5
|
myogenic factor 5
|
|
MYH14
|
myosin, heavy chain 14, non-muscle
|
|
MYOT
|
myotilin
|
|
NEDD4
|
neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase
|
|
NEWENTRY
|
Record to support submission of GeneRIFs for a gene not in Gene (human; man).
|
|
NFE2L2
|
nuclear factor, erythroid 2-like 2
|
|
NFKB1
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
|
|
NMNAT1
|
nicotinamide nucleotide adenylyltransferase 1
|
|
NOTCH1
|
notch 1
|
|
NR3C1
|
nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
|
|
OBSL1
|
obscurin-like 1
|
|
OPN1LW
|
opsin 1 (cone pigments), long-wave-sensitive
|
|
OPN1MW
|
opsin 1 (cone pigments), medium-wave-sensitive
|
|
ORAI1
|
ORAI calcium release-activated calcium modulator 1
|
|
PABPC1P2
|
poly(A) binding protein, cytoplasmic 1 pseudogene 2
|
|
PABPN1
|
poly(A) binding protein, nuclear 1
|
|
PAMR1
|
peptidase domain containing associated with muscle regeneration 1
|
|
PARK7
|
parkinson protein 7
|
|
PARP1
|
poly (ADP-ribose) polymerase 1
|
|
PCYT1A
|
phosphate cytidylyltransferase 1, choline, alpha
|
|
PDE6H
|
phosphodiesterase 6H, cGMP-specific, cone, gamma
|
|
PDLIM3
|
PDZ and LIM domain 3
|
|
PIKFYVE
|
phosphoinositide kinase, FYVE finger containing
|
|
PITPNM3
|
PITPNM family member 3
|
|
PITX2
|
paired-like homeodomain 2
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLCB1
|
phospholipase C, beta 1 (phosphoinositide-specific)
|
|
PLEC
|
plectin
|
|
POC1B
|
POC1 centriolar protein B
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMK
|
protein-O-mannose kinase
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PROM1
|
prominin 1
|
|
PRPF31
|
pre-mRNA processing factor 31
|
|
PRPH
|
peripherin
|
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
|
PSAP
|
prosaposin
|
|
PTRF
|
polymerase I and transcript release factor
|
|
RAB27A
|
RAB27A, member RAS oncogene family
|
|
RAB28
|
RAB28, member RAS oncogene family
|
|
RAD51
|
RAD51 recombinase
|
|
RD3
|
retinal degeneration 3
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
RDH5
|
retinol dehydrogenase 5 (11-cis/9-cis)
|
|
RLBP1
|
retinaldehyde binding protein 1
|
|
ROM1
|
retinal outer segment membrane protein 1
|
|
RP1
|
retinitis pigmentosa 1 (autosomal dominant)
|
|
RP1L1
|
retinitis pigmentosa 1-like 1
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SDC3
|
syndecan 3
|
|
SEPN1
|
selenoprotein N, 1
|
|
SGCA
|
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
|
|
SGCB
|
sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
|
|
SGCD
|
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
|
|
SGCG
|
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
SLC4A11
|
solute carrier family 4, sodium borate transporter, member 11
|
|
SMCHD1
|
structural maintenance of chromosomes flexible hinge domain containing 1
|
|
SMG8
|
SMG8 nonsense mediated mRNA decay factor
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SNTA1
|
syntrophin, alpha 1
|
|
SPATA18
|
spermatogenesis associated 18
|
|
SPATA7
|
spermatogenesis associated 7
|
|
SPP1
|
secreted phosphoprotein 1
|
|
SSPN
|
sarcospan
|
|
STIM1
|
stromal interaction molecule 1
|
|
STS
|
steroid sulfatase (microsomal), isozyme S
|
|
SYNC
|
syncoilin, intermediate filament protein
|
|
SYNE1
|
spectrin repeat containing, nuclear envelope 1
|
|
SYNE2
|
spectrin repeat containing, nuclear envelope 2
|
|
SYNM
|
synemin, intermediate filament protein
|
|
SYTL2
|
synaptotagmin-like 2
|
|
TACSTD2
|
tumor-associated calcium signal transducer 2
|
|
TCAP
|
titin-cap
|
|
TCF4
|
transcription factor 4
|
|
TERF1
|
telomeric repeat binding factor (NIMA-interacting) 1
|
|
TF
|
transferrin
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGFBI
|
transforming growth factor, beta-induced, 68kDa
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TGM2
|
transglutaminase 2
|
|
TIMP1
|
TIMP metallopeptidase inhibitor 1
|
|
TIMP2
|
TIMP metallopeptidase inhibitor 2
|
|
TIMP3
|
TIMP metallopeptidase inhibitor 3
|
|
TMEM107
|
transmembrane protein 107
|
|
TNF
|
tumor necrosis factor
|
|
TNNT1
|
troponin T type 1 (skeletal, slow)
|
|
TNNT3
|
troponin T type 3 (skeletal, fast)
|
|
TNPO3
|
transportin 3
|
|
TP53
|
tumor protein p53
|
|
TP63
|
tumor protein p63
|
|
TPM3
|
tropomyosin 3
|
|
TRAPPC11
|
trafficking protein particle complex 11
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRPV2
|
transient receptor potential cation channel, subfamily V, member 2
|
|
TTLL5
|
tubulin tyrosine ligase-like family member 5
|
|
TTN
|
titin
|
|
TXN
|
thioredoxin
|
|
UBIAD1
|
UbiA prenyltransferase domain containing 1
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
UTRN
|
utrophin
|
|
VCP
|
valosin containing protein
|
|
VEGFA
|
vascular endothelial growth factor A
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
VSX1
|
visual system homeobox 1
|
|
VSX2
|
visual system homeobox 2
|
|
VWF
|
von Willebrand factor
|
|
WDR34
|
WD repeat domain 34
|
|
YTHDC1
|
YTH domain containing 1
|
|
ZEB1
|
zinc finger E-box binding homeobox 1
|
|
ZNF674
|
zinc finger protein 674
|
