| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
AARS2
|
alanyl-tRNA synthetase 2, mitochondrial
|
|
ABAT
|
4-aminobutyrate aminotransferase
|
|
ABCB7
|
ATP-binding cassette, sub-family B (MDR/TAP), member 7
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
ABHD5
|
abhydrolase domain containing 5
|
|
ACO2
|
aconitase 2, mitochondrial
|
|
ACY1
|
aminoacylase 1
|
|
ADCK3
|
aarF domain containing kinase 3
|
|
ADGRG1
|
adhesion G protein-coupled receptor G1
|
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
ADSL
|
adenylosuccinate lyase
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
AHDC1
|
AT hook, DNA binding motif, containing 1
|
|
AHI1
|
Abelson helper integration site 1
|
|
AIPL1
|
aryl hydrocarbon receptor interacting protein-like 1
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALDH5A1
|
aldehyde dehydrogenase 5 family, member A1
|
|
ALG3
|
ALG3, alpha-1,3- mannosyltransferase
|
|
ALG6
|
ALG6, alpha-1,3-glucosyltransferase
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ALX4
|
ALX homeobox 4
|
|
AMACR
|
alpha-methylacyl-CoA racemase
|
|
ANO10
|
anoctamin 10
|
|
ANOS1
|
anosmin 1
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
AP4E1
|
adaptor-related protein complex 4, epsilon 1 subunit
|
|
AP4M1
|
adaptor-related protein complex 4, mu 1 subunit
|
|
APOB
|
apolipoprotein B
|
|
APTX
|
aprataxin
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARL13B
|
ADP-ribosylation factor-like 13B
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARSA
|
arylsulfatase A
|
|
ASL
|
argininosuccinate lyase
|
|
ASNS
|
asparagine synthetase (glutamine-hydrolyzing)
|
|
ASPNAT
|
aspartate N-acetyltransferase
|
|
ASS1
|
argininosuccinate synthase 1
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATCAY
|
ataxia, cerebellar, Cayman type
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATN1
|
atrophin 1
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATP2B3
|
ATPase, Ca++ transporting, plasma membrane 3
|
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
|
ATP8A2
|
ATPase, aminophospholipid transporter, class I, type 8A, member 2
|
|
ATPAF2
|
ATP synthase mitochondrial F1 complex assembly factor 2
|
|
ATR
|
ATR serine/threonine kinase
|
|
ATXN1
|
ataxin 1
|
|
ATXN10
|
ataxin 10
|
|
ATXN2
|
ataxin 2
|
|
ATXN3
|
ataxin 3
|
|
ATXN7
|
ataxin 7
|
|
ATXN8
|
ataxin 8
|
|
ATXN8OS
|
ATXN8 opposite strand (non-protein coding)
|
|
AUH
|
AU RNA binding protein/enoyl-CoA hydratase
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GNT1
|
|
|
B4GALNT1
|
beta-1,4-N-acetyl-galactosaminyl transferase 1
|
|
B4GALT1
|
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
|
|
B9D1
|
B9 protein domain 1
|
|
B9D2
|
B9 protein domain 2
|
|
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
|
|
BCAP31
|
B-cell receptor-associated protein 31
|
|
BCKDHA
|
branched chain keto acid dehydrogenase E1, alpha polypeptide
|
|
BCKDHB
|
branched chain keto acid dehydrogenase E1, beta polypeptide
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BEAN1
|
brain expressed, associated with NEDD4, 1
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
BTD
|
biotinidase
|
|
BUB1
|
BUB1 mitotic checkpoint serine/threonine kinase
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
BUB3
|
BUB3 mitotic checkpoint protein
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
CA8
|
carbonic anhydrase VIII
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNB4
|
calcium channel, voltage-dependent, beta 4 subunit
|
|
CAMTA1
|
calmodulin binding transcription activator 1
|
|
CASK
|
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCDC22
|
coiled-coil domain containing 22
|
|
CDH23
|
cadherin-related 23
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CDR3
|
Cerebellar degeneration-related autoantigen-3
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CEP164
|
centrosomal protein 164kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CHCHD10
|
coiled-coil-helix-coiled-coil-helix domain containing 10
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHMP1A
|
charged multivesicular body protein 1A
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CIB2
|
calcium and integrin binding family member 2
|
|
CLCN2
|
