| Symbol |
Name |
|
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
|
|
ATP8B1
|
ATPase, aminophospholipid transporter, class I, type 8B, member 1
|
|
BCKDHA
|
branched chain keto acid dehydrogenase E1, alpha polypeptide
|
|
BCKDHB
|
branched chain keto acid dehydrogenase E1, beta polypeptide
|
|
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
|
|
CDC73
|
cell division cycle 73
|
|
CDKN1A
|
cyclin-dependent kinase inhibitor 1A (p21, Cip1)
|
|
CDKN1B
|
cyclin-dependent kinase inhibitor 1B (p27, Kip1)
|
|
CDKN2B
|
cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
|
|
CDKN2C
|
cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
|
|
CEL
|
carboxyl ester lipase
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
DBT
|
dihydrolipoamide branched chain transacylase E2
|
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
FAH
|
fumarylacetoacetate hydrolase (fumarylacetoacetase)
|
|
FOS
|
FBJ murine osteosarcoma viral oncogene homolog
|
|
G6PC
|
glucose-6-phosphatase, catalytic subunit
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GNA11
|
guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
|
|
GPC3
|
glypican 3
|
|
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
|
|
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
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
LBR
|
lamin B receptor
|
|
LMNA
|
lamin A/C
|
|
LPL
|
lipoprotein lipase
|
|
MEFV
|
Mediterranean fever
|
|
MEN1
|
multiple endocrine neoplasia I
|
|
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
|
|
ND1
|
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PAX4
|
paired box 4
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PDX1
|
pancreatic and duodenal homeobox 1
|
|
PRSS1
|
protease, serine, 1 (trypsin 1)
|
|
PRTN3
|
proteinase 3
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
REG1A
|
regenerating islet-derived 1 alpha
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
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
|
|
SPINK1
|
serine peptidase inhibitor, Kazal type 1
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
TLR4
|
toll-like receptor 4
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
XPNPEP3
|
X-prolyl aminopeptidase 3, mitochondrial
|
