| Symbol |
Name |
|
ADAMTSL2
|
ADAMTS-like 2
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ARMC4
|
armadillo repeat containing 4
|
|
ATM
|
ATM serine/threonine kinase
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
BLNK
|
B-cell linker
|
|
BMPER
|
BMP binding endothelial regulator
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
C1R
|
complement component 1, r subcomponent
|
|
C21ORF59
|
chromosome 21 open reading frame 59
|
|
CCDC103
|
coiled-coil domain containing 103
|
|
CCDC114
|
coiled-coil domain containing 114
|
|
CCDC39
|
coiled-coil domain containing 39
|
|
CCDC40
|
coiled-coil domain containing 40
|
|
CCDC65
|
coiled-coil domain containing 65
|
|
CCNO
|
cyclin O
|
|
CD19
|
CD19 molecule
|
|
CD79A
|
CD79a molecule, immunoglobulin-associated alpha
|
|
CD79B
|
CD79b molecule, immunoglobulin-associated beta
|
|
CD81
|
CD81 molecule
|
|
CD8A
|
CD8a molecule
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
CR2
|
complement component (3d/Epstein Barr virus) receptor 2
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CYBA
|
cytochrome b-245, alpha polypeptide
|
|
CYBB
|
cytochrome b-245, beta polypeptide
|
|
DDR2
|
discoidin domain receptor tyrosine kinase 2
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DICER1
|
dicer 1, ribonuclease type III
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DLEC1
|
deleted in lung and esophageal cancer 1
|
|
DNAAF1
|
dynein, axonemal, assembly factor 1
|
|
DNAAF3
|
dynein, axonemal, assembly factor 3
|
|
DNAH11
|
dynein, axonemal, heavy chain 11
|
|
DNAI1
|
dynein, axonemal, intermediate chain 1
|
|
DNAI2
|
dynein, axonemal, intermediate chain 2
|
|
DNAL1
|
dynein, axonemal, light chain 1
|
|
DNMT3B
|
DNA (cytosine-5-)-methyltransferase 3 beta
|
|
DRC1
|
dynein regulatory complex subunit 1
|
|
DYX1C1
|
dyslexia susceptibility 1 candidate 1
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
EGFR
|
epidermal growth factor receptor
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
ELN
|
elastin
|
|
ERBB2
|
erb-b2 receptor tyrosine kinase 2
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
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
|
|
FBN1
|
fibrillin 1
|
|
FBN2
|
fibrillin 2
|
|
FERMT1
|
fermitin family member 1
|
|
FGF20
|
fibroblast growth factor 20
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
FOXF1
|
forkhead box F1
|
|
FOXI1
|
forkhead box I1
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
GLI3
|
GLI family zinc finger 3
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HDAC4
|
histone deacetylase 4
|
|
HESX1
|
HESX homeobox 1
|
|
HOXD13
|
homeobox D13
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HYDIN
|
HYDIN, axonemal central pair apparatus protein
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
ICOS
|
inducible T-cell co-stimulator
|
|
IDS
|
iduronate 2-sulfatase
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IGHM
|
immunoglobulin heavy constant mu
|
|
IGLL1
|
immunoglobulin lambda-like polypeptide 1
|
|
IL21R
|
interleukin 21 receptor
|
|
IL2RG
|
interleukin 2 receptor, gamma
|
|
IRF1
|
interferon regulatory factor 1
|
|
ITGA8
|
integrin, alpha 8
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KIF22
|
kinesin family member 22
|
|
KIF7
|
kinesin family member 7
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LAMA3
|
laminin, alpha 3
|
|
LBR
|
lamin B receptor
|
|
LIMK1
|
LIM domain kinase 1
|
|
LRBA
|
LPS-responsive vesicle trafficking, beach and anchor containing
|
|
LRRC6
|
leucine rich repeat containing 6
|
|
LRRC8A
|
leucine rich repeat containing 8 family, member A
|
|
LTBP4
|
latent transforming growth factor beta binding protein 4
|
|
MAP3K8
|
mitogen-activated protein kinase kinase kinase 8
|
|
MGP
|
matrix Gla protein
|
|
MMP1
|
matrix metallopeptidase 1
|
|
MS4A1
|
membrane-spanning 4-domains, subfamily A, member 1
|
|
MYCN
|
v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
|
|
NBN
|
nibrin
|
|
NCF1
|
neutrophil cytosolic factor 1
|
|
NCF2
|
neutrophil cytosolic factor 2
|
|
NCF4
|
neutrophil cytosolic factor 4, 40kDa
|
|
NFKB2
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
|
|
NHP2
|
NHP2 ribonucleoprotein
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
NOTCH3
|
notch 3
|
|
ORC4
|
origin recognition complex, subunit 4
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PAX3
|
paired box 3
|
|
PCNT
|
pericentrin
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PGM3
|
phosphoglucomutase 3
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3CD
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
POLR1C
|
polymerase (RNA) I polypeptide C, 30kDa
|
|
POLR1D
|
polymerase (RNA) I polypeptide D, 16kDa
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
PPP2R1B
|
protein phosphatase 2, regulatory subunit A, beta
|
|
PRKCD
|
protein kinase C, delta
|
|
PROKR2
|
prokineticin receptor 2
|
|
PRRX1
|
paired related homeobox 1
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAD51C
|
RAD51 paralog C
|
|
RAI1
|
retinoic acid induced 1
|
|
RASSF1
|
Ras association (RalGDS/AF-6) domain family member 1
|
|
RET
|
ret proto-oncogene
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RIN2
|
Ras and Rab interactor 2
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RSPH1
|
radial spoke head 1 homolog (Chlamydomonas)
|
|
RSPH4A
|
radial spoke head 4 homolog A (Chlamydomonas)
|
|
RSPH9
|
radial spoke head 9 homolog (Chlamydomonas)
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
SCNN1A
|
sodium channel, non voltage gated 1 alpha subunit
|
|
SCNN1B
|
sodium channel, non voltage gated 1 beta subunit
|
|
SCNN1G
|
sodium channel, non voltage gated 1 gamma subunit
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SFTPA2
|
surfactant protein A2
|
|
SLC22A18
|
solute carrier family 22, member 18
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMAD4
|
SMAD family member 4
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SPAG1
|
sperm associated antigen 1
|
|
TAP1
|
transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
|
|
TAP2
|
transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
|
|
TAPBP
|
TAP binding protein (tapasin)
|
|
TBL2
|
transducin (beta)-like 2
|
|
TCF3
|
transcription factor 3
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TNFRSF13B
|
tumor necrosis factor receptor superfamily, member 13B
|
|
TNFRSF13C
|
tumor necrosis factor receptor superfamily, member 13C
|
|
TNFSF12
|
tumor necrosis factor (ligand) superfamily, member 12
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
WNT3
|
wingless-type MMTV integration site family, member 3
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
|
WRAP53
|
WD repeat containing, antisense to TP53
|
|
ZIC3
|
Zic family member 3
|
|
ZMYND10
|
zinc finger, MYND-type containing 10
|