chloride channel, voltage-sensitive 2
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CLN5
|
ceroid-lipofuscinosis, neuronal 5
|
|
CLN6
|
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
|
|
CLN8
|
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
|
|
CLPP
|
caseinolytic mitochondrial matrix peptidase proteolytic subunit
|
|
COA5
|
cytochrome c oxidase assembly factor 5
|
|
COG4
|
component of oligomeric golgi complex 4
|
|
COG5
|
component of oligomeric golgi complex 5
|
|
COG8
|
component of oligomeric golgi complex 8
|
|
COL18A1
|
collagen, type XVIII, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
COQ9
|
coenzyme Q9
|
|
COX1
|
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX14
|
COX14 cytochrome c oxidase assembly factor
|
|
COX15
|
cytochrome c oxidase assembly homolog 15 (yeast)
|
|
COX2
|
|
|
COX20
|
COX20 cytochrome c oxidase assembly factor
|
|
COX3
|
|
|
COX6B1
|
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
|
|
CP
|
ceruloplasmin (ferroxidase)
|
|
CPS1
|
carbamoyl-phosphate synthase 1, mitochondrial
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRX
|
cone-rod homeobox
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
CSTB
|
cystatin B (stefin B)
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
CTSD
|
cathepsin D
|
|
CTSF
|
cathepsin F
|
|
CUL4B
|
cullin 4B
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DARS2
|
aspartyl-tRNA synthetase 2, mitochondrial
|
|
DBT
|
dihydrolipoamide branched chain transacylase E2
|
|
DCX
|
doublecortin
|
|
DFNB31
|
deafness, autosomal recessive 31
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DHFR
|
dihydrofolate reductase
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DLAT
|
dihydrolipoamide S-acetyltransferase
|
|
DLD
|
dihydrolipoamide dehydrogenase
|
|
DNAJC19
|
DnaJ (Hsp40) homolog, subfamily C, member 19
|
|
DNAJC5
|
DnaJ (Hsp40) homolog, subfamily C, member 5
|
|
DNMT1
|
DNA (cytosine-5-)-methyltransferase 1
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
DOK7
|
docking protein 7
|
|
DPM1
|
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
|
|
DPM2
|
dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
EDNRB
|
endothelin receptor type B
|
|
EEF2
|
eukaryotic translation elongation factor 2
|
|
ELN
|
elastin
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
ELOVL5
|
ELOVL fatty acid elongase 5
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC3
|
excision repair cross-complementation group 3
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC5
|
excision repair cross-complementation group 5
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
ERF
|
Ets2 repressor factor
|
|
ETHE1
|
ethylmalonic encephalopathy 1
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
EXOSC3
|
exosome component 3
|
|
FA2H
|
fatty acid 2-hydroxylase
|
|
FAM126A
|
family with sequence similarity 126, member A
|
|
FARS2
|
phenylalanyl-tRNA synthetase 2, mitochondrial
|
|
FASTKD2
|
FAST kinase domains 2
|
|
FBN1
|
fibrillin 1
|
|
FBXL4
|
F-box and leucine-rich repeat protein 4
|
|
FGF14
|
fibroblast growth factor 14
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLNA
|
filamin A, alpha
|
|
FLVCR2
|
feline leukemia virus subgroup C cellular receptor family, member 2
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXC1
|
forkhead box C1
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FTL
|
ferritin, light polypeptide
|
|
FTO
|
fat mass and obesity associated
|
|
FUZ
|
fuzzy planar cell polarity protein
|
|
FXN
|
frataxin
|
|
GAMT
|
guanidinoacetate N-methyltransferase
|
|
GAN
|
gigaxonin
|
|
GBA
|
glucosidase, beta, acid
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GDF6
|
growth differentiation factor 6
|
|
GFAP
|
glial fibrillary acidic protein
|
|
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
|
|
GLB1
|
galactosidase, beta 1
|
|
GLI3
|
GLI family zinc finger 3
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GOSR2
|
golgi SNAP receptor complex member 2
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GPI
|
glucose-6-phosphate isomerase
|
|
GPSM2
|
G-protein signaling modulator 2
|
|
GRM1
|
glutamate receptor, metabotropic 1
|
|
GRN
|
granulin
|
|
GSS
|
glutathione synthetase
