| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ACE
|
angiotensin I converting enzyme
|
|
ADAMTS13
|
ADAM metallopeptidase with thrombospondin type 1 motif, 13
|
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
ADGRG1
|
adhesion G protein-coupled receptor G1
|
|
AR
|
androgen receptor
|
|
ARFGEF2
|
ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
|
|
ARMC5
|
armadillo repeat containing 5
|
|
ARMS2
|
age-related maculopathy susceptibility 2
|
|
ATM
|
ATM serine/threonine kinase
|
|
BAK1
|
BCL2-antagonist/killer 1
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BGLAP
|
bone gamma-carboxyglutamate (gla) protein
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
CDH1
|
cadherin 1, type 1, E-cadherin (epithelial)
|
|
CFH
|
complement factor H
|
|
CFHR1
|
complement factor H-related 1
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHEK2
|
checkpoint kinase 2
|
|
CHN1
|
chimerin 1
|
|
CLPTM1L
|
CLPTM1-like
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL9A3
|
collagen, type IX, alpha 3
|
|
CRYGS
|
crystallin, gamma S
|
|
CSF1R
|
colony stimulating factor 1 receptor
|
|
CST3
|
cystatin C
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
CYP21A2
|
cytochrome P450, family 21, subfamily A, polypeptide 2
|
|
CYP26A1
|
cytochrome P450, family 26, subfamily A, polypeptide 1
|
|
CYP26C1
|
cytochrome P450, family 26, subfamily C, polypeptide 1
|
|
DFNA24
|
deafness, autosomal dominant 24
|
|
DISC1
|
disrupted in schizophrenia 1
|
|
DMRT1
|
doublesex and mab-3 related transcription factor 1
|
|
DOK7
|
docking protein 7
|
|
DRD2
|
dopamine receptor D2
|
|
DTNBP1
|
dystrobrevin binding protein 1
|
|
EDNRA
|
endothelin receptor type A
|
|
EME1
|
essential meiotic structure-specific endonuclease 1
|
|
ENG
|
endoglin
|
|
FBN1
|
fibrillin 1
|
|
FGF2
|
fibroblast growth factor 2 (basic)
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FLCN
|
folliculin
|
|
FLNA
|
filamin A, alpha
|
|
FOXE3
|
forkhead box E3
|
|
FOXI1
|
forkhead box I1
|
|
FOXL2
|
forkhead box L2
|
|
GATA3
|
GATA binding protein 3
|
|
GATA4
|
GATA binding protein 4
|
|
GH1
|
growth hormone 1
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GLI3
|
GLI family zinc finger 3
|
|
GRIN2B
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
|
|
GRN
|
granulin
|
|
GSTA1
|
glutathione S-transferase alpha 1
|
|
HCCS
|
holocytochrome c synthase
|
|
HFE
|
hemochromatosis
|
|
HIF1A
|
hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
HNF1B
|
HNF1 homeobox B
|
|
HOXA1
|
homeobox A1
|
|
HOXA2
|
homeobox A2
|
|
HOXB1
|
homeobox B1
|
|
HSF4
|
heat shock transcription factor 4
|
|
HTR4
|
5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled
|
|
IL6
|
interleukin 6
|
|
INSL3
|
insulin-like 3 (Leydig cell)
|
|
ITGA8
|
integrin, alpha 8
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KCNJ5
|
potassium channel, inwardly rectifying subfamily J, member 5
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KITLG
|
KIT ligand
|
|
LHCGR
|
luteinizing hormone/choriogonadotropin receptor
|
|
MAOA
|
monoamine oxidase A
|
|
MEFV
|
Mediterranean fever
|
|
MEN1
|
multiple endocrine neoplasia I
|
|
MIR10B
|
microRNA 10b
|
|
MIR21
|
microRNA 21
|
|
MIR31
|
microRNA 31
|
|
MSH2
|
mutS homolog 2
|
|
MT-ND3
|
NADH dehydrogenase, subunit 3 (complex I)
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MUC16
|
mucin 16, cell surface associated
|
|
MUS81
|
MUS81 structure-specific endonuclease subunit
|
|
MYO1C
|
myosin IC
|
|
MYO1F
|
myosin IF
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NF2
|
neurofibromin 2 (merlin)
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NR3C1
|
nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
|
|
NR5A1
|
nuclear receptor subfamily 5, group A, member 1
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
OXTR
|
oxytocin receptor
|
|
PABPN1
|
poly(A) binding protein, nuclear 1
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PDE11A
|
phosphodiesterase 11A
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PNN
|
pinin, desmosome associated protein
|
|
PPP3CB
|
protein phosphatase 3, catalytic subunit, beta isozyme
|
|
PRKACA
|
protein kinase, cAMP-dependent, catalytic, alpha
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPRN2
|
protein tyrosine phosphatase, receptor type, N polypeptide 2
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RB1
|
retinoblastoma 1
|
|
RBL1
|
retinoblastoma-like 1
|
|
RELN
|
reelin
|
|
RET
|
ret proto-oncogene
|
|
RNASE3
|
ribonuclease, RNase A family, 3
|
|
RNR1
|
RNA, ribosomal cluster 1
|
|
RP1L1
|
retinitis pigmentosa 1-like 1
|
|
RSPO1
|
R-spondin 1
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SERPINB3
|
serpin peptidase inhibitor, clade B (ovalbumin), member 3
|
|
SERPINE1
|
serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
|
|
SERPINF1
|
serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
|
|
SGCE
|
sarcoglycan, epsilon
|
|
SLC25A19
|
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SLC6A4
|
solute carrier family 6 (neurotransmitter transporter), member 4
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SOS1
|
son of sevenless homolog 1 (Drosophila)
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
TCF12
|
transcription factor 12
|
|
TERT
|
telomerase reverse transcriptase
|
|
TFE3
|
transcription factor binding to IGHM enhancer 3
|
|
TLR10
|
toll-like receptor 10
|
|
TMEM127
|
transmembrane protein 127
|
|
TMPRSS3
|
transmembrane protease, serine 3
|
|
TP53
|
tumor protein p53
|
|
TPH2
|
tryptophan hydroxylase 2
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TTR
|
transthyretin
|
|
VEGFA
|
vascular endothelial growth factor A
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WT1
|
Wilms tumor 1
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
|
ZFHX4
|
zinc finger homeobox 4
|
