| Symbol |
Name |
|
ABCA1
|
ATP-binding cassette, sub-family A (ABC1), member 1
|
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
AIMP1
|
aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
|
|
AIPL1
|
aryl hydrocarbon receptor interacting protein-like 1
|
|
ALAD
|
aminolevulinate dehydratase
|
|
ALDH3A2
|
aldehyde dehydrogenase 3 family, member A2
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
ANOS1
|
anosmin 1
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
APOA1
|
apolipoprotein A-I
|
|
ARFGEF2
|
ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
|
|
ARG1
|
arginase 1
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ARSA
|
arylsulfatase A
|
|
ARX
|
aristaless related homeobox
|
|
ATL1
|
atlastin GTPase 1
|
|
ATP13A2
|
ATPase type 13A2
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATP8A2
|
ATPase, aminophospholipid transporter, class I, type 8A, member 2
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
AUH
|
AU RNA binding protein/enoyl-CoA hydratase
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
BCAP31
|
B-cell receptor-associated protein 31
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CA8
|
carbonic anhydrase VIII
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CBS
|
cystathionine-beta-synthase
|
|
CCT5
|
chaperonin containing TCP1, subunit 5 (epsilon)
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CLPP
|
caseinolytic mitochondrial matrix peptidase proteolytic subunit
|
|
COASY
|
CoA synthase
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COL4A2
|
collagen, type IV, alpha 2
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CPT1A
|
carnitine palmitoyltransferase 1A (liver)
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRX
|
cone-rod homeobox
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CYP2U1
|
cytochrome P450, family 2, subfamily U, polypeptide 1
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DDHD1
|
DDHD domain containing 1
|
|
DDHD2
|
DDHD domain containing 2
|
|
DNASE1L3
|
deoxyribonuclease I-like 3
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
DOCK8
|
dedicator of cytokinesis 8
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
DUSP6
|
dual specificity phosphatase 6
|
|
EDNRB
|
endothelin receptor type B
|
|
EMX2
|
empty spiracles homeobox 2
|
|
EOGT
|
EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
|
|
ERLIN2
|
ER lipid raft associated 2
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EXT2
|
exostosin glycosyltransferase 2
|
|
FEZF1
|
FEZ family zinc finger 1
|
|
FGF17
|
fibroblast growth factor 17
|
|
FGF8
|
fibroblast growth factor 8 (androgen-induced)
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLRT3
|
fibronectin leucine rich transmembrane protein 3
|
|
FOXG1
|
forkhead box G1
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GAN
|
gigaxonin
|
|
GBA
|
glucosidase, beta, acid
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GCDH
|
glutaryl-CoA dehydrogenase
|
|
GDF3
|
growth differentiation factor 3
|
|
GDF6
|
growth differentiation factor 6
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GUCY1A3
|
guanylate cyclase 1, soluble, alpha 3
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
HARS2
|
histidyl-tRNA synthetase 2, mitochondrial
|
|
HESX1
|
HESX homeobox 1
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DPB1
|
major histocompatibility complex, class II, DP beta 1
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HS6ST1
|
heparan sulfate 6-O-sulfotransferase 1
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HSPD1
|
heat shock 60kDa protein 1 (chaperonin)
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IL10
|
interleukin 10
|
|
IL12RB2
|
interleukin 12 receptor, beta 2
|
|
IL17RD
|
interleukin 17 receptor D
|
|
IL23R
|
interleukin 23 receptor
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
IQCB1
|
IQ motif containing B1
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNJ13
|
potassium channel, inwardly rectifying subfamily J, member 13
|
|
KCNT1
|
potassium channel, sodium activated subfamily T, member 1
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KIAA0196
|
KIAA0196
|
|
KISS1R
|
KISS1 receptor
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
