| Symbol |
Name |
|
AARS
|
alanyl-tRNA synthetase
|
|
AASS
|
aminoadipate-semialdehyde synthase
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ACY1
|
aminoacylase 1
|
|
ADCK3
|
aarF domain containing kinase 3
|
|
AGK
|
acylglycerol kinase
|
|
AGRN
|
agrin
|
|
ALAS2
|
5'-aminolevulinate synthase 2
|
|
ALDH5A1
|
aldehyde dehydrogenase 5 family, member A1
|
|
AMACR
|
alpha-methylacyl-CoA racemase
|
|
AMELX
|
amelogenin, X-linked
|
|
ANO3
|
anoctamin 3
|
|
ANO5
|
anoctamin 5
|
|
ANTXR2
|
anthrax toxin receptor 2
|
|
APC
|
adenomatous polyposis coli
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ASS1
|
argininosuccinate synthase 1
|
|
ATL1
|
atlastin GTPase 1
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
ATXN10
|
ataxin 10
|
|
AUH
|
AU RNA binding protein/enoyl-CoA hydratase
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BICD2
|
bicaudal D homolog 2 (Drosophila)
|
|
BMPR2
|
bone morphogenetic protein receptor, type II (serine/threonine kinase)
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNA1S
|
calcium channel, voltage-dependent, L type, alpha 1S subunit
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CD27
|
CD27 molecule
|
|
CD3E
|
CD3e molecule, epsilon (CD3-TCR complex)
|
|
CD3G
|
CD3g molecule, gamma (CD3-TCR complex)
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CEP164
|
centrosomal protein 164kDa
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CFAP53
|
cilia and flagella associated protein 53
|
|
CFD
|
complement factor D (adipsin)
|
|
CFH
|
complement factor H
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRNA4
|
cholinergic receptor, nicotinic, alpha 4 (neuronal)
|
|
CHRNB1
|
cholinergic receptor, nicotinic, beta 1 (muscle)
|
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
|
CHRNE
|
cholinergic receptor, nicotinic, epsilon (muscle)
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
CLCN5
|
chloride channel, voltage-sensitive 5
|
|
COL18A1
|
collagen, type XVIII, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COL4A2
|
collagen, type IV, alpha 2
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX15
|
cytochrome c oxidase assembly homolog 15 (yeast)
|
|
CPOX
|
coproporphyrinogen oxidase
|
|
CREBBP
|
CREB binding protein
|
|
CRELD1
|
cysteine-rich with EGF-like domains 1
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CYP2U1
|
cytochrome P450, family 2, subfamily U, polypeptide 1
|
|
DARS2
|
aspartyl-tRNA synthetase 2, mitochondrial
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DCC
|
DCC netrin 1 receptor
|
|
DCX
|
doublecortin
|
|
DEPDC5
|
DEP domain containing 5
|
|
DES
|
desmin
|
|
DHCR24
|
24-dehydrocholesterol reductase
|
|
DHFR
|
dihydrofolate reductase
|
|
DLD
|
dihydrolipoamide dehydrogenase
|
|
DPAGT1
|
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
|
|
DPM1
|
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
DPYS
|
dihydropyrimidinase
|
|
DRD2
|
dopamine receptor D2
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
EGR2
|
early growth response 2
|
|
EHHADH
|
enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
|
|
EOGT
|
EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
F10
|
coagulation factor X
|
|
F2
|
coagulation factor II (thrombin)
|
|
F7
|
coagulation factor VII (serum prothrombin conversion accelerator)
|
|
FAM126A
|
family with sequence similarity 126, member A
|
|
FBXL4
|
F-box and leucine-rich repeat protein 4
|
|
FBXO38
|
F-box protein 38
|
|
FGF23
|
fibroblast growth factor 23
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FH
|
fumarate hydratase
|
|
FKBP14
|
FK506 binding protein 14, 22 kDa
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLCN
|
folliculin
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FTL
|
ferritin, light polypeptide
|
|
G6PC3
|
glucose 6 phosphatase, catalytic, 3
|
|
GABRG2
|
gamma-aminobutyric acid (GABA) A receptor, gamma 2
|
|
GAN
|
gigaxonin