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
HARS
|
histidyl-tRNA synthetase
|
|
HARS2
|
histidyl-tRNA synthetase 2, mitochondrial
|
|
HCN1
|
hyperpolarization activated cyclic nucleotide gated potassium channel 1
|
|
HDAC6
|
histone deacetylase 6
|
|
HDAC8
|
histone deacetylase 8
|
|
HEPACAM
|
hepatic and glial cell adhesion molecule
|
|
HESX1
|
HESX homeobox 1
|
|
HEXB
|
hexosaminidase B (beta polypeptide)
|
|
HHAT
|
hedgehog acyltransferase
|
|
HMGA2
|
high mobility group AT-hook 2
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HTRA1
|
HtrA serine peptidase 1
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT172
|
intraflagellar transport 172
|
|
IFT27
|
intraflagellar transport 27
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
IQCB1
|
IQ motif containing B1
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
ITM2B
|
integral membrane protein 2B
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
JAM3
|
junctional adhesion molecule 3
|
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
|
KCNC3
|
potassium channel, voltage gated Shaw related subfamily C, member 3
|
|
KCND3
|
potassium channel, voltage gated Shal related subfamily D, member 3
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KCNJ13
|
potassium channel, inwardly rectifying subfamily J, member 13
|
|
KCNQ1OT1
|
KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
|
|
KCTD7
|
potassium channel tetramerization domain containing 7
|
|
KIAA0196
|
KIAA0196
|
|
KIAA0226
|
KIAA0226
|
|
KIF1A
|
kinesin family member 1A
|
|
KIF1C
|
kinesin family member 1C
|
|
KIF7
|
kinesin family member 7
|
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
L2HGDH
|
L-2-hydroxyglutarate dehydrogenase
|
|
LAMA1
|
laminin, alpha 1
|
|
LAMB1
|
laminin, beta 1
|
|
LARGE
|
like-glycosyltransferase
|
|
LARS2
|
leucyl-tRNA synthetase 2, mitochondrial
|
|
LCA5
|
Leber congenital amaurosis 5
|
|
LEMD3
|
LEM domain containing 3
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMNB1
|
lamin B1
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LRPPRC
|
leucine-rich pentatricopeptide repeat containing
|
|
LYST
|
lysosomal trafficking regulator
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MARS2
|
methionyl-tRNA synthetase 2, mitochondrial
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MCOLN1
|
mucolipin 1
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MEF2C
|
myocyte enhancer factor 2C
|
|
MFSD8
|
major facilitator superfamily domain containing 8
|
|
MGME1
|
mitochondrial genome maintenance exonuclease 1
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MLC1
|
megalencephalic leukoencephalopathy with subcortical cysts 1
|
|
MMADHC
|
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
|
|
MPL
|
MPL proto-oncogene, thrombopoietin receptor
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
MPZ
|
myelin protein zero
|
|
MRE11A
|
MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
|
|
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-TK
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
MTFMT
|
mitochondrial methionyl-tRNA formyltransferase
|
|
MTTP
|
microsomal triglyceride transfer protein
|
|
MVK
|
mevalonate kinase
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
MYO5A
|
myosin VA (heavy chain 12, myoxin)
|
|
MYO7A
|
myosin VIIA
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
ND1
|
|
|
NDE1
|
nudE neurodevelopment protein 1
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
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
|
|
NEK1
|
NIMA-related kinase 1
|
|
NELFA
|
negative elongation factor complex member A
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NF2
|
neurofibromin 2 (merlin)
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NME1
|
NME/NM23 nucleoside diphosphate kinase 1
|
|
NMNAT1
|
nicotinamide nucleotide adenylyltransferase 1
|
|
NOP56
|
NOP56 ribonucleoprotein
|
|
NOTCH2
|
notch 2
|
|
NOTCH3
|
notch 3
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NPC2
|
Niemann-Pick disease, type C2
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NUBPL
|
nucleotide binding protein-like
|
|
OCLN
|
occludin
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
OPA3
|
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
