| Symbol |
Name |
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
|
ACSL4
|
acyl-CoA synthetase long-chain family member 4
|
|
ADAMTS10
|
ADAM metallopeptidase with thrombospondin type 1 motif, 10
|
|
ADAMTS2
|
ADAM metallopeptidase with thrombospondin type 1 motif, 2
|
|
ADAMTSL4
|
ADAMTS-like 4
|
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
AGK
|
acylglycerol kinase
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALDH18A1
|
aldehyde dehydrogenase 18 family, member A1
|
|
ALDH3A2
|
aldehyde dehydrogenase 3 family, member A2
|
|
AMMECR1
|
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ANTXR1
|
anthrax toxin receptor 1
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BBS1
|
Bardet-Biedl syndrome 1
|
|
BBS10
|
Bardet-Biedl syndrome 10
|
|
BBS12
|
Bardet-Biedl syndrome 12
|
|
BBS2
|
Bardet-Biedl syndrome 2
|
|
BBS4
|
Bardet-Biedl syndrome 4
|
|
BBS5
|
Bardet-Biedl syndrome 5
|
|
BBS7
|
Bardet-Biedl syndrome 7
|
|
BBS9
|
Bardet-Biedl syndrome 9
|
|
BFSP2
|
beaded filament structural protein 2, phakinin
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BTD
|
biotinidase
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CASK
|
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
|
|
CBS
|
cystathionine-beta-synthase
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CHM
|
choroideremia (Rab escort protein 1)
|
|
CHMP1A
|
charged multivesicular body protein 1A
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
CLDN16
|
claudin 16
|
|
CLDN19
|
claudin 19
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
CNGB3
|
cyclic nucleotide gated channel beta 3
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL18A1
|
collagen, type XVIII, alpha 1
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL4A3
|
collagen, type IV, alpha 3 (Goodpasture antigen)
|
|
COL4A4
|
collagen, type IV, alpha 4
|
|
COL4A5
|
collagen, type IV, alpha 5
|
|
COL5A1
|
collagen, type V, alpha 1
|
|
COL5A2
|
collagen, type V, alpha 2
|
|
COL9A1
|
collagen, type IX, alpha 1
|
|
COL9A2
|
collagen, type IX, alpha 2
|
|
COL9A3
|
collagen, type IX, alpha 3
|
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
|
CRYAA
|
crystallin, alpha A
|
|
CRYBA2
|
crystallin, beta A2
|
|
CRYBA4
|
crystallin, beta A4
|
|
CRYBB1
|
crystallin, beta B1
|
|
CRYBB2
|
crystallin, beta B2
|
|
CRYGC
|
crystallin, gamma C
|
|
CRYGD
|
crystallin, gamma D
|
|
DFNB31
|
deafness, autosomal recessive 31
|
|
ELN
|
elastin
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
EPHA2
|
EPH receptor A2
|
|
ERBB3
|
erb-b2 receptor tyrosine kinase 3
|
|
FAM58A
|
family with sequence similarity 58, member A
|
|
FBN1
|
fibrillin 1
|
|
FBN2
|
fibrillin 2
|
|
FKBP14
|
FK506 binding protein 14, 22 kDa
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJA8
|
gap junction protein, alpha 8, 50kDa
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GNPTG
|
N-acetylglucosamine-1-phosphate transferase, gamma subunit
|
|
GPR143
|
G protein-coupled receptor 143
|
|
GRM6
|
glutamate receptor, metabotropic 6
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HDAC8
|
histone deacetylase 8
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IFT122
|
intraflagellar transport 122
|
|
IFT27
|
intraflagellar transport 27
|
|
IFT43
|
intraflagellar transport 43
|
|
IKBKAP
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
|
IRX5
|
iroquois homeobox 5
|
|
JAG1
|
jagged 1
|
|
KCNE5
|
potassium channel, voltage gated subfamily E regulatory beta subunit 5
|
|
KCNV2
|
potassium channel, voltage gated modifier subfamily V, member 2
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KIF11
|
kinesin family member 11
|
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LAMA1
|
laminin, alpha 1
|
|
LAMB2
|
laminin, beta 2 (laminin S)
|
|
LARGE
|
like-glycosyltransferase
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LIMK1
|
LIM domain kinase 1
|
|
LRIT3
|
leucine-rich repeat, immunoglobulin-like and transmembrane domains 3
|
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
|
LTBP2
|
latent transforming growth factor beta binding protein 2
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAF
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
|
|
MAGEL2
|
melanoma antigen family L2
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MSX2
|
msh homeobox 2
|
|
MYO5A
|
myosin VA (heavy chain 12, myoxin)
|
|
MYO7A
|
myosin VIIA
|
|
MYOC
|
myocilin, trabecular meshwork inducible glucocorticoid response
|
|
NBAS
|
neuroblastoma amplified sequence
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NOTCH2
|
notch 2
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
NT5C2
|
5'-nucleotidase, cytosolic II
|
|
NYX
|
nyctalopin
|
|
OAT
|
ornithine aminotransferase
|
|
OPN1LW
|
opsin 1 (cone pigments), long-wave-sensitive
|
|
OPN1MW
|
opsin 1 (cone pigments), medium-wave-sensitive
|
|
OPTN
|
optineurin
|
|
P3H2
|
prolyl 3-hydroxylase 2
|
|
PAX2
|
paired box 2
|
|
PCYT1A
|
phosphate cytidylyltransferase 1, choline, alpha
|
|
PDZD7
|
PDZ domain containing 7
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
PLOD3
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PRDM5
|
PR domain containing 5
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RAB28
|
RAB28, member RAS oncogene family
|
|
RAB40AL
|
RAB40A, member RAS oncogene family-like
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAI1
|
retinoic acid induced 1
|
|
RECQL4
|
RecQ protein-like 4
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RP2
|
retinitis pigmentosa 2 (X-linked recessive)
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
SAT1
|
spermidine/spermine N1-acetyltransferase 1
|
|
SCO2
|
SCO2 cytochrome c oxidase assembly protein
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SH2B1
|
SH2B adaptor protein 1
|
|
SIM1
|
single-minded family bHLH transcription factor 1
|
|
SKI
|
SKI proto-oncogene
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
SLC2A10
|
solute carrier family 2 (facilitated glucose transporter), member 10
|
|
SLC39A5
|
solute carrier family 39 (zinc transporter), member 5
|
|
SLCO5A1
|
solute carrier organic anion transporter family, member 5A1
|
|
SLITRK6
|
SLIT and NTRK-like family, member 6
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SMS
|
spermine synthase
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SULF1
|
sulfatase 1
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBC1D7
|
TBC1 domain family, member 7
|
|
TBL2
|
transducin (beta)-like 2
|
|
TCF4
|
transcription factor 4
|
|
TEAD1
|
TEA domain family member 1 (SV40 transcriptional enhancer factor)
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TFAP2B
|
transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
|
|
THOC6
|
THO complex 6
|
|
TIMM8A
|
translocase of inner mitochondrial membrane 8 homolog A (yeast)
|
|
TRAPPC11
|
trafficking protein particle complex 11
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRPM1
|
transient receptor potential cation channel, subfamily M, member 1
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TULP1
|
tubby like protein 1
|
|
TYR
|
tyrosinase
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UBE3B
|
ubiquitin protein ligase E3B
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VCAN
|
versican
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR19
|
WD repeat domain 19
|
|
WDR35
|
WD repeat domain 35
|
|
ZNF469
|
zinc finger protein 469
|
|
ZNF644
|
zinc finger protein 644
|
|
ZSWIM6
|
zinc finger, SWIM-type containing 6
|
