| Symbol |
Name |
|
ABL1
|
ABL proto-oncogene 1, non-receptor tyrosine kinase
|
|
ADCY6
|
adenylate cyclase 6
|
|
ALK
|
anaplastic lymphoma receptor tyrosine kinase
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
ANOS1
|
anosmin 1
|
|
APC
|
adenomatous polyposis coli
|
|
APOE
|
apolipoprotein E
|
|
AR
|
androgen receptor
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
CAPN10
|
calpain 10
|
|
CCM2
|
cerebral cavernous malformation 2
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CFHR1
|
complement factor H-related 1
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHAT
|
choline O-acetyltransferase
|
|
CNTNAP1
|
contactin associated protein 1
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CYP2C9
|
cytochrome P450, family 2, subfamily C, polypeptide 9
|
|
DICER1
|
dicer 1, ribonuclease type III
|
|
DMD
|
dystrophin
|
|
DRD2
|
dopamine receptor D2
|
|
DRD4
|
dopamine receptor D4
|
|
DRD5
|
dopamine receptor D5
|
|
EDN3
|
endothelin 3
|
|
EGFR
|
epidermal growth factor receptor
|
|
ERBB2
|
erb-b2 receptor tyrosine kinase 2
|
|
ESR1
|
estrogen receptor 1
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
FASLG
|
Fas ligand (TNF superfamily, member 6)
|
|
FAT1
|
FAT atypical cadherin 1
|
|
FCGR2A
|
Fc fragment of IgG, low affinity IIa, receptor (CD32)
|
|
FH
|
fumarate hydratase
|
|
GDNF
|
glial cell derived neurotrophic factor
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GLDC
|
glycine dehydrogenase (decarboxylating)
|
|
GSTM1
|
glutathione S-transferase mu 1
|
|
GSTP1
|
glutathione S-transferase pi 1
|
|
GSTT1
|
glutathione S-transferase theta 1
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HNF1A
|
HNF1 homeobox A
|
|
IDH1
|
isocitrate dehydrogenase 1 (NADP+), soluble
|
|
IDH2
|
isocitrate dehydrogenase 2 (NADP+), mitochondrial
|
|
IL1A
|
interleukin 1, alpha
|
|
IL1B
|
interleukin 1, beta
|
|
IL4R
|
interleukin 4 receptor
|
|
IL6
|
interleukin 6
|
|
ITGB3
|
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
|
|
JAK2
|
Janus kinase 2
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRIT1
|
KRIT1, ankyrin repeat containing
|
|
KRT17
|
keratin 17, type I
|
|
LCE3B
|
late cornified envelope 3B
|
|
LCE3C
|
late cornified envelope 3C
|
|
LGI1
|
leucine-rich, glioma inactivated 1
|
|
LMNA
|
lamin A/C
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
MEOX1
|
mesenchyme homeobox 1
|
|
NF1
|
neurofibromin 1
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
OCA2
|
oculocutaneous albinism II
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OPRL1
|
opiate receptor-like 1
|
|
PDCD10
|
programmed cell death 10
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PML
|
promyelocytic leukemia
|
|
PNKD
|
paroxysmal nonkinesigenic dyskinesia
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PRPF31
|
pre-mRNA processing factor 31
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
RARA
|
retinoic acid receptor, alpha
|
|
RB1
|
retinoblastoma 1
|
|
RET
|
ret proto-oncogene
|
|
RGS16
|
regulator of G-protein signaling 16
|
|
RGSL1
|
regulator of G-protein signaling like 1
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
SHOX
|
short stature homeobox
|
|
SHOX2
|
short stature homeobox 2
|
|
SLC25A12
|
solute carrier family 25 (aspartate/glutamate carrier), member 12
|
|
SYNE1
|
spectrin repeat containing, nuclear envelope 1
|
|
TMLHE
|
trimethyllysine hydroxylase, epsilon
|
|
TNF
|
tumor necrosis factor
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