|
|
OPHN1
|
oligophrenin 1
|
|
OTC
|
ornithine carbamoyltransferase
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PANK2
|
pantothenate kinase 2
|
|
PAX2
|
paired box 2
|
|
PAX6
|
paired box 6
|
|
PCDH15
|
protocadherin-related 15
|
|
PCNA
|
proliferating cell nuclear antigen
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PDE8B
|
phosphodiesterase 8B
|
|
PDHA1
|
pyruvate dehydrogenase (lipoamide) alpha 1
|
|
PDHX
|
pyruvate dehydrogenase complex, component X
|
|
PDP1
|
pyruvate dehyrogenase phosphatase catalytic subunit 1
|
|
PDYN
|
prodynorphin
|
|
PDZD7
|
PDZ domain containing 7
|
|
PET100
|
PET100 homolog (S. cerevisiae)
|
|
PEX16
|
peroxisomal biogenesis factor 16
|
|
PEX6
|
peroxisomal biogenesis factor 6
|
|
PGK1
|
phosphoglycerate kinase 1
|
|
PGM3
|
phosphoglucomutase 3
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PIGN
|
phosphatidylinositol glycan anchor biosynthesis, class N
|
|
PIGT
|
phosphatidylinositol glycan anchor biosynthesis, class T
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3R5
|
phosphoinositide-3-kinase, regulatory subunit 5
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLG
|
plasminogen
|
|
PLP1
|
proteolipid protein 1
|
|
PMM2
|
phosphomannomutase 2
|
|
PMP22
|
peripheral myelin protein 22
|
|
PNKP
|
polynucleotide kinase 3'-phosphatase
|
|
PNP
|
purine nucleoside phosphorylase
|
|
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
|
|
POLR3B
|
polymerase (RNA) III (DNA directed) polypeptide B
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMGNT2
|
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
|
|
POMK
|
protein-O-mannose kinase
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PPP2R2B
|
protein phosphatase 2, regulatory subunit B, beta
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PRF1
|
perforin 1 (pore forming protein)
|
|
PRICKLE1
|
prickle homolog 1 (Drosophila)
|
|
PRICKLE2
|
prickle homolog 2 (Drosophila)
|
|
PRKCG
|
protein kinase C, gamma
|
|
PRNP
|
prion protein
|
|
PROKR2
|
prokineticin receptor 2
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRRX1
|
paired related homeobox 1
|
|
PSAP
|
prosaposin
|
|
PSAT1
|
phosphoserine aminotransferase 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTF1A
|
pancreas specific transcription factor, 1a
|
|
PTS
|
6-pyruvoyltetrahydropterin synthase
|
|
QARS
|
glutaminyl-tRNA synthetase
|
|
RAB18
|
RAB18, member RAS oncogene family
|
|
RAB27A
|
RAB27A, member RAS oncogene family
|
|
RAB3GAP1
|
RAB3 GTPase activating protein subunit 1 (catalytic)
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAD50
|
RAD50 homolog (S. cerevisiae)
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RARS2
|
arginyl-tRNA synthetase 2, mitochondrial
|
|
RBBP8
|
retinoblastoma binding protein 8
|
|
RBM10
|
RNA binding motif protein 10
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RD3
|
retinal degeneration 3
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RNASEH2A
|
ribonuclease H2, subunit A
|
|
RNASET2
|
ribonuclease T2
|
|
RNF168
|
ring finger protein 168, E3 ubiquitin protein ligase
|
|
RNF216
|
ring finger protein 216
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
ROGDI
|
rogdi homolog (Drosophila)
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RPIA
|
ribose 5-phosphate isomerase A
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
SACS
|
sacsin molecular chaperone
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SC5D
|
sterol-C5-desaturase
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SCARF2
|
scavenger receptor class F, member 2
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN8A
|
sodium channel, voltage gated, type VIII 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)
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SEPSECS
|
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
|
|
SERAC1
|
serine active site containing 1
|
|
SETX
|
senataxin
|
|
SFXN4
|
sideroflexin 4
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SIX3
|
SIX homeobox 3
|
|
SKI
|
SKI proto-oncogene
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC19A3
|
solute carrier family 19 (thiamine transporter), member 3
|
|
SLC1A3
|
