| Symbol |
Name |
|
ACTN4
|
actinin, alpha 4
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ANKH
|
ANKH inorganic pyrophosphate transport regulator
|
|
APC
|
adenomatous polyposis coli
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL4A5
|
collagen, type IV, alpha 5
|
|
CREBBP
|
CREB binding protein
|
|
DMD
|
dystrophin
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
EFNB1
|
ephrin-B1
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
ELANE
|
elastase, neutrophil expressed
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FLNA
|
filamin A, alpha
|
|
FMR1
|
fragile X mental retardation 1
|
|
GH1
|
growth hormone 1
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GNAS
|
GNAS complex locus
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
IGF2
|
insulin-like growth factor 2
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IL2RG
|
interleukin 2 receptor, gamma
|
|
INS
|
insulin
|
|
KIF21A
|
kinesin family member 21A
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT10
|
keratin 10, type I
|
|
LAMB3
|
laminin, beta 3
|
|
LMNA
|
lamin A/C
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MYH8
|
myosin, heavy chain 8, skeletal muscle, perinatal
|
|
NF1
|
neurofibromin 1
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
PCDH19
|
protocadherin 19
|
|
PEX12
|
peroxisomal biogenesis factor 12
|
|
PHOX2B
|
paired-like homeobox 2b
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RB1
|
retinoblastoma 1
|
|
RET
|
ret proto-oncogene
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SLC35A2
|
solute carrier family 35 (UDP-galactose transporter), member A2
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SPAST
|
spastin
|
|
SRY
|
sex determining region Y
|
|
SUZ12
|
SUZ12 polycomb repressive complex 2 subunit
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TNNI2
|
troponin I type 2 (skeletal, fast)
|
|
TP63
|
tumor protein p63
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TUBA1A
|
tubulin, alpha 1a
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
WAS
|
Wiskott-Aldrich syndrome
|
