| Symbol |
Name |
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
AGA
|
aspartylglucosaminidase
|
|
AHI1
|
Abelson helper integration site 1
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
ARL13B
|
ADP-ribosylation factor-like 13B
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
B9D1
|
B9 protein domain 1
|
|
BCOR
|
BCL6 corepressor
|
|
BCR
|
breakpoint cluster region
|
|
BIN1
|
bridging integrator 1
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRWD3
|
bromodomain and WD repeat domain containing 3
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
CAMTA1
|
calmodulin binding transcription activator 1
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CHRNB1
|
cholinergic receptor, nicotinic, beta 1 (muscle)
|
|
CHRNE
|
cholinergic receptor, nicotinic, epsilon (muscle)
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CLCF1
|
cardiotrophin-like cytokine factor 1
|
|
COMT
|
catechol-O-methyltransferase
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
CRLF1
|
cytokine receptor-like factor 1
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
FBN1
|
fibrillin 1
|
|
FGF3
|
fibroblast growth factor 3
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
FMR1
|
fragile X mental retardation 1
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
HDAC4
|
histone deacetylase 4
|
|
HIRA
|
histone cell cycle regulator
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
IDUA
|
iduronidase, alpha-L-
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KIF7
|
kinesin family member 7
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
MAN1B1
|
mannosidase, alpha, class 1B, member 1
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MED12
|
mediator complex subunit 12
|
|
MEIS2
|
Meis homeobox 2
|
|
MGP
|
matrix Gla protein
|
|
MID2
|
midline 2
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
MOCS1
|
molybdenum cofactor synthesis 1
|
|
MOCS2
|
molybdenum cofactor synthesis 2
|
|
MTM1
|
myotubularin 1
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
NBAS
|
neuroblastoma amplified sequence
|
|
NF1
|
neurofibromin 1
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NHS
|
Nance-Horan syndrome (congenital cataracts and dental anomalies)
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OPHN1
|
oligophrenin 1
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PEX13
|
peroxisomal biogenesis factor 13
|
|
PHF8
|
PHD finger protein 8
|
|
POC1A
|
POC1 centriolar protein A
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PTCH1
|
patched 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
RAB39B
|
RAB39B, member RAS oncogene family
|
|
RAI1
|
retinoic acid induced 1
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RECQL4
|
RecQ protein-like 4
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SATB2
|
SATB homeobox 2
|
|
SEPN1
|
selenoprotein N, 1
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC2A10
|
solute carrier family 2 (facilitated glucose transporter), member 10
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
STRADA
|
STE20-related kinase adaptor alpha
|
|
TBX1
|
T-box 1
|
|
TCTN1
|
tectonic family member 1
|
|
TCTN2
|
tectonic family member 2
|
|
TCTN3
|
tectonic family member 3
|
|
TMEM138
|
transmembrane protein 138
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM67
|
transmembrane protein 67
|
|
TPM3
|
tropomyosin 3
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
UBE3B
|
ubiquitin protein ligase E3B
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
UPF3B
|
UPF3 regulator of nonsense transcripts homolog B (yeast)
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
|
ZNF423
|
zinc finger protein 423
|