solute carrier family 1 (glial high affinity glutamate transporter), member 3
|
|
SLC20A2
|
solute carrier family 20 (phosphate transporter), member 2
|
|
SLC25A1
|
solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
|
|
SLC25A19
|
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC33A1
|
solute carrier family 33 (acetyl-CoA transporter), member 1
|
|
SLC39A4
|
solute carrier family 39 (zinc transporter), member 4
|
|
SLC46A1
|
solute carrier family 46 (folate transporter), member 1
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCA4
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SMARCE1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
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)
|
|
SPR
|
sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
|
|
SPTAN1
|
spectrin, alpha, non-erythrocytic 1
|
|
SPTBN2
|
spectrin, beta, non-erythrocytic 2
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
STT3A
|
STT3A, subunit of the oligosaccharyltransferase complex (catalytic)
|
|
STT3B
|
STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
SUCLG1
|
succinate-CoA ligase, alpha subunit
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
SUOX
|
sulfite oxidase
|
|
SURF1
|
surfeit 1
|
|
SYT14
|
synaptotagmin XIV
|
|
TACO1
|
translational activator of mitochondrially encoded cytochrome c oxidase I
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBP
|
TATA box binding protein
|
|
TCF4
|
transcription factor 4
|
|
TCN2
|
transcobalamin II
|
|
TCTN1
|
tectonic family member 1
|
|
TCTN2
|
tectonic family member 2
|
|
TCTN3
|
tectonic family member 3
|
|
TDP1
|
tyrosyl-DNA phosphodiesterase 1
|
|
TECPR2
|
tectonin beta-propeller repeat containing 2
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TGM6
|
transglutaminase 6
|
|
TH
|
tyrosine hydroxylase
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TMEM138
|
transmembrane protein 138
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM5
|
transmembrane protein 5
|
|
TMEM67
|
transmembrane protein 67
|
|
TMEM70
|
transmembrane protein 70
|
|
TPK1
|
thiamin pyrophosphokinase 1
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TRAPPC11
|
trafficking protein particle complex 11
|
|
TRAPPC9
|
trafficking protein particle complex 9
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRNE
|
|
|
TSEN2
|
TSEN2 tRNA splicing endonuclease subunit
|
|
TSEN34
|
TSEN34 tRNA splicing endonuclease subunit
|
|
TSEN54
|
TSEN54 tRNA splicing endonuclease subunit
|
|
TSFM
|
Ts translation elongation factor, mitochondrial
|
|
TTBK2
|
tau tubulin kinase 2
|
|
TTC19
|
tetratricopeptide repeat domain 19
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TTPA
|
tocopherol (alpha) transfer protein
|
|
TTR
|
transthyretin
|
|
TUBA1A
|
tubulin, alpha 1a
|
|
TUBB
|
tubulin, beta class I
|
|
TUBB2B
|
tubulin, beta 2B class IIb
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
TUBGCP6
|
tubulin, gamma complex associated protein 6
|
|
TULP1
|
tubby like protein 1
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UCHL1
|
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
|
|
UQCRQ
|
ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa
|
|
UROC1
|
urocanate hydratase 1
|
|
USH1C
|
Usher syndrome 1C (autosomal recessive, severe)
|
|
USH1G
|
Usher syndrome 1G (autosomal recessive)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VAMP1
|
vesicle-associated membrane protein 1 (synaptobrevin 1)
|
|
VANGL1
|
VANGL planar cell polarity protein 1
|
|
VARS2
|
valyl-tRNA synthetase 2, mitochondrial
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VLDLR
|
very low density lipoprotein receptor
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
VPS53
|
vacuolar protein sorting 53 homolog (S. cerevisiae)
|
|
VRK1
|
vaccinia related kinase 1
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR45
|
WD repeat domain 45
|
|
WDR81
|
WD repeat domain 81
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
WWOX
|
WW domain containing oxidoreductase
|
|
XPA
|
xeroderma pigmentosum, complementation group A
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
|
ZNF335
|
zinc finger protein 335
|
|
ZNF423
|
zinc finger protein 423
|
|
ZNF592
|
zinc finger protein 592
|
|
ZSWIM6
|
zinc finger, SWIM-type containing 6
|
