| Symbol |
Name |
|
AGA
|
aspartylglucosaminidase
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
AP4B1
|
adaptor-related protein complex 4, beta 1 subunit
|
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATR
|
ATR serine/threonine kinase
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
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
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BRWD3
|
bromodomain and WD repeat domain containing 3
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL5A1
|
collagen, type V, alpha 1
|
|
COL5A2
|
collagen, type V, alpha 2
|
|
CREBBP
|
CREB binding protein
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
CRLF1
|
cytokine receptor-like factor 1
|
|
CTSC
|
cathepsin C
|
|
CUL4B
|
cullin 4B
|
|
CUL7
|
cullin 7
|
|
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
|
|
FBN1
|
fibrillin 1
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FKBP14
|
FK506 binding protein 14, 22 kDa
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXG1
|
forkhead box G1
|
|
GAN
|
gigaxonin
|
|
GARS
|
glycyl-tRNA synthetase
|
|
GORAB
|
golgin, RAB6-interacting
|
|
GRM1
|
glutamate receptor, metabotropic 1
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
KIF22
|
kinesin family member 22
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
METTL23
|
methyltransferase like 23
|
|
MGAT2
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
|
|
MMP2
|
matrix metallopeptidase 2
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
RAB33B
|
RAB33B, member RAS oncogene family
|
|
RAB7A
|
RAB7A, member RAS oncogene family
|
|
RAD51C
|
RAD51 paralog C
|
|
RAI1
|
retinoic acid induced 1
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RIN2
|
Ras and Rab interactor 2
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SBF1
|
SET binding factor 1
|
|
SEC23A
|
Sec23 homolog A (S. cerevisiae)
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SKI
|
SKI proto-oncogene
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC39A13
|
solute carrier family 39 (zinc transporter), member 13
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMAD3
|
SMAD family member 3
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX2
|
T-box 2
|
|
TBX4
|
T-box 4
|
|
TCF4
|
transcription factor 4
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGFB2
|
transforming growth factor, beta 2
|
|
TGFB3
|
transforming growth factor, beta 3
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TNXB
|
tenascin XB
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
VLDLR
|
very low density lipoprotein receptor
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
XYLT1
|
xylosyltransferase I
|
|
ZDHHC9
|
zinc finger, DHHC-type containing 9
|
