| Symbol |
Name |
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ACSL4
|
acyl-CoA synthetase long-chain family member 4
|
|
ACTB
|
actin, beta
|
|
ADAMTS10
|
ADAM metallopeptidase with thrombospondin type 1 motif, 10
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
AMMECR1
|
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
|
|
ANKS6
|
ankyrin repeat and sterile alpha motif domain containing 6
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
B3GAT3
|
beta-1,3-glucuronyltransferase 3
|
|
B4GALT7
|
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCR
|
breakpoint cluster region
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
CBL
|
Cbl proto-oncogene, E3 ubiquitin protein ligase
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COMT
|
catechol-O-methyltransferase
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
CYP24A1
|
cytochrome P450, family 24, subfamily A, polypeptide 1
|
|
D2HGDH
|
D-2-hydroxyglutarate dehydrogenase
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
ELN
|
elastin
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
FAM58A
|
family with sequence similarity 58, member A
|
|
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
|
|
FLNA
|
filamin A, alpha
|
|
FOXF1
|
forkhead box F1
|
|
GBA
|
glucosidase, beta, acid
|
|
GLA
|
galactosidase, alpha
|
|
GLB1
|
galactosidase, beta 1
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GNPTG
|
N-acetylglucosamine-1-phosphate transferase, gamma subunit
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HGD
|
homogentisate 1,2-dioxygenase
|
|
HIRA
|
histone cell cycle regulator
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFT122
|
intraflagellar transport 122
|
|
IL10
|
interleukin 10
|
|
IL12B
|
interleukin 12B
|
|
IL12RB2
|
interleukin 12 receptor, beta 2
|
|
IL23R
|
interleukin 23 receptor
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KCNE5
|
potassium channel, voltage gated subfamily E regulatory beta subunit 5
|
|
KIAA0196
|
KIAA0196
|
|
LIMK1
|
LIM domain kinase 1
|
|
LTBP2
|
latent transforming growth factor beta binding protein 2
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MEFV
|
Mediterranean fever
|
|
MLX
|
MLX, MAX dimerization protein
|
|
MYH11
|
myosin, heavy chain 11, smooth muscle
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOTCH1
|
notch 1
|
|
NOTCH2
|
notch 2
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NR2F2
|
nuclear receptor subfamily 2, group F, member 2
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PDSS1
|
prenyl (decaprenyl) diphosphate synthase, subunit 1
|
|
RAD51C
|
RAD51 paralog C
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RPL26
|
ribosomal protein L26
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SH2B1
|
SH2B adaptor protein 1
|
|
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
|
|
SNIP1
|
Smad nuclear interacting protein 1
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
TAB2
|
TGF-beta activated kinase 1/MAP3K7 binding protein 2
|
|
TAF2
|
TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TGFB2
|
transforming growth factor, beta 2
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TLR4
|
toll-like receptor 4
|
|
TMEM70
|
transmembrane protein 70
|
|
TTC37
|
tetratricopeptide repeat domain 37
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
VWF
|
von Willebrand factor
|
