| Symbol |
Name |
|
AARS2
|
alanyl-tRNA synthetase 2, mitochondrial
|
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ABCD4
|
ATP-binding cassette, sub-family D (ALD), member 4
|
|
ACO2
|
aconitase 2, mitochondrial
|
|
ACTB
|
actin, beta
|
|
ACTG1
|
actin gamma 1
|
|
ACY1
|
aminoacylase 1
|
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
ADK
|
adenosine kinase
|
|
ADSL
|
adenylosuccinate lyase
|
|
AGA
|
aspartylglucosaminidase
|
|
AIMP1
|
aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
|
|
ALDH7A1
|
aldehyde dehydrogenase 7 family, member A1
|
|
ALG1
|
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
|
|
ALG3
|
ALG3, alpha-1,3- mannosyltransferase
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
AMPD2
|
adenosine monophosphate deaminase 2
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
AP4E1
|
adaptor-related protein complex 4, epsilon 1 subunit
|
|
ARX
|
aristaless related homeobox
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ASPA
|
aspartoacylase
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATL1
|
atlastin GTPase 1
|
|
ATP10A
|
ATPase, class V, type 10A
|
|
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
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B4GALNT1
|
beta-1,4-N-acetyl-galactosaminyl transferase 1
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCAP31
|
B-cell receptor-associated protein 31
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRAT1
|
BRCA1-associated ATM activator 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
BTD
|
biotinidase
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CASK
|
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
|
|
CCT5
|
chaperonin containing TCP1, subunit 5 (epsilon)
|
|
CDH23
|
cadherin-related 23
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CHCHD10
|
coiled-coil-helix-coiled-coil-helix domain containing 10
|
|
CHMP2B
|
charged multivesicular body protein 2B
|
|
CIB2
|
calcium and integrin binding family member 2
|
|
CISD2
|
CDGSH iron sulfur domain 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)
|
|
CLP1
|
cleavage and polyadenylation factor I subunit 1
|
|
CLPP
|
caseinolytic mitochondrial matrix peptidase proteolytic subunit
|
|
COG4
|
component of oligomeric golgi complex 4
|
|
COG5
|
component of oligomeric golgi complex 5
|
|
COL18A1
|
collagen, type XVIII, alpha 1
|
|
COQ9
|
coenzyme Q9
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CSF1R
|
colony stimulating factor 1 receptor
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CTSD
|
cathepsin D
|
|
CTSF
|
cathepsin F
|
|
CYFIP1
|
cytoplasmic FMR1 interacting protein 1
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
DFNB31
|
deafness, autosomal recessive 31
|
|
DGUOK
|
deoxyguanosine kinase
|
|
DHFR
|
dihydrofolate reductase
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DNAJC5
|
DnaJ (Hsp40) homolog, subfamily C, member 5
|
|
DNMT1
|
DNA (cytosine-5-)-methyltransferase 1
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
DOLK
|
dolichol kinase
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
DYRK1A
|
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
ELN
|
elastin
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
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
|
|
EXOSC3
|
exosome component 3
|
|
FADD
|
Fas (TNFRSF6)-associated via death domain
|
|
FARS2
|
phenylalanyl-tRNA synthetase 2, mitochondrial
|
|
FBXL4
|
F-box and leucine-rich repeat protein 4
|
|
FH
|
fumarate hydratase
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOLR1
|
folate receptor 1 (adult)
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
FUS
|
FUS RNA binding protein
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GALC
|
galactosylceramidase
|
|
GBA
|
glucosidase, beta, acid
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GFM1
|
G elongation factor, mitochondrial 1
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GLB1
|
galactosidase, beta 1
|
|
GLUL
|
glutamate-ammonia ligase
|
|
GLYCTK
|
glycerate kinase
|
|
GNAO1
|
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GRN
|
granulin
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
GUSB
|
glucuronidase, beta
|
|
HARS2
|
histidyl-tRNA synthetase 2, mitochondrial
|
|
HDAC8
|
histone deacetylase 8
|
|
HEPACAM
|
hepatic and glial cell adhesion molecule
|
|
HIC1
|
hypermethylated in cancer 1
|
|
HNF1B
|
HNF1 homeobox B
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HTT
|
huntingtin
|
|
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
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
KANK1
|
KN motif and ankyrin repeat domains 1
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNT1
|
potassium channel, sodium activated subfamily T, member 1
|
|
KCTD7
|
potassium channel tetramerization domain containing 7
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KIAA0196
|
KIAA0196
|
|
KIAA2022
|
KIAA2022
|
|
KIF1BP
|
KIF1 binding protein
|
|
KIF7
|
kinesin family member 7
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
L2HGDH
|
L-2-hydroxyglutarate dehydrogenase
|
|
LARS2
|
leucyl-tRNA synthetase 2, mitochondrial
|
|
LHX1
|
LIM homeobox 1
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMNB1
|
lamin B1
|
|
LYRM7
|
LYR motif containing 7
|
|
LYST
|
lysosomal trafficking regulator
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MAPT
|
microtubule-associated protein tau
|
|
MARS2
|
methionyl-tRNA synthetase 2, mitochondrial
|
|
MATR3
|
matrin 3
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED17
|
mediator complex subunit 17
|
|
MEF2C
|
myocyte enhancer factor 2C
|
|
MFSD8
|
major facilitator superfamily domain containing 8
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
MMADHC
|
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
