| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
ADCK4
|
aarF domain containing kinase 4
|
|
ADK
|
adenosine kinase
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
AIMP1
|
aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
ANO5
|
anoctamin 5
|
|
ANTXR2
|
anthrax toxin receptor 2
|
|
AP4B1
|
adaptor-related protein complex 4, beta 1 subunit
|
|
AP5Z1
|
adaptor-related protein complex 5, zeta 1 subunit
|
|
AR
|
androgen receptor
|
|
ARHGDIA
|
Rho GDP dissociation inhibitor (GDI) alpha
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ASNS
|
asparagine synthetase (glutamine-hydrolyzing)
|
|
ATL1
|
atlastin GTPase 1
|
|
ATP13A2
|
ATPase type 13A2
|
|
ATP2B3
|
ATPase, Ca++ transporting, plasma membrane 3
|
|
ATP6AP2
|
ATPase, H+ transporting, lysosomal accessory protein 2
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATXN3
|
ataxin 3
|
|
B4GALNT1
|
beta-1,4-N-acetyl-galactosaminyl transferase 1
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CFHR5
|
complement factor H-related 5
|
|
CFL2
|
cofilin 2 (muscle)
|
|
CHKB
|
choline kinase beta
|
|
CHMP2B
|
charged multivesicular body protein 2B
|
|
CHRNB1
|
cholinergic receptor, nicotinic, beta 1 (muscle)
|
|
CHRNE
|
cholinergic receptor, nicotinic, epsilon (muscle)
|
|
CLCN5
|
chloride channel, voltage-sensitive 5
|
|
CLN8
|
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
|
|
COASY
|
CoA synthase
|
|
COCH
|
cochlin
|
|
COL4A3
|
collagen, type IV, alpha 3 (Goodpasture antigen)
|
|
COL4A4
|
collagen, type IV, alpha 4
|
|
COL4A5
|
collagen, type IV, alpha 5
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
COQ6
|
coenzyme Q6 monooxygenase
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX15
|
cytochrome c oxidase assembly homolog 15 (yeast)
|
|
CRYAB
|
crystallin, alpha B
|
|
CSF1R
|
colony stimulating factor 1 receptor
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTSF
|
cathepsin F
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DARS
|
aspartyl-tRNA synthetase
|
|
DARS2
|
aspartyl-tRNA synthetase 2, mitochondrial
|
|
DCTN1
|
dynactin 1
|
|
DDHD1
|
DDHD domain containing 1
|
|
DDHD2
|
DDHD domain containing 2
|
|
DES
|
desmin
|
|
DGKE
|
diacylglycerol kinase, epsilon 64kDa
|
|
DIABLO
|
diablo, IAP-binding mitochondrial protein
|
|
DNA2
|
DNA replication helicase/nuclease 2
|
|
DNAJB2
|
DnaJ (Hsp40) homolog, subfamily B, member 2
|
|
DNAJB6
|
DnaJ (Hsp40) homolog, subfamily B, member 6
|
|
DNAJC5
|
DnaJ (Hsp40) homolog, subfamily C, member 5
|
|
DNAJC6
|
DnaJ (Hsp40) homolog, subfamily C, member 6
|
|
DNM2
|
dynamin 2
|
|
DNMT1
|
DNA (cytosine-5-)-methyltransferase 1
|
|
DPAGT1
|
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
|
|
DPM1
|
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
DYSF
|
dysferlin
|
|
EEF2
|
eukaryotic translation elongation factor 2
|
|
EMD
|
emerin
|
|
EPM2A
|
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
|
|
ERLIN2
|
ER lipid raft associated 2
|
|
FA2H
|
fatty acid 2-hydroxylase
|
|
FAM134B
|
family with sequence similarity 134, member B
|
|
FAN1
|
FANCD2/FANCI-associated nuclease 1
|
|
FBXO38
|
F-box protein 38
|
|
FBXO7
|
F-box protein 7
|
|
FGF14
|
fibroblast growth factor 14
|
|
FHL1
|
four and a half LIM domains 1
|
|
FKTN
|
fukutin
|
|
FLNC
|
filamin C, gamma
|
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
|
FN1
|
fibronectin 1
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FTL
|
ferritin, light polypeptide
|
|
FZD4
|
frizzled class receptor 4
|
|
GAN
|
gigaxonin
|
|
GARS
|
glycyl-tRNA synthetase
