| Symbol |
Name |
|
AK2
|
adenylate kinase 2
|
|
ATM
|
ATM serine/threonine kinase
|
|
AVP
|
arginine vasopressin
|
|
BCL2
|
B-cell CLL/lymphoma 2
|
|
BCL6
|
B-cell CLL/lymphoma 6
|
|
BIRC3
|
baculoviral IAP repeat containing 3
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BTK
|
Bruton agammaglobulinemia tyrosine kinase
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
CCND1
|
cyclin D1
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CYP24A1
|
cytochrome P450, family 24, subfamily A, polypeptide 1
|
|
DCTN1
|
dynactin 1
|
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
|
ECE1
|
endothelin converting enzyme 1
|
|
EDN3
|
endothelin 3
|
|
EDNRB
|
endothelin receptor type B
|
|
EPCAM
|
epithelial cell adhesion molecule
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
EWSR1
|
EWS RNA-binding protein 1
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCB
|
Fanconi anemia, complementation group B
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FANCF
|
Fanconi anemia, complementation group F
|
|
FANCG
|
Fanconi anemia, complementation group G
|
|
FANCI
|
Fanconi anemia, complementation group I
|
|
FANCL
|
Fanconi anemia, complementation group L
|
|
FANCM
|
Fanconi anemia, complementation group M
|
|
FOXG1
|
forkhead box G1
|
|
FOXP1
|
forkhead box P1
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GATA2
|
GATA binding protein 2
|
|
GATA4
|
GATA binding protein 4
|
|
GBA
|
glucosidase, beta, acid
|
|
GDNF
|
glial cell derived neurotrophic factor
|
|
GJB3
|
gap junction protein, beta 3, 31kDa
|
|
GJB4
|
gap junction protein, beta 4, 30.3kDa
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DPB1
|
major histocompatibility complex, class II, DP beta 1
|
|
HLA-DQB1
|
major histocompatibility complex, class II, DQ beta 1
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HLCS
|
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
IL10
|
interleukin 10
|
|
IL12B
|
interleukin 12B
|
|
IL12RB2
|
interleukin 12 receptor, beta 2
|
|
IL23R
|
interleukin 23 receptor
|
|
JAK2
|
Janus kinase 2
|
|
JPH3
|
junctophilin 3
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT1
|
keratin 1, type II
|
|
KRT10
|
keratin 10, type I
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
LIPA
|
lipase A, lysosomal acid, cholesterol esterase
|
|
LMNA
|
lamin A/C
|
|
LPIN2
|
lipin 2
|
|
LRRFIP2
|
leucine rich repeat (in FLII) interacting protein 2
|
|
MALT1
|
MALT1 paracaspase
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MEFV
|
Mediterranean fever
|
|
MLH1
|
mutL homolog 1
|
|
MLH3
|
mutL homolog 3
|
|
MLX
|
MLX, MAX dimerization protein
|
|
MPL
|
MPL proto-oncogene, thrombopoietin receptor
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
NME1
|
NME/NM23 nucleoside diphosphate kinase 1
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NRTN
|
neurturin
|
|
NTNG1
|
netrin G1
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PMS1
|
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POU6F2
|
POU class 6 homeobox 2
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRNP
|
prion protein
|
|
PRTN3
|
proteinase 3
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
PTPN3
|
protein tyrosine phosphatase, non-receptor type 3
|
|
RAD51C
|
RAD51 paralog C
|
|
RET
|
ret proto-oncogene
|
|
RHBDF2
|
rhomboid 5 homolog 2 (Drosophila)
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
SLC39A4
|
solute carrier family 39 (zinc transporter), member 4
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
TET2
|
tet methylcytosine dioxygenase 2
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
THPO
|
thrombopoietin
|
|
TLR4
|
toll-like receptor 4
|
|
TYMP
|
thymidine phosphorylase
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
WT1
|
Wilms tumor 1
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