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GATA2
|
GATA binding protein 2
|
|
GBA
|
glucosidase, beta, acid
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GDF6
|
growth differentiation factor 6
|
|
GFI1B
|
growth factor independent 1B transcription repressor
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GLI2
|
GLI family zinc finger 2
|
|
GLI3
|
GLI family zinc finger 3
|
|
GLYCTK
|
glycerate kinase
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GNAS
|
GNAS complex locus
|
|
GP6
|
glycoprotein VI (platelet)
|
|
GRIN2A
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2A
|
|
HADH
|
hydroxyacyl-CoA dehydrogenase
|
|
HESX1
|
HESX homeobox 1
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
HNF1B
|
HNF1 homeobox B
|
|
HSD11B2
|
hydroxysteroid (11-beta) dehydrogenase 2
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
JAG1
|
jagged 1
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
|
KCNQ2
|
potassium channel, voltage gated KQT-like subfamily Q, member 2
|
|
KIF5A
|
kinesin family member 5A
|
|
KIF7
|
kinesin family member 7
|
|
KLHL41
|
kelch-like family member 41
|
|
KRIT1
|
KRIT1, ankyrin repeat containing
|
|
KRT14
|
keratin 14, type I
|
|
KRT5
|
keratin 5, type II
|
|
KRT81
|
keratin 81, type II
|
|
KRT83
|
keratin 83, type II
|
|
KRT86
|
keratin 86, type II
|
|
LAMP2
|
lysosomal-associated membrane protein 2
|
|
LGI1
|
leucine-rich, glioma inactivated 1
|
|
LMNA
|
lamin A/C
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
MATR3
|
matrin 3
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MCCC1
|
methylcrotonoyl-CoA carboxylase 1 (alpha)
|
|
MEGF10
|
multiple EGF-like-domains 10
|
|
MET
|
MET proto-oncogene, receptor tyrosine kinase
|
|
MFN2
|
mitofusin 2
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MN1
|
meningioma (disrupted in balanced translocation) 1
|
|
MNX1
|
motor neuron and pancreas homeobox 1
|
|
MPC1
|
mitochondrial pyruvate carrier 1
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
MPZ
|
myelin protein zero
|
|
MRPL44
|
mitochondrial ribosomal protein L44
|
|
MTFMT
|
mitochondrial methionyl-tRNA formyltransferase
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYOT
|
myotilin
|
|
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
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NF2
|
neurofibromin 2 (merlin)
|
|
NIPA1
|
non imprinted in Prader-Willi/Angelman syndrome 1
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NME1
|
NME/NM23 nucleoside diphosphate kinase 1
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NPHS2
|
nephrosis 2, idiopathic, steroid-resistant (podocin)
|
|
NR3C2
|
nuclear receptor subfamily 3, group C, member 2
|
|
NUBPL
|
nucleotide binding protein-like
|
|
OCLN
|
occludin
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PAK3
|
p21 protein (Cdc42/Rac)-activated kinase 3
|
|
PAX2
|
paired box 2
|
|
PAX3
|
paired box 3
|
|
PCSK1
|
proprotein convertase subtilisin/kexin type 1
|
|
PDGFB
|
platelet-derived growth factor beta polypeptide
|
|
PDHA1
|
pyruvate dehydrogenase (lipoamide) alpha 1
|
|
PDHX
|
pyruvate dehydrogenase complex, component X
|
|
PFKM
|
phosphofructokinase, muscle
|
|
PGK1
|
phosphoglycerate kinase 1
|
|
PHEX
|
phosphate regulating endopeptidase homolog, X-linked
|
|
PITX1
|
paired-like homeodomain 1
|
|
PITX2
|
paired-like homeodomain 2
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLP1
|
proteolipid protein 1
|
|
PMP22
|
peripheral myelin protein 22
|
|
PNPLA2
|
patatin-like phospholipase domain containing 2
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLG2
|
polymerase (DNA directed), gamma 2, accessory subunit
|
|
POLR3A
|
polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PRCC
|
papillary renal cell carcinoma (translocation-associated)
|
|
PRICKLE2
|
prickle homolog 2 (Drosophila)
|
|
PRKCG
|
protein kinase C, gamma
|
|
PRNP
|
prion protein
|
|
PROC
|
