| Symbol |
Name |
|
ADNP
|
activity-dependent neuroprotector homeobox
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
AP3D1
|
adaptor-related protein complex 3, delta 1 subunit
|
|
APH1A
|
APH1A gamma secretase subunit
|
|
ARCN1
|
archain 1
|
|
ARHGEF2
|
Rho/Rac guanine nucleotide exchange factor (GEF) 2
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARSG
|
arylsulfatase G
|
|
ART1
|
ADP-ribosyltransferase 1
|
|
ATR
|
ATR serine/threonine kinase
|
|
AUTS2
|
autism susceptibility candidate 2
|
|
BBS1
|
Bardet-Biedl syndrome 1
|
|
BLOC1S3
|
biogenesis of lysosomal organelles complex-1, subunit 3
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
C1QBP
|
complement component 1, q subcomponent binding protein
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCDC28B
|
coiled-coil domain containing 28B
|
|
CCL1
|
chemokine (C-C motif) ligand 1
|
|
CCL21
|
chemokine (C-C motif) ligand 21
|
|
CDK13
|
cyclin-dependent kinase 13
|
|
CEP78
|
centrosomal protein 78kDa
|
|
CHD3
|
chromodomain helicase DNA binding protein 3
|
|
CHD4
|
chromodomain helicase DNA binding protein 4
|
|
CHD6
|
chromodomain helicase DNA binding protein 6
|
|
CHMP1A
|
charged multivesicular body protein 1A
|
|
CHRDL1
|
chordin-like 1
|
|
CLDN16
|
claudin 16
|
|
CLDN19
|
claudin 19
|
|
CLRN1
|
clarin 1
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL9A1
|
collagen, type IX, alpha 1
|
|
COL9A2
|
collagen, type IX, alpha 2
|
|
COL9A3
|
collagen, type IX, alpha 3
|
|
CREBZF
|
CREB/ATF bZIP transcription factor
|
|
CYLD
|
cylindromatosis (turban tumor syndrome)
|
|
DNAH5
|
dynein, axonemal, heavy chain 5
|
|
DNAJC21
|
DnaJ (Hsp40) homolog, subfamily C, member 21
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
EBF3
|
early B-cell factor 3
|
|
ECEL1
|
endothelin converting enzyme-like 1
|
|
EGFR
|
epidermal growth factor receptor
|
|
EMC1
|
ER membrane protein complex subunit 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC3
|
excision repair cross-complementation group 3
|
|
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
|
|
FTMT
|
ferritin mitochondrial
|
|
GLRB
|
glycine receptor, beta
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GPR143
|
G protein-coupled receptor 143
|
|
GRIN2B
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
|
|
GTF2E2
|
general transcription factor IIE, polypeptide 2, beta 34kDa
|
|
GTF2H5
|
general transcription factor IIH, polypeptide 5
|
|
H3F3A
|
H3 histone, family 3A
|
|
HARS1
|
histidyl-tRNA synthetase 1
|
|
HERC2
|
HECT and RLD domain containing E3 ubiquitin protein ligase 2
|
|
HIST1H1E
|
histone cluster 1, H1e
|
|
IFT54
|
intraflagellar transport 54
|
|
IGFBP7
|
insulin-like growth factor binding protein 7
|
|
KCNV2
|
potassium channel, voltage gated modifier subfamily V, member 2
|
|
KDM5B
|
lysine (K)-specific demethylase 5B
|
|
KIDINS220
|
kinase D-interacting substrate, 220kDa
|
|
LOXL3
|
lysyl oxidase-like 3
|
|
LVRN
|
laeverin
|
|
MAD2L2
|
MAD2 mitotic arrest deficient-like 2 (yeast)
|
|
MAG
|
myelin associated glycoprotein
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MELTF
|
melanotransferrin
|
|
MFF
|
mitochondrial fission factor
|
|
MPLKIP
|
M-phase specific PLK1 interacting protein
|
|
NEUROD2
|
neuronal differentiation 2
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NPLOC4
|
nuclear protein localization 4 homolog (S. cerevisiae)
|
|
OCA2
|
oculocutaneous albinism II
|
|
P4HTM
|
prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)
|
|
PACS2
|
phosphofurin acidic cluster sorting protein 2
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PCYT1A
|
phosphate cytidylyltransferase 1, choline, alpha
|
|
PDGFRA
|
platelet-derived growth factor receptor, alpha polypeptide
|
|
PHIP
|
pleckstrin homology domain interacting protein
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PLXNA2
|
plexin A2
|
|
POGZ
|
pogo transposable element with ZNF domain
|
|
PRMT7
|
protein arginine methyltransferase 7
|
|
PRRX2
|
paired related homeobox 2
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PYCARD
|
PYD and CARD domain containing
|
|
RAD51
|
RAD51 recombinase
|
|
RAD51C
|
RAD51 paralog C
|
|
RFWD3
|
ring finger and WD repeat domain 3
|
|
RNF113A
|
ring finger protein 113A
|
|
SETD5
|
SET domain containing 5
|
|
SFPQ
|
splicing factor proline/glutamine-rich
|
|
SGSM1
|
small G protein signaling modulator 1
|
|
SLC25A24
|
solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24
|
|
SLC39A8
|
solute carrier family 39 (zinc transporter), member 8
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SPATA5
|
spermatogenesis associated 5
|
|
STAR
|
steroidogenic acute regulatory protein
|
|
TBCE
|
tubulin folding cofactor E
|
|
TCF4
|
transcription factor 4
|
|
TEAD1
|
TEA domain family member 1 (SV40 transcriptional enhancer factor)
|
|
TGFB2
|
transforming growth factor, beta 2
|
|
THOP1
|
thimet oligopeptidase 1
|
|
TMTC3
|
transmembrane and tetratricopeptide repeat containing 3
|
|
TNMD
|
tenomodulin
|
|
TRIM37
|
tripartite motif containing 37
|
|
TRIM8
|
tripartite motif containing 8
|
|
TUB
|
tubby bipartite transcription factor
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
TYMS
|
thymidylate synthetase
|
|
TYR
|
tyrosinase
|
|
UBE2T
|
ubiquitin-conjugating enzyme E2T
|
|
UBE3B
|
ubiquitin protein ligase E3B
|
|
USP9X
|
ubiquitin specific peptidase 9, X-linked
|
|
VARS
|
valyl-tRNA synthetase
|
|
VAX2
|
ventral anterior homeobox 2
|
|
VSX1
|
visual system homeobox 1
|
|
WAC
|
WW domain containing adaptor with coiled-coil
|
|
XRCC2
|
X-ray repair complementing defective repair in Chinese hamster cells 2
|
|
ZDHHC24
|
zinc finger, DHHC-type containing 24
|
