| Symbol |
Name |
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
ALAD
|
aminolevulinate dehydratase
|
|
AMN
|
amnion associated transmembrane protein
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
AR
|
androgen receptor
|
|
ATL1
|
atlastin GTPase 1
|
|
ATL3
|
atlastin GTPase 3
|
|
ATXN8
|
ataxin 8
|
|
ATXN8OS
|
ATXN8 opposite strand (non-protein coding)
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CALR
|
calreticulin
|
|
CASR
|
calcium-sensing receptor
|
|
CCT5
|
chaperonin containing TCP1, subunit 5 (epsilon)
|
|
COMP
|
cartilage oligomeric matrix protein
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTSC
|
cathepsin C
|
|
CUBN
|
cubilin (intrinsic factor-cobalamin receptor)
|
|
DNASE1L3
|
deoxyribonuclease I-like 3
|
|
DNMT1
|
DNA (cytosine-5-)-methyltransferase 1
|
|
FGF14
|
fibroblast growth factor 14
|
|
FMR1
|
fragile X mental retardation 1
|
|
FXN
|
frataxin
|
|
GAN
|
gigaxonin
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GIF
|
gastric intrinsic factor (vitamin B synthesis)
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GLA
|
galactosidase, alpha
|
|
GNA11
|
guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
|
|
HBB
|
hemoglobin, beta
|
|
HINT1
|
histidine triad nucleotide binding protein 1
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DPB1
|
major histocompatibility complex, class II, DP beta 1
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
IL10
|
interleukin 10
|
|
IL12RB2
|
interleukin 12 receptor, beta 2
|
|
IL23R
|
interleukin 23 receptor
|
|
JAK2
|
Janus kinase 2
|
|
KCNJ1
|
potassium channel, inwardly rectifying subfamily J, member 1
|
|
KCNQ2
|
potassium channel, voltage gated KQT-like subfamily Q, member 2
|
|
KCNQ3
|
potassium channel, voltage gated KQT-like subfamily Q, member 3
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LYST
|
lysosomal trafficking regulator
|
|
MEFV
|
Mediterranean fever
|
|
MFN2
|
mitofusin 2
|
|
MLH1
|
mutL homolog 1
|
|
MPL
|
MPL proto-oncogene, thrombopoietin receptor
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
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
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
ND1
|
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
PMP22
|
peripheral myelin protein 22
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PRICKLE1
|
prickle homolog 1 (Drosophila)
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
PRTN3
|
proteinase 3
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
RAB7A
|
RAB7A, member RAS oncogene family
|
|
RNF170
|
ring finger protein 170
|
|
SCN2A
|
sodium channel, voltage gated, type II alpha subunit
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SEPT9
|
septin 9
|
|
SH2B3
|
SH2B adaptor protein 3
|
|
SLC12A1
|
solute carrier family 12 (sodium/potassium/chloride transporter), member 1
|
|
SLC12A3
|
solute carrier family 12 (sodium/chloride transporter), member 3
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPTLC1
|
serine palmitoyltransferase, long chain base subunit 1
|
|
SPTLC2
|
serine palmitoyltransferase, long chain base subunit 2
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
TET2
|
tet methylcytosine dioxygenase 2
|
|
THPO
|
thrombopoietin
|
|
TLR4
|
toll-like receptor 4
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
TNXB
|
tenascin XB
|
|
TP53
|
tumor protein p53
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|