protein C (inactivator of coagulation factors Va and VIIIa)
|
|
PRODH
|
proline dehydrogenase (oxidase) 1
|
|
PRPF31
|
pre-mRNA processing factor 31
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
PRRX1
|
paired related homeobox 1
|
|
PRX
|
periaxin
|
|
PSAP
|
prosaposin
|
|
PTCH1
|
patched 1
|
|
PTCH2
|
patched 2
|
|
PTPRO
|
protein tyrosine phosphatase, receptor type, O
|
|
PUF60
|
poly-U binding splicing factor 60KDa
|
|
QDPR
|
quinoid dihydropteridine reductase
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAD51
|
RAD51 recombinase
|
|
RANBP2
|
RAN binding protein 2
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
REEP1
|
receptor accessory protein 1
|
|
ROGDI
|
rogdi homolog (Drosophila)
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN1B
|
sodium channel, voltage gated, type I beta subunit
|
|
SCN2A
|
sodium channel, voltage gated, type II alpha subunit
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHAF1
|
succinate dehydrogenase complex assembly factor 1
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SEPN1
|
selenoprotein N, 1
|
|
SERPINA6
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6
|
|
SETX
|
senataxin
|
|
SFTPC
|
surfactant protein C
|
|
SFXN4
|
sideroflexin 4
|
|
SGCA
|
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
|
|
SGCE
|
sarcoglycan, epsilon
|
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
|
SHH
|
sonic hedgehog
|
|
SIX3
|
SIX homeobox 3
|
|
SLC10A2
|
solute carrier family 10 (sodium/bile acid cotransporter), member 2
|
|
SLC25A15
|
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC30A10
|
solute carrier family 30, member 10
|
|
SLC3A1
|
solute carrier family 3 (amino acid transporter heavy chain), member 1
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC5A2
|
solute carrier family 5 (sodium/glucose cotransporter), member 2
|
|
SLC7A7
|
solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
|
|
SLC7A9
|
solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMAD9
|
SMAD family member 9
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SMS
|
spermine synthase
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SPAST
|
spastin
|
|
SPR
|
sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
|
|
SPTAN1
|
spectrin, alpha, non-erythrocytic 1
|
|
SRD5A2
|
steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
|
|
SUCLG1
|
succinate-CoA ligase, alpha subunit
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
SURF1
|
surfeit 1
|
|
SYNE1
|
spectrin repeat containing, nuclear envelope 1
|
|
SYNE2
|
spectrin repeat containing, nuclear envelope 2
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBXAS1
|
thromboxane A synthase 1 (platelet)
|
|
TCTN3
|
tectonic family member 3
|
|
TERC
|
telomerase RNA component
|
|
TH
|
tyrosine hydroxylase
|
|
THAP1
|
THAP domain containing, apoptosis associated protein 1
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TMEM165
|
transmembrane protein 165
|
|
TMEM216
|
transmembrane protein 216
|
|
TNFRSF13C
|
tumor necrosis factor receptor superfamily, member 13C
|
|
TOR1A
|
torsin family 1, member A (torsin A)
|
|
TPK1
|
thiamin pyrophosphokinase 1
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TPM3
|
tropomyosin 3
|
|
TRAPPC11
|
trafficking protein particle complex 11
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TSFM
|
Ts translation elongation factor, mitochondrial
|
|
TTC19
|
tetratricopeptide repeat domain 19
|
|
TTN
|
titin
|
|
TTR
|
transthyretin
|
|
TUBB3
|
tubulin, beta 3 class III
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
TUBG1
|
tubulin, gamma 1
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VWF
|
von Willebrand factor
|
|
WNT10B
|
wingless-type MMTV integration site family, member 10B
|
|
YARS2
|
tyrosyl-tRNA synthetase 2, mitochondrial
|
|
ZBTB18
|
zinc finger and BTB domain containing 18
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
|
ZNF423
|
zinc finger protein 423
|
