| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BIRC3
|
baculoviral IAP repeat containing 3
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DST
|
dystonin
|
|
ELN
|
elastin
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FOXP1
|
forkhead box P1
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM1
|
FRAS1 related extracellular matrix 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GMPPA
|
GDP-mannose pyrophosphorylase A
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
IKBKAP
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LIMK1
|
LIM domain kinase 1
|
|
MALT1
|
MALT1 paracaspase
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
PAX1
|
paired box 1
|
|
PAX3
|
paired box 3
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
|
SETBP1
|
SET binding protein 1
|
|
SIX1
|
SIX homeobox 1
|
|
SIX5
|
SIX homeobox 5
|
|
SMARCA4
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SMARCE1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
TBL2
|
transducin (beta)-like 2
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TP63
|
tumor protein p63
|
|
TWIST2
|
twist family bHLH transcription factor 2
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
