| Symbol |
Name |
|
AAGAB
|
alpha- and gamma-adaptin binding protein
|
|
ABCB4
|
ATP-binding cassette, sub-family B (MDR/TAP), member 4
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ACTG2
|
actin, gamma 2, smooth muscle, enteric
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AP2S1
|
adaptor-related protein complex 2, sigma 1 subunit
|
|
APOC2
|
apolipoprotein C-II
|
|
ARX
|
aristaless related homeobox
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATP8B1
|
ATPase, aminophospholipid transporter, class I, type 8B, member 1
|
|
B9D1
|
B9 protein domain 1
|
|
B9D2
|
B9 protein domain 2
|
|
BCKDHA
|
branched chain keto acid dehydrogenase E1, alpha polypeptide
|
|
BCKDHB
|
branched chain keto acid dehydrogenase E1, beta polypeptide
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
CASR
|
calcium-sensing receptor
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CBS
|
cystathionine-beta-synthase
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CDC73
|
cell division cycle 73
|
|
CDK4
|
cyclin-dependent kinase 4
|
|
CDKN1A
|
cyclin-dependent kinase inhibitor 1A (p21, Cip1)
|
|
CDKN1B
|
cyclin-dependent kinase inhibitor 1B (p27, Kip1)
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CDKN2B
|
cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
|
|
CDKN2C
|
cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
|
|
CDKN2D
|
cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
|
|
CEL
|
carboxyl ester lipase
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHEK2
|
checkpoint kinase 2
|
|
COL14A1
|
collagen, type XIV, alpha 1
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
DBT
|
dihydrolipoamide branched chain transacylase E2
|
|
DCTN4
|
dynactin 4 (p62)
|
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
EPCAM
|
epithelial cell adhesion molecule
|
|
EWSR1
|
EWS RNA-binding protein 1
|
|
FAH
|
fumarylacetoacetate hydrolase (fumarylacetoacetase)
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FOS
|
FBJ murine osteosarcoma viral oncogene homolog
|
|
FOXF1
|
forkhead box F1
|
|
G6PC
|
glucose-6-phosphatase, catalytic subunit
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GATA6
|
GATA binding protein 6
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GNA11
|
guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
HAMP
|
hepcidin antimicrobial peptide
|
|
HFE2
|
hemochromatosis type 2 (juvenile)
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DPB1
|
major histocompatibility complex, class II, DP beta 1
|
|
HNF1B
|
HNF1 homeobox B
|
|
HOXD13
|
homeobox D13
|
|
IL10
|
interleukin 10
|
|
IL12RB2
|
interleukin 12 receptor, beta 2
|
|
IL23R
|
interleukin 23 receptor
|
|
INS
|
insulin
|
|
INSR
|
insulin receptor
|
|
ITS
|
Insulinoma tumor suppressor gene locus
|
|
JAG1
|
jagged 1
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KCNQ1OT1
|
KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LBR
|
lamin B receptor
|
|
LHX1
|
LIM homeobox 1
|
|
LMNA
|
lamin A/C
|
|
LPL
|
lipoprotein lipase
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LRRFIP2
|
leucine rich repeat (in FLII) interacting protein 2
|
|
MC1R
|
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
|
|
MDM2
|
MDM2 proto-oncogene, E3 ubiquitin protein ligase
|
|
MEFV
|
Mediterranean fever
|
|
MEN1
|
multiple endocrine neoplasia I
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MLH1
|
mutL homolog 1
|
|
MLH3
|
mutL homolog 3
|
|
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
|
|
MUT
|
methylmalonyl CoA mutase
|
|
MYCN
|
v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
|
|
ND1
|
|
|
NEK1
|
NIMA-related kinase 1
|
|
NHP2
|
NHP2 ribonucleoprotein
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
NOTCH3
|
notch 3
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PAX4
|
paired box 4
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PDX1
|
pancreatic and duodenal homeobox 1
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PMS1
|
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
POT1
|
protection of telomeres 1
|
|
PRDM16
|
PR domain containing 16
|
|
PRKCSH
|
protein kinase C substrate 80K-H
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRSS1
|
protease, serine, 1 (trypsin 1)
|
|
PRTN3
|
proteinase 3
|
|
PTF1A
|
pancreas specific transcription factor, 1a
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
RARB
|
retinoic acid receptor, beta
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RECQL4
|
RecQ protein-like 4
|
|
REG1A
|
regenerating islet-derived 1 alpha
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SEC63
|
SEC63 homolog (S. cerevisiae)
|
|
SKI
|
SKI proto-oncogene
|
|
SLC16A1
|
solute carrier family 16 (monocarboxylate transporter), member 1
|
|
SLC25A13
|
solute carrier family 25 (aspartate/glutamate carrier), member 13
|
|
SLC37A4
|
solute carrier family 37 (glucose-6-phosphate transporter), member 4
|
|
SLC7A7
|
solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
|
|
SMAD4
|
SMAD family member 4
|
|
SPINK1
|
serine peptidase inhibitor, Kazal type 1
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
STK11
|
serine/threonine kinase 11
|
|
STRA6
|
stimulated by retinoic acid 6
|
|
STX1A
|
syntaxin 1A (brain)
|
|
TCTN2
|
tectonic family member 2
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TF
|
transferrin
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TLR4
|
toll-like receptor 4
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM67
|
transmembrane protein 67
|
|
TP53
|
tumor protein p53
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TTC37
|
tetratricopeptide repeat domain 37
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR60
|
WD repeat domain 60
|
|
WRAP53
|
WD repeat containing, antisense to TP53
|
|
WT1
|
Wilms tumor 1
|
|
XPNPEP3
|
X-prolyl aminopeptidase 3, mitochondrial
|
