| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
AARS1
|
alanyl-tRNA synthetase 1
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AGRN
|
agrin
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
ALDH18A1
|
aldehyde dehydrogenase 18 family, member A1
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
AMMECR1
|
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
|
|
ANO10
|
anoctamin 10
|
|
ANOS1
|
anosmin 1
|
|
APTX
|
aprataxin
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATL1
|
atlastin GTPase 1
|
|
ATP1A1
|
ATPase, Na+/K+ transporting, alpha 1 polypeptide
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATP6V1B2
|
ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATR
|
ATR serine/threonine kinase
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
B3GAT3
|
beta-1,3-glucuronyltransferase 3
|
|
B3GLCT
|
beta 3-glucosyltransferase
|
|
B4GALNT1
|
beta-1,4-N-acetyl-galactosaminyl transferase 1
|
|
B9D1
|
B9 protein domain 1
|
|
B9D2
|
B9 protein domain 2
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BBS1
|
Bardet-Biedl syndrome 1
|
|
BIN1
|
bridging integrator 1
|
|
BMPR1B
|
bone morphogenetic protein receptor, type IB
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
CAPN1
|
calpain 1, (mu/I) large subunit
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CAV3
|
caveolin 3
|
|
CAVIN1
|
caveolae associated protein 1
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCDC141
|
coiled-coil domain containing 141
|
|
CCDC28B
|
coiled-coil domain containing 28B
|
|
CD96
|
CD96 molecule
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP55
|
centrosomal protein 55kDa
|
|
CHAT
|
choline O-acetyltransferase
|
|
CHCHD10
|
coiled-coil-helix-coiled-coil-helix domain containing 10
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHMP1A
|
charged multivesicular body protein 1A
|
|
CHP1
|
calcineurin-like EF-hand protein 1
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
COA7
|
cytochrome c oxidase assembly factor 7 (putative)
|
|
COL13A1
|
collagen, type XIII, alpha 1
|
|
COQ8A
|
coenzyme Q8A
|
|
COX6A1
|
cytochrome c oxidase subunit VIa polypeptide 1
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
CUL4B
|
cullin 4B
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DCAF8
|
DDB1 and CUL4 associated factor 8
|
|
DCC
|
DCC netrin 1 receptor
|
|
DDHD1
|
DDHD domain containing 1
|
|
DHCR24
|
24-dehydrocholesterol reductase
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DHH
|
desert hedgehog
|
|
DLL4
|
delta-like 4 (Drosophila)
|
|
DNAJC6
|
DnaJ (Hsp40) homolog, subfamily C, member 6
|
|
DNM1L
|
dynamin 1-like
|
|
DNM2
|
dynamin 2
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
DUSP6
|
dual specificity phosphatase 6
|
|
DYM
|
dymeclin
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
DYSF
|
dysferlin
|
|
EED
|
embryonic ectoderm development
|
|
EGR2
|
early growth response 2
|
|
EOGT
|
EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC5
|
excision repair cross-complementation group 5
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERLIN2
|
ER lipid raft associated 2
|
|
ERMARD
|
ER membrane-associated RNA degradation
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FBLN5
|
fibulin 5
|
|
FBN1
|
fibrillin 1
|
|
FDX2
|
ferredoxin 2
|
|
FEZF1
|
FEZ family zinc finger 1
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGD4
|
FYVE, RhoGEF and PH domain containing 4
|
|
FGF14
|
fibroblast growth factor 14
|
|
FGF17
|
fibroblast growth factor 17
|
|
FGF8
|
fibroblast growth factor 8 (androgen-induced)
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FKBP10
|
FK506 binding protein 10, 65 kDa
|
|
FLI1
|
Fli-1 proto-oncogene, ETS transcription factor
|
|
FLNB
|
filamin B, beta
|
|
FLRT1
|
fibronectin leucine rich transmembrane protein 1
|
|
FLRT3
|
fibronectin leucine rich transmembrane protein 3
|
|
FOS
|
FBJ murine osteosarcoma viral oncogene homolog
|
|
FXN
|
frataxin
|
|
GAN
|
gigaxonin
|
|
GARS
|
glycyl-tRNA synthetase
|
|
GBA
|
glucosidase, beta, acid
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GDF5
|
growth differentiation factor 5
|
|
GDF6
|
growth differentiation factor 6
