| Symbol |
Name |
|
AFF3
|
AF4/FMR2 family, member 3
|
|
ALDH18A1
|
aldehyde dehydrogenase 18 family, member A1
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ASPA
|
aspartoacylase
|
|
AZF1
|
azoospermia factor 1
|
|
BRCA1
|
breast cancer 1, early onset
|
|
CALCA
|
calcitonin-related polypeptide alpha
|
|
COX3
|
|
|
CREBBP
|
CREB binding protein
|
|
CYP17A1
|
cytochrome P450, family 17, subfamily A, polypeptide 1
|
|
CYP26B1
|
cytochrome P450, family 26, subfamily B, polypeptide 1
|
|
DEL7Q11.23
|
Chromosome 7q11.23 deletion syndrome, distal, 1.2Mb
|
|
DISP1
|
dispatched homolog 1 (Drosophila)
|
|
DLG1
|
discs, large homolog 1 (Drosophila)
|
|
ELN
|
elastin
|
|
ERG
|
v-ets avian erythroblastosis virus E26 oncogene homolog
|
|
EVX2
|
even-skipped homeobox 2
|
|
EXOC6B
|
exocyst complex component 6B
|
|
FBXO28
|
F-box protein 28
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXL2
|
forkhead box L2
|
|
GLRA1
|
glycine receptor, alpha 1
|
|
GNAS
|
GNAS complex locus
|
|
GRIN2A
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2A
|
|
GSTP1
|
glutathione S-transferase pi 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HOXD13
|
homeobox D13
|
|
HOXD9
|
homeobox D9
|
|
IKZF1
|
IKAROS family zinc finger 1 (Ikaros)
|
|
LAMP2
|
lysosomal-associated membrane protein 2
|
|
LGI1
|
leucine-rich, glioma inactivated 1
|
|
LYL1
|
lymphoblastic leukemia associated hematopoiesis regulator 1
|
|
MACROD2
|
MACRO domain containing 2
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MAPT
|
microtubule-associated protein tau
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MIR204
|
microRNA 204
|
|
MIR424
|
microRNA 424
|
|
MT-ATP6
|
ATP synthase F0 subunit 6
|
|
NF1
|
neurofibromin 1
|
|
NRSN2
|
neurensin 2
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
PAK2
|
p21 protein (Cdc42/Rac)-activated kinase 2
|
|
PHF6
|
PHD finger protein 6
|
|
PKD1
|
polycystic kidney disease 1 (autosomal dominant)
|
|
PML
|
promyelocytic leukemia
|
|
PTCH1
|
patched 1
|
|
PTHLH
|
parathyroid hormone-like hormone
|
|
PTPRD
|
protein tyrosine phosphatase, receptor type, D
|
|
PURA
|
purine-rich element binding protein A
|
|
RALGAPA1
|
Ral GTPase activating protein, alpha subunit 1 (catalytic)
|
|
RNF135
|
ring finger protein 135
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RUNX1
|
runt-related transcription factor 1
|
|
SATB2
|
SATB homeobox 2
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SETBP1
|
SET binding protein 1
|
|
SGCE
|
sarcoglycan, epsilon
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SKI
|
SKI proto-oncogene
|
|
SOX12
|
SRY (sex determining region Y)-box 12
|
|
SPINK1
|
serine peptidase inhibitor, Kazal type 1
|
|
SPPL2A
|
signal peptide peptidase like 2A
|
|
STS
|
steroid sulfatase (microsomal), isozyme S
|
|
STX16
|
syntaxin 16
|
|
SUMO3
|
small ubiquitin-like modifier 3
|
|
SYK
|
spleen tyrosine kinase
|
|
TBX2
|
T-box 2
|
|
TBX4
|
T-box 4
|
|
TMPRSS2
|
transmembrane protease, serine 2
|
|
TSC2
|
tuberous sclerosis 2
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
USP9Y
|
ubiquitin specific peptidase 9, Y-linked
|
|
VEGFA
|
vascular endothelial growth factor A
|
|
ZNF778
|
zinc finger protein 778
|
