| Symbol |
Name |
|
ABCB6
|
ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
|
|
ALX1
|
ALX homeobox 1
|
|
ALX3
|
ALX homeobox 3
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ARX
|
aristaless related homeobox
|
|
ATOH7
|
atonal homolog 7 (Drosophila)
|
|
ATR
|
ATR serine/threonine kinase
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GAT3
|
beta-1,3-glucuronyltransferase 3
|
|
BCOR
|
BCL6 corepressor
|
|
BEST1
|
bestrophin 1
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CRYAA
|
crystallin, alpha A
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC3
|
excision repair cross-complementation group 3
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FANCG
|
Fanconi anemia, complementation group G
|
|
FBN1
|
fibrillin 1
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FOXE3
|
forkhead box E3
|
|
FOXL2
|
forkhead box L2
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM1
|
FRAS1 related extracellular matrix 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
GDF3
|
growth differentiation factor 3
|
|
GDF6
|
growth differentiation factor 6
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GLI2
|
GLI family zinc finger 2
|
|
GLI3
|
GLI family zinc finger 3
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
HCCS
|
holocytochrome c synthase
|
|
HDAC6
|
histone deacetylase 6
|
|
HMGB3
|
high mobility group box 3
|
|
HMX1
|
H6 family homeobox 1
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
KCNJ1
|
potassium channel, inwardly rectifying subfamily J, member 1
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
MFRP
|
membrane frizzled-related protein
|
|
MKS1
|
Meckel syndrome, type 1
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NHS
|
Nance-Horan syndrome (congenital cataracts and dental anomalies)
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
PAX2
|
paired box 2
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIGV
|
phosphatidylinositol glycan anchor biosynthesis, class V
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3R2
|
phosphoinositide-3-kinase, regulatory subunit 2 (beta)
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMGNT2
|
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
|
|
POMK
|
protein-O-mannose kinase
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
PTCH1
|
patched 1
|
|
PTCH2
|
patched 2
|
|
PXDN
|
peroxidasin
|
|
RAB18
|
RAB18, member RAS oncogene family
|
|
RAB3GAP1
|
RAB3 GTPase activating protein subunit 1 (catalytic)
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RARB
|
retinoic acid receptor, beta
|
|
RAX
|
retina and anterior neural fold homeobox
|
|
RBBP8
|
retinoblastoma binding protein 8
|
|
RECQL4
|
RecQ protein-like 4
|
|
RIPK4
|
receptor-interacting serine-threonine kinase 4
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SH3PXD2B
|
SH3 and PX domains 2B
|
|
SHH
|
sonic hedgehog
|
|
SIX3
|
SIX homeobox 3
|
|
SIX6
|
SIX homeobox 6
|
|
SLC38A8
|
solute carrier family 38, member 8
|
|
SMAD4
|
SMAD family member 4
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
STRA6
|
stimulated by retinoic acid 6
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TBX15
|
T-box 15
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TCTN2
|
tectonic family member 2
|
|
TENM3
|
teneurin transmembrane protein 3
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM237
|
transmembrane protein 237
|
|
TUBB
|
tubulin, beta class I
|
|
TUBGCP6
|
tubulin, gamma complex associated protein 6
|
|
VSX2
|
visual system homeobox 2
|
|
WNT3
|
wingless-type MMTV integration site family, member 3
|
|
YAP1
|
Yes-associated protein 1
|