|
|
MOCS1
|
molybdenum cofactor synthesis 1
|
|
MOCS2
|
molybdenum cofactor synthesis 2
|
|
MOGS
|
mannosyl-oligosaccharide glucosidase
|
|
MPLKIP
|
M-phase specific PLK1 interacting protein
|
|
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
|
|
MTR
|
5-methyltetrahydrofolate-homocysteine methyltransferase
|
|
MTRR
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
|
|
MUC1
|
mucin 1, cell surface associated
|
|
MVK
|
mevalonate kinase
|
|
MYO5A
|
myosin VA (heavy chain 12, myoxin)
|
|
MYO7A
|
myosin VIIA
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
NBN
|
nibrin
|
|
ND1
|
|
|
NDE1
|
nudE neurodevelopment protein 1
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NIPA1
|
non imprinted in Prader-Willi/Angelman syndrome 1
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NOTCH3
|
notch 3
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
OCA2
|
oculocutaneous albinism II
|
|
OCLN
|
occludin
|
|
OPHN1
|
oligophrenin 1
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PANK2
|
pantothenate kinase 2
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PCDH15
|
protocadherin-related 15
|
|
PCK1
|
phosphoenolpyruvate carboxykinase 1 (soluble)
|
|
PCNA
|
proliferating cell nuclear antigen
|
|
PDHA1
|
pyruvate dehydrogenase (lipoamide) alpha 1
|
|
PDYN
|
prodynorphin
|
|
PDZD7
|
PDZ domain containing 7
|
|
PEX19
|
peroxisomal biogenesis factor 19
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PFN1
|
profilin 1
|
|
PGAP1
|
post-GPI attachment to proteins 1
|
|
PGAP2
|
post-GPI attachment to proteins 2
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIGT
|
phosphatidylinositol glycan anchor biosynthesis, class T
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLP1
|
proteolipid protein 1
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLR3A
|
polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PPP2R2B
|
protein phosphatase 2, regulatory subunit B, beta
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PRDM16
|
PR domain containing 16
|
|
PRNP
|
prion protein
|
|
PSAP
|
prosaposin
|
|
PSEN1
|
presenilin 1
|
|
PUF60
|
poly-U binding splicing factor 60KDa
|
|
QARS
|
glutaminyl-tRNA synthetase
|
|
RAB18
|
RAB18, member RAS oncogene family
|
|
RAB23
|
RAB23, 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)
|
|
RARS2
|
arginyl-tRNA synthetase 2, mitochondrial
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RMND1
|
required for meiotic nuclear division 1 homolog (S. cerevisiae)
|
|
RNASEH2A
|
ribonuclease H2, subunit A
|
|
RNASEH2B
|
ribonuclease H2, subunit B
|
|
RNF216
|
ring finger protein 216
|
|
ROGDI
|
rogdi homolog (Drosophila)
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
RUNX2
|
runt-related transcription factor 2
|
|
SC5D
|
sterol-C5-desaturase
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCO2
|
SCO2 cytochrome c oxidase assembly protein
|
|
SEPSECS
|
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
|
|
SERAC1
|
serine active site containing 1
|
|
SERPINI1
|
serpin peptidase inhibitor, clade I (neuroserpin), member 1
|
|
SETBP1
|
SET binding protein 1
|
|
SETX
|
senataxin
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SKI
|
SKI proto-oncogene
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC25A15
|
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
|
|
SLC25A22
|
solute carrier family 25 (mitochondrial carrier: glutamate), member 22
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC2A3
|
solute carrier family 2 (facilitated glucose transporter), member 3
|
|
SLC33A1
|
solute carrier family 33 (acetyl-CoA transporter), member 1
|
|
SLC35A2
|
solute carrier family 35 (UDP-galactose transporter), member A2
|
|
SLC35C1
|
solute carrier family 35 (GDP-fucose transporter), member C1
|
|
SLC39A4
|
solute carrier family 39 (zinc transporter), member 4
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SPAST
|
spastin
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
ST3GAL5
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
|
|
STAMBP
|
STAM binding protein
|
|
STXBP1
|
syntaxin binding protein 1
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
SUCLG1
|
succinate-CoA ligase, alpha subunit
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBP
|
TATA box binding protein
|
|
TCTN3
|
tectonic family member 3
|
|
TECPR2
|
tectonin beta-propeller repeat containing 2
|
|
TERT
|
telomerase reverse transcriptase
|
|
TFG
|
TRK-fused gene
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TMEM70
|
transmembrane protein 70
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TREM2
|
triggering receptor expressed on myeloid cells 2
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TSEN54
|
TSEN54 tRNA splicing endonuclease subunit
|
|
TTC19
|
tetratricopeptide repeat domain 19
|
|
TUBGCP6
|
tubulin, gamma complex associated protein 6
|
|
TYROBP
|
TYRO protein tyrosine kinase binding protein
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UBQLN2
|
ubiquilin 2
|
|
UCHL1
|
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
|
|
USH1C
|
Usher syndrome 1C (autosomal recessive, severe)
|
|
USH1G
|
Usher syndrome 1G (autosomal recessive)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VAPB
|
VAMP (vesicle-associated membrane protein)-associated protein B and C
|
|
VCP
|
valosin containing protein
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
VPS53
|
vacuolar protein sorting 53 homolog (S. cerevisiae)
|
|
VRK1
|
vaccinia related kinase 1
|
|
VTI1A
|
vesicle transport through interaction with t-SNAREs 1A
|
|
WDR45
|
WD repeat domain 45
|
|
WDR81
|
WD repeat domain 81
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
YWHAE
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
|
ZNF335
|
zinc finger protein 335
|