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GLI3
|
GLI family zinc finger 3
|
|
GMPPA
|
GDP-mannose pyrophosphorylase A
|
|
GNB4
|
guanine nucleotide binding protein (G protein), beta polypeptide 4
|
|
GORAB
|
golgin, RAB6-interacting
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GPR101
|
G protein-coupled receptor 101
|
|
GRIN2A
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2A
|
|
HAAO
|
3-hydroxyanthranilate 3,4-dioxygenase
|
|
HADHA
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
|
|
HADHB
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
|
|
HARS1
|
histidyl-tRNA synthetase 1
|
|
HDAC8
|
histone deacetylase 8
|
|
HESX1
|
HESX homeobox 1
|
|
HINT1
|
histidine triad nucleotide binding protein 1
|
|
HOXD10
|
homeobox D10
|
|
HS6ST1
|
heparan sulfate 6-O-sulfotransferase 1
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
HSPB8
|
heat shock 22kDa protein 8
|
|
HSPD1
|
heat shock 60kDa protein 1 (chaperonin)
|
|
IBA57
|
IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
|
|
IDS
|
iduronate 2-sulfatase
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IFRD1
|
interferon-related developmental regulator 1
|
|
IL17RD
|
interleukin 17 receptor D
|
|
INF2
|
inverted formin, FH2 and WH2 domain containing
|
|
IQSEC2
|
IQ motif and Sec7 domain 2
|
|
KARS1
|
lysyl-tRNA synthetase 1
|
|
KBTBD13
|
kelch repeat and BTB (POZ) domain containing 13
|
|
KCNH1
|
potassium channel, voltage gated eag related subfamily H, member 1
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KIF1B
|
kinesin family member 1B
|
|
KIF5A
|
kinesin family member 5A
|
|
KISS1R
|
KISS1 receptor
|
|
KLC2
|
kinesin light chain 2
|
|
KLHL41
|
kelch-like family member 41
|
|
KLHL7
|
kelch-like family member 7
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
KYNU
|
kynureninase
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
LAMP2
|
lysosomal-associated membrane protein 2
|
|
LAS1L
|
LAS1-like (S. cerevisiae)
|
|
LBR
|
lamin B receptor
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LITAF
|
lipopolysaccharide-induced TNF factor
|
|
LMBR1
|
limb development membrane protein 1
|
|
LMNA
|
lamin A/C
|
|
LRSAM1
|
leucine rich repeat and sterile alpha motif containing 1
|
|
MAFB
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
|
|
MASP1
|
mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MFN2
|
mitofusin 2
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MME
|
membrane metallo-endopeptidase
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MORC2
|
MORC family CW-type zinc finger 2
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
MPZ
|
myelin protein zero
|
|
MRE11
|
MRE11 homolog, double strand break repair nuclease
|
|
MSTO1
|
misato 1, mitochondrial distribution and morphology regulator
|
|
MTMR2
|
myotubularin related protein 2
|
|
MYBPC1
|
myosin binding protein C, slow type
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYO9A
|
myosin IXA
|
|
MYPN
|
myopalladin
|
|
NALCN
|
sodium leak channel, non selective
|
|
NDRG1
|
N-myc downstream regulated 1
|
|
NEB
|
nebulin
|
|
NEFH
|
neurofilament, heavy polypeptide
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NIPA1
|
non imprinted in Prader-Willi/Angelman syndrome 1
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NOTCH1
|
notch 1
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NSMF
|
NMDA receptor synaptonuclear signaling and neuronal migration factor
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
OPA3
|
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
|
|
PCGF2
|
polycomb group ring finger 2
|
|
PCNA
|
proliferating cell nuclear antigen
|
|
PDK3
|
pyruvate dehydrogenase kinase, isozyme 3
|
|
PDXK
|
pyridoxal (pyridoxine, vitamin B6) kinase
|
|
PEX10
|
peroxisomal biogenesis factor 10
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PHF6
|
PHD finger protein 6
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIGN
|
phosphatidylinositol glycan anchor biosynthesis, class N
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLEKHG5
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
|
PLP1
|
proteolipid protein 1
|
|
PMP2
|