LAMB2
|
laminin, beta 2 (laminin S)
|
|
LARGE
|
like-glycosyltransferase
|
|
LARS2
|
leucyl-tRNA synthetase 2, mitochondrial
|
|
LCA5
|
Leber congenital amaurosis 5
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MEFV
|
Mediterranean fever
|
|
MEOX1
|
mesenchyme homeobox 1
|
|
MLH1
|
mutL homolog 1
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MT-ATP8
|
ATP synthase F0 subunit 8
|
|
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-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
MTPAP
|
mitochondrial poly(A) polymerase
|
|
MUT
|
methylmalonyl CoA mutase
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
ND1
|
|
|
NF1
|
neurofibromin 1
|
|
NIPA1
|
non imprinted in Prader-Willi/Angelman syndrome 1
|
|
NMNAT1
|
nicotinamide nucleotide adenylyltransferase 1
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOTCH1
|
notch 1
|
|
NOTCH3
|
notch 3
|
|
NSMF
|
NMDA receptor synaptonuclear signaling and neuronal migration factor
|
|
NTNG1
|
netrin G1
|
|
OPA3
|
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PAH
|
phenylalanine hydroxylase
|
|
PAX3
|
paired box 3
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PDHX
|
pyruvate dehydrogenase complex, component X
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PLP1
|
proteolipid protein 1
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PNP
|
purine nucleoside phosphorylase
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PRDM16
|
PR domain containing 16
|
|
PRF1
|
perforin 1 (pore forming protein)
|
|
PRNP
|
prion protein
|
|
PROK2
|
prokineticin 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
PRTN3
|
proteinase 3
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
RANBP2
|
RAN binding protein 2
|
|
RASA1
|
RAS p21 protein activator (GTPase activating protein) 1
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
RD3
|
retinal degeneration 3
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
REEP1
|
receptor accessory protein 1
|
|
RNASEH2A
|
ribonuclease H2, subunit A
|
|
RNASEH2B
|
ribonuclease H2, subunit B
|
|
RNASEH2C
|
ribonuclease H2, subunit C
|
|
RNF216
|
ring finger protein 216
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
RTN2
|
reticulon 2
|
|
SAMHD1
|
SAM domain and HD domain 1
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SEMA3A
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
|
|
SHH
|
sonic hedgehog
|
|
SIX3
|
SIX homeobox 3
|
|
SKI
|
SKI proto-oncogene
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC19A3
|
solute carrier family 19 (thiamine transporter), member 3
|
|
SLC1A3
|
solute carrier family 1 (glial high affinity glutamate transporter), member 3
|
|
SLC25A15
|
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC30A10
|
solute carrier family 30, member 10
|
|
SLC33A1
|
solute carrier family 33 (acetyl-CoA transporter), member 1
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
SPAST
|
spastin
|
|
SPATA7
|
spermatogenesis associated 7
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG20
|
spastic paraplegia 20 (Troyer syndrome)
|
|
SPG21
|
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SPRY4
|
sprouty homolog 4 (Drosophila)
|
|
SQSTM1
|
sequestosome 1
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
STXBP1
|
syntaxin binding protein 1
|
|
SUOX
|
sulfite oxidase
|
|
TACR3
|
tachykinin receptor 3
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TFG
|
TRK-fused gene
|
|
TLR4
|
toll-like receptor 4
|
|
TNFRSF11A
|
tumor necrosis factor receptor superfamily, member 11a, NFKB activator
|
|
TP53
|
tumor protein p53
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TSC1
|
tuberous sclerosis 1
|
|
TTC19
|
tetratricopeptide repeat domain 19
|
|
TTPA
|
tocopherol (alpha) transfer protein
|
|
TTR
|
transthyretin
|
|
TUBB2B
|
tubulin, beta 2B class IIb
|
|
TULP1
|
tubby like protein 1
|
|
VAMP1
|
vesicle-associated membrane protein 1 (synaptobrevin 1)
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VLDLR
|
very low density lipoprotein receptor
|
|
WDR11
|
WD repeat domain 11
|
|
WDR45
|
WD repeat domain 45
|
|
WDR62
|
WD repeat domain 62
|
|
WDR81
|
WD repeat domain 81
|
|
ZFP90
|
ZFP90 zinc finger protein
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
