| Symbol |
Name |
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
AFF3
|
AF4/FMR2 family, member 3
|
|
AKT2
|
v-akt murine thymoma viral oncogene homolog 2
|
|
ANKH
|
ANKH inorganic pyrophosphate transport regulator
|
|
APC
|
adenomatous polyposis coli
|
|
AQP5
|
aquaporin 5
|
|
ATM
|
ATM serine/threonine kinase
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BIN1
|
bridging integrator 1
|
|
BUB1
|
BUB1 mitotic checkpoint serine/threonine kinase
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
BUB3
|
BUB3 mitotic checkpoint protein
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
CREBBP
|
CREB binding protein
|
|
DCX
|
doublecortin
|
|
EFNB1
|
ephrin-B1
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
FAH
|
fumarylacetoacetate hydrolase (fumarylacetoacetase)
|
|
FMR1
|
fragile X mental retardation 1
|
|
FRA2A
|
fragile site, folic acid type, rare, fra(2)(q11.2)
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
HLA-DQA1
|
major histocompatibility complex, class II, DQ alpha 1
|
|
IDH1
|
isocitrate dehydrogenase 1 (NADP+), soluble
|
|
IDH2
|
isocitrate dehydrogenase 2 (NADP+), mitochondrial
|
|
KCNV2
|
potassium channel, voltage gated modifier subfamily V, member 2
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
MED12
|
mediator complex subunit 12
|
|
MLH1
|
mutL homolog 1
|
|
NF1
|
neurofibromin 1
|
|
NF2
|
neurofibromin 2 (merlin)
|
|
PPM1D
|
protein phosphatase, Mg2+/Mn2+ dependent, 1D
|
|
PSEN1
|
presenilin 1
|
|
RDH5
|
retinol dehydrogenase 5 (11-cis/9-cis)
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SRF
|
serum response factor (c-fos serum response element-binding transcription factor)
|
|
SRY
|
sex determining region Y
|
|
TCF4
|
transcription factor 4
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
ZFP57
|
ZFP57 zinc finger protein
|