peripheral myelin protein 2
|
|
PMP22
|
peripheral myelin protein 22
|
|
PNKP
|
polynucleotide kinase 3'-phosphatase
|
|
PODXL
|
podocalyxin-like
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PPP3CA
|
protein phosphatase 3, catalytic subunit, alpha isozyme
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PROK2
|
prokineticin 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRX
|
periaxin
|
|
PSAT1
|
phosphoserine aminotransferase 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PUF60
|
poly-U binding splicing factor 60KDa
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
PYROXD1
|
pyridine nucleotide-disulphide oxidoreductase domain 1
|
|
RAB11B
|
RAB11B, member RAS oncogene family
|
|
RAB7A
|
RAB7A, member RAS oncogene family
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RBBP8
|
retinoblastoma binding protein 8
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
REEP1
|
receptor accessory protein 1
|
|
REEP2
|
receptor accessory protein 2
|
|
REPS1
|
RALBP1 associated Eps domain containing 1
|
|
RET
|
ret proto-oncogene
|
|
RIPK4
|
receptor-interacting serine-threonine kinase 4
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RTN2
|
reticulon 2
|
|
RUSC2
|
RUN and SH3 domain containing 2
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SACS
|
sacsin molecular chaperone
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SBF2
|
SET binding factor 2
|
|
SC5D
|
sterol-C5-desaturase
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SEMA3A
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SETD5
|
SET domain containing 5
|
|
SETX
|
senataxin
|
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
|
SIGMAR1
|
sigma non-opioid intracellular receptor 1
|
|
SIN3A
|
SIN3 transcription regulator family member A
|
|
SLC18A3
|
solute carrier family 18 (vesicular acetylcholine transporter), member 3
|
|
SLC25A1
|
solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
|
|
SLC25A46
|
solute carrier family 25, member 46
|
|
SLC33A1
|
solute carrier family 33 (acetyl-CoA transporter), member 1
|
|
SLC5A7
|
solute carrier family 5 (sodium/choline cotransporter), member 7
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SNAP25
|
synaptosomal-associated protein, 25kDa
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SPART
|
spartin
|
|
SPAST
|
spastin
|
|
SPEG
|
SPEG complex locus
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SPRY4
|
sprouty homolog 4 (Drosophila)
|
|
SPTLC1
|
serine palmitoyltransferase, long chain base subunit 1
|
|
STAC3
|
SH3 and cysteine rich domain 3
|
|
SUZ12
|
SUZ12 polycomb repressive complex 2 subunit
|
|
SYNE1
|
spectrin repeat containing, nuclear envelope 1
|
|
SYNJ1
|
synaptojanin 1
|
|
SYT2
|
synaptotagmin II
|
|
TACR3
|
tachykinin receptor 3
|
|
TBL1XR1
|
transducin (beta)-like 1 X-linked receptor 1
|
|
TCTN2
|
tectonic family member 2
|
|
TDP1
|
tyrosyl-DNA phosphodiesterase 1
|
|
TH
|
tyrosine hydroxylase
|
|
TMEM107
|
transmembrane protein 107
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM67
|
transmembrane protein 67
|
|
TNNI2
|
troponin I type 2 (skeletal, fast)
|
|
TNNT3
|
troponin T type 3 (skeletal, fast)
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TPM3
|
tropomyosin 3
|
|
TRAPPC11
|
trafficking protein particle complex 11
|
|
TRIM2
|
tripartite motif containing 2
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TTN
|
titin
|
|
TTPA
|
tocopherol (alpha) transfer protein
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
UCHL1
|
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
|
|
USP9X
|
ubiquitin specific peptidase 9, X-linked
|
|
VAMP1
|
vesicle-associated membrane protein 1 (synaptobrevin 1)
|
|
VCP
|
valosin containing protein
|
|
VIPAS39
|
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
VPS13D
|
vacuolar protein sorting 13 homolog D (S. cerevisiae)
|
|
VPS33B
|
vacuolar protein sorting 33 homolog B (yeast)
|
|
WARS1
|
tryptophanyl-tRNA synthetase 1
|
|
WASHC5
|
WASH complex subunit 5
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR11
|
WD repeat domain 11
|
|
WDR73
|
WD repeat domain 73
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