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GNAS
|
GNAS complex locus
|
|
GNB4
|
guanine nucleotide binding protein (G protein), beta polypeptide 4
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
GOSR2
|
golgi SNAP receptor complex member 2
|
|
GRHL2
|
grainyhead-like 2 (Drosophila)
|
|
GRM1
|
glutamate receptor, metabotropic 1
|
|
GRN
|
granulin
|
|
HEPACAM
|
hepatic and glial cell adhesion molecule
|
|
HINT1
|
histidine triad nucleotide binding protein 1
|
|
HK1
|
hexokinase 1
|
|
HNRNPDL
|
heterogeneous nuclear ribonucleoprotein D-like
|
|
HOXB1
|
homeobox B1
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
HSPB3
|
heat shock 27kDa protein 3
|
|
HSPD1
|
heat shock 60kDa protein 1 (chaperonin)
|
|
IKBKAP
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
|
ILDR1
|
immunoglobulin-like domain containing receptor 1
|
|
INF2
|
inverted formin, FH2 and WH2 domain containing
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
KBTBD13
|
kelch repeat and BTB (POZ) domain containing 13
|
|
KCNC3
|
potassium channel, voltage gated Shaw related subfamily C, member 3
|
|
KCND3
|
potassium channel, voltage gated Shal related subfamily D, member 3
|
|
KCNQ4
|
potassium channel, voltage gated KQT-like subfamily Q, member 4
|
|
KCNT1
|
potassium channel, sodium activated subfamily T, member 1
|
|
KCTD7
|
potassium channel tetramerization domain containing 7
|
|
KIAA0196
|
KIAA0196
|
|
KIAA0226
|
KIAA0226
|
|
KIF1A
|
kinesin family member 1A
|
|
KIF1B
|
kinesin family member 1B
|
|
KIF1C
|
kinesin family member 1C
|
|
KIF5A
|
kinesin family member 5A
|
|
KRT12
|
keratin 12, type I
|
|
KRT3
|
keratin 3, type II
|
|
LEMD3
|
LEM domain containing 3
|
|
LMNA
|
lamin A/C
|
|
LMNB1
|
lamin B1
|
|
LRBA
|
LPS-responsive vesicle trafficking, beach and anchor containing
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
LRSAM1
|
leucine rich repeat and sterile alpha motif containing 1
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED17
|
mediator complex subunit 17
|
|
MFN2
|
mitofusin 2
|
|
MFSD8
|
major facilitator superfamily domain containing 8
|
|
MGME1
|
mitochondrial genome maintenance exonuclease 1
|
|
MOCS1
|
molybdenum cofactor synthesis 1
|
|
MOCS2
|
molybdenum cofactor synthesis 2
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
MPZ
|
myelin protein zero
|
|
MRE11A
|
MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
|
|
MTAP
|
methylthioadenosine phosphorylase
|
|
MTPAP
|
mitochondrial poly(A) polymerase
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
MYH14
|
myosin, heavy chain 14, non-muscle
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYO1E
|
myosin IE
|
|
MYOT
|
myotilin
|
|
NALCN
|
sodium leak channel, non selective
|
|
NBEAL2
|
neurobeachin-like 2
|
|
NDUFA10
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
|
|
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
|
|
NDUFAF2
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
|
|
NDUFAF6
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
|
|
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)
|
|
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)
|
|
NHLRC1
|
NHL repeat containing E3 ubiquitin protein ligase 1
|
|
NIPA1
|
non imprinted in Prader-Willi/Angelman syndrome 1
|
|
NOL3
|
nucleolar protein 3 (apoptosis repressor with CARD domain)
|
|
NOP56
|
NOP56 ribonucleoprotein
|
|
NPHS1
|
nephrosis 1, congenital, Finnish type (nephrin)
|
|
NPHS2
|
nephrosis 2, idiopathic, steroid-resistant (podocin)
|
|
PABPN1
|
