| Symbol |
Name |
|
ABCD4
|
ATP-binding cassette, sub-family D (ALD), member 4
|
|
ACTA2
|
actin, alpha 2, smooth muscle, aorta
|
|
ACVR2B
|
activin A receptor, type IIB
|
|
ADK
|
adenosine kinase
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
B3GAT3
|
beta-1,3-glucuronyltransferase 3
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCR
|
breakpoint cluster region
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BUB1
|
BUB1 mitotic checkpoint serine/threonine kinase
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
BUB3
|
BUB3 mitotic checkpoint protein
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
CCDC22
|
coiled-coil domain containing 22
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL5A1
|
collagen, type V, alpha 1
|
|
COL5A2
|
collagen, type V, alpha 2
|
|
COMT
|
catechol-O-methyltransferase
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CREBBP
|
CREB binding protein
|
|
CRELD1
|
cysteine-rich with EGF-like domains 1
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
|
DSE
|
dermatan sulfate epimerase
|
|
EFEMP2
|
EGF containing fibulin-like extracellular matrix protein 2
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
ELN
|
elastin
|
|
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
|
|
FBLN5
|
fibulin 5
|
|
FBN1
|
fibrillin 1
|
|
FBN2
|
fibrillin 2
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXF1
|
forkhead box F1
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GATA4
|
GATA binding protein 4
|
|
GATA6
|
GATA binding protein 6
|
|
GBA
|
glucosidase, beta, acid
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GLI3
|
GLI family zinc finger 3
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HCCS
|
holocytochrome c synthase
|
|
HDAC4
|
histone deacetylase 4
|
|
HGD
|
homogentisate 1,2-dioxygenase
|
|
HIRA
|
histone cell cycle regulator
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HNF1B
|
HNF1 homeobox B
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
IL12B
|
interleukin 12B
|
|
JAG1
|
jagged 1
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KIAA0196
|
KIAA0196
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LEMD3
|
LEM domain containing 3
|
|
LHX1
|
LIM homeobox 1
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMNA
|
lamin A/C
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MED12
|
mediator complex subunit 12
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MLX
|
MLX, MAX dimerization protein
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MT-TF
|
tRNA
|
|
MT-TH
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
MYH11
|
myosin, heavy chain 11, smooth muscle
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYLK
|
myosin light chain kinase
|
|
ND1
|
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NR2F2
|
nuclear receptor subfamily 2, group F, member 2
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PIK3R2
|
phosphoinositide-3-kinase, regulatory subunit 2 (beta)
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
PRDM16
|
PR domain containing 16
|
|
PRKG1
|
protein kinase, cGMP-dependent, type I
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
RAD51C
|
RAD51 paralog C
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPS19
|
ribosomal protein S19
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SKI
|
SKI proto-oncogene
|
|
SLC2A10
|
solute carrier family 2 (facilitated glucose transporter), member 10
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMAD3
|
SMAD family member 3
|
|
SMAD4
|
SMAD family member 4
|
|
SMAD6
|
SMAD family member 6
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
STRA6
|
stimulated by retinoic acid 6
|
|
TAB2
|
TGF-beta activated kinase 1/MAP3K7 binding protein 2
|
|
TALDO1
|
transaldolase 1
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TBX20
|
T-box 20
|
|
TBX5
|
T-box 5
|
|
TGFB2
|
transforming growth factor, beta 2
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TNXB
|
tenascin XB
|
|
UBE3B
|
ubiquitin protein ligase E3B
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
WT1
|
Wilms tumor 1
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
