| Symbol |
Name |
|
ABCA12
|
ATP-binding cassette, sub-family A (ABC1), member 12
|
|
ACADM
|
acyl-CoA dehydrogenase, C-4 to C-12 straight chain
|
|
ACE
|
angiotensin I converting enzyme
|
|
ADAMTS13
|
ADAM metallopeptidase with thrombospondin type 1 motif, 13
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
ADIPOQ
|
adiponectin, C1Q and collagen domain containing
|
|
AIRE
|
autoimmune regulator
|
|
ALOX12B
|
arachidonate 12-lipoxygenase, 12R type
|
|
AQP2
|
aquaporin 2 (collecting duct)
|
|
AR
|
androgen receptor
|
|
AVPR2
|
arginine vasopressin receptor 2
|
|
CAPN10
|
calpain 10
|
|
CBS
|
cystathionine-beta-synthase
|
|
CDHR1
|
cadherin-related family member 1
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CNGA3
|
cyclic nucleotide gated channel alpha 3
|
|
CRP
|
C-reactive protein, pentraxin-related
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
DCLRE1C
|
DNA cross-link repair 1C
|
|
DFNB59
|
deafness, autosomal recessive 59
|
|
DRD2
|
dopamine receptor D2
|
|
DSP
|
desmoplakin
|
|
EGFR
|
epidermal growth factor receptor
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
F12
|
coagulation factor XII (Hageman factor)
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
FBP1
|
fructose-1,6-bisphosphatase 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
GAN
|
gigaxonin
|
|
GCNT2
|
glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
|
|
GNB3
|
guanine nucleotide binding protein (G protein), beta polypeptide 3
|
|
HEXA
|
hexosaminidase A (alpha polypeptide)
|
|
HLA-DQB1
|
major histocompatibility complex, class II, DQ beta 1
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HR
|
hair growth associated
|
|
HSD17B3
|
hydroxysteroid (17-beta) dehydrogenase 3
|
|
IDDM17
|
insulin-dependent diabetes mellitus 17
|
|
IGF2
|
insulin-like growth factor 2
|
|
IVD
|
isovaleryl-CoA dehydrogenase
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
KIR3DL1
|
killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
|
|
LDLR
|
low density lipoprotein receptor
|
|
LEP
|
leptin
|
|
LOXL1
|
lysyl oxidase-like 1
|
|
MAOA
|
monoamine oxidase A
|
|
MC2R
|
melanocortin 2 receptor (adrenocorticotropic hormone)
|
|
MDM2
|
MDM2 proto-oncogene, E3 ubiquitin protein ligase
|
|
MEFV
|
Mediterranean fever
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYO15A
|
myosin XVA
|
|
MYO6
|
myosin VI
|
|
MYO7A
|
myosin VIIA
|
|
NAT2
|
N-acetyltransferase 2 (arylamine N-acetyltransferase)
|
|
NF1
|
neurofibromin 1
|
|
NLRP1
|
NLR family, pyrin domain containing 1
|
|
NOS3
|
nitric oxide synthase 3 (endothelial cell)
|
|
NPPB
|
natriuretic peptide B
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
RUNX1
|
runt-related transcription factor 1
|
|
SERPING1
|
serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SLC7A9
|
solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
|
|
SMOC2
|
SPARC related modular calcium binding 2
|
|
TCF7L2
|
transcription factor 7-like 2 (T-cell specific, HMG-box)
|
|
TNF
|
tumor necrosis factor
|
|
TP53
|
tumor protein p53
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TTN
|
titin
|
|
TULP1
|
tubby like protein 1
|
|
USH1C
|
Usher syndrome 1C (autosomal recessive, severe)
|
|
USH1G
|
Usher syndrome 1G (autosomal recessive)
|
|
VWA2
|
von Willebrand factor A domain containing 2
|
|
VWF
|
von Willebrand factor
|