poly(A) binding protein, nuclear 1
|
|
PANK2
|
pantothenate kinase 2
|
|
PARK7
|
parkinson protein 7
|
|
PDE8B
|
phosphodiesterase 8B
|
|
PDGFB
|
platelet-derived growth factor beta polypeptide
|
|
PDK3
|
pyruvate dehydrogenase kinase, isozyme 3
|
|
PDYN
|
prodynorphin
|
|
PIK3R5
|
phosphoinositide-3-kinase, regulatory subunit 5
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLCE1
|
phospholipase C, epsilon 1
|
|
PLEC
|
plectin
|
|
PLEKHG5
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
|
PLP1
|
proteolipid protein 1
|
|
PMP22
|
peripheral myelin protein 22
|
|
PNPLA2
|
patatin-like phospholipase domain containing 2
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
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
|
|
PRICKLE1
|
prickle homolog 1 (Drosophila)
|
|
PRICKLE2
|
prickle homolog 2 (Drosophila)
|
|
PRKCG
|
protein kinase C, gamma
|
|
PRKRA
|
protein kinase, interferon-inducible double stranded RNA dependent activator
|
|
PRNP
|
prion protein
|
|
PRX
|
periaxin
|
|
PSEN1
|
presenilin 1
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RARS2
|
arginyl-tRNA synthetase 2, mitochondrial
|
|
REEP2
|
receptor accessory protein 2
|
|
RNASET2
|
ribonuclease T2
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
RTN2
|
reticulon 2
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SBF1
|
SET binding factor 1
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SEPN1
|
selenoprotein N, 1
|
|
SETX
|
senataxin
|
|
SFTPB
|
surfactant protein B
|
|
SGCA
|
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
|
|
SGCG
|
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
|
|
SIGMAR1
|
sigma non-opioid intracellular receptor 1
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC20A2
|
solute carrier family 20 (phosphate transporter), member 2
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
SLC33A1
|
solute carrier family 33 (acetyl-CoA transporter), member 1
|
|
SLC34A2
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 2
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLC5A7
|
solute carrier family 5 (sodium/choline cotransporter), member 7
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SMAD9
|
SMAD family member 9
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SOST
|
sclerostin
|
|
SPAST
|
spastin
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPTBN2
|
spectrin, beta, non-erythrocytic 2
|
|
STIM1
|
stromal interaction molecule 1
|
|
SURF1
|
surfeit 1
|
|
SYNJ1
|
synaptojanin 1
|
|
SYT14
|
synaptotagmin XIV
|
|
TARDBP
|
TAR DNA binding protein
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBP
|
TATA box binding protein
|
|
TEAD1
|
TEA domain family member 1 (SV40 transcriptional enhancer factor)
|
|
TFG
|
TRK-fused gene
|
|
TGM6
|
transglutaminase 6
|
|
TIA1
|
TIA1 cytotoxic granule-associated RNA binding protein
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TMEM43
|
transmembrane protein 43
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TTN
|
titin
|
|
TTR
|
transthyretin
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
TYMP
|
thymidine phosphorylase
|
|
UCHL1
|
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
|
|
UMOD
|
uromodulin
|
|
VLDLR
|
very low density lipoprotein receptor
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
VRK1
|
vaccinia related kinase 1
|
|
WNK1
|
WNK lysine deficient protein kinase 1
|
|
WT1
|
Wilms tumor 1
|
|
YARS2
|
tyrosyl-tRNA synthetase 2, mitochondrial
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
|
ZNF592
|
zinc finger protein 592
|
