| Symbol |
Name |
|
ABCB4
|
ATP-binding cassette, sub-family B (MDR/TAP), member 4
|
|
ACAD9
|
acyl-CoA dehydrogenase family, member 9
|
|
ACADM
|
acyl-CoA dehydrogenase, C-4 to C-12 straight chain
|
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
|
ADK
|
adenosine kinase
|
|
AGL
|
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
|
|
AKR1D1
|
aldo-keto reductase family 1, member D1
|
|
ALAS2
|
5'-aminolevulinate synthase 2
|
|
ALDOB
|
aldolase B, fructose-bisphosphate
|
|
ALG6
|
ALG6, alpha-1,3-glucosyltransferase
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
AMACR
|
alpha-methylacyl-CoA racemase
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATP8B1
|
ATPase, aminophospholipid transporter, class I, type 8B, member 1
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
CBS
|
cystathionine-beta-synthase
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CD19
|
CD19 molecule
|
|
CD81
|
CD81 molecule
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
COG4
|
component of oligomeric golgi complex 4
|
|
COG6
|
component of oligomeric golgi complex 6
|
|
COG8
|
component of oligomeric golgi complex 8
|
|
CPT1A
|
carnitine palmitoyltransferase 1A (liver)
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CR2
|
complement component (3d/Epstein Barr virus) receptor 2
|
|
CYC1
|
cytochrome c-1
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DGUOK
|
deoxyguanosine kinase
|
|
DLD
|
dihydrolipoamide dehydrogenase
|
|
DOLK
|
dolichol kinase
|
|
DPAGT1
|
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
|
|
DPM1
|
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
|
|
DPM3
|
dolichyl-phosphate mannosyltransferase polypeptide 3
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
FAH
|
fumarylacetoacetate hydrolase (fumarylacetoacetase)
|
|
FAN1
|
FANCD2/FANCI-associated nuclease 1
|
|
FBXL4
|
F-box and leucine-rich repeat protein 4
|
|
G6PC
|
glucose-6-phosphatase, catalytic subunit
|
|
GDF2
|
growth differentiation factor 2
|
|
GNAS
|
GNAS complex locus
|
|
GNMT
|
glycine N-methyltransferase
|
|
GPD1
|
glycerol-3-phosphate dehydrogenase 1 (soluble)
|
|
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
|
|
HBB
|
hemoglobin, beta
|
|
HFE
|
hemochromatosis
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HNF1B
|
HNF1 homeobox B
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HSD3B7
|
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
|
|
ICOS
|
inducible T-cell co-stimulator
|
|
IGHV4-34
|
immunoglobulin heavy variable 4-34
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
JAG1
|
jagged 1
|
|
JAK2
|
Janus kinase 2
|
|
LBR
|
lamin B receptor
|
|
LHX1
|
LIM homeobox 1
|
|
LRBA
|
LPS-responsive vesicle trafficking, beach and anchor containing
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
MRPL3
|
mitochondrial ribosomal protein L3
|
|
MRPL44
|
mitochondrial ribosomal protein L44
|
|
MRPS16
|
mitochondrial ribosomal protein S16
|
|
MS4A1
|
membrane-spanning 4-domains, subfamily A, member 1
|
|
MVK
|
mevalonate kinase
|
|
NFKB2
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
|
|
NGLY1
|
N-glycanase 1
|
|
OCLN
|
occludin
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PEX13
|
peroxisomal biogenesis factor 13
|
|
PEX19
|
peroxisomal biogenesis factor 19
|
|
PGM1
|
phosphoglucomutase 1
|
|
PHKA2
|
phosphorylase kinase, alpha 2 (liver)
|
|
PHKG2
|
phosphorylase kinase, gamma 2 (testis)
|
|
PMM2
|
phosphomannomutase 2
|
|
PNPLA2
|
patatin-like phospholipase domain containing 2
|
|
POLD1
|
polymerase (DNA directed), delta 1, catalytic subunit
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLG2
|
polymerase (DNA directed), gamma 2, accessory subunit
|
|
PRKCD
|
protein kinase C, delta
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
PTRF
|
polymerase I and transcript release factor
|
|
RBCK1
|
RanBP-type and C3HC4-type zinc finger containing 1
|
|
RNASEH2A
|
ribonuclease H2, subunit A
|
|
RNASEH2C
|
ribonuclease H2, subunit C
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SC5D
|
sterol-C5-desaturase
|
|
SERPINA1
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
|
|
SLC22A5
|
solute carrier family 22 (organic cation/carnitine transporter), member 5
|
|
SLC25A13
|
solute carrier family 25 (aspartate/glutamate carrier), member 13
|
|
SLC25A20
|
solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
|
|
SLC30A10
|
solute carrier family 30, member 10
|
|
SLC37A4
|
solute carrier family 37 (glucose-6-phosphate transporter), member 4
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
TFR2
|
transferrin receptor 2
|
|
TMEM165
|
transmembrane protein 165
|
|
TMEM67
|
transmembrane protein 67
|
|
TNFRSF13B
|
tumor necrosis factor receptor superfamily, member 13B
|
|
TNFRSF13C
|
tumor necrosis factor receptor superfamily, member 13C
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
TNFSF12
|
tumor necrosis factor (ligand) superfamily, member 12
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRMU
|
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
|
|
VIPAS39
|
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
VPS33B
|
vacuolar protein sorting 33 homolog B (yeast)
|
|
YARS2
|
tyrosyl-tRNA synthetase 2, mitochondrial
|
