| Symbol |
Name |
|
B9D1
|
B9 protein domain 1
|
|
B9D2
|
B9 protein domain 2
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BTRC
|
beta-transducin repeat containing E3 ubiquitin protein ligase
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CHN1
|
chimerin 1
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
|
DLX5
|
distal-less homeobox 5
|
|
ELN
|
elastin
|
|
ELP4
|
elongator acetyltransferase complex subunit 4
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
FAM111A
|
family with sequence similarity 111, 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
|
|
FBN1
|
fibrillin 1
|
|
FBXW4
|
F-box and WD repeat domain containing 4
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FOXC1
|
forkhead box C1
|
|
FOXE3
|
forkhead box E3
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
HHAT
|
hedgehog acyltransferase
|
|
LAMB2
|
laminin, beta 2 (laminin S)
|
|
LIMK1
|
LIM domain kinase 1
|
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MKS1
|
Meckel syndrome, type 1
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PAX3
|
paired box 3
|
|
PAX6
|
paired box 6
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PITX2
|
paired-like homeodomain 2
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
POU6F2
|
POU class 6 homeobox 2
|
|
RAD51C
|
RAD51 paralog C
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SHFM1
|
split hand/foot malformation (ectrodactyly) type 1
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
STIM1
|
stromal interaction molecule 1
|
|
TBL2
|
transducin (beta)-like 2
|
|
TCTN2
|
tectonic family member 2
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM67
|
transmembrane protein 67
|
|
TP63
|
tumor protein p63
|
|
TRIM37
|
tripartite motif containing 37
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WNT10B
|
wingless-type MMTV integration site family, member 10B
|
|
WT1
|
Wilms tumor 1
|
