| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
AGT
|
angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
|
|
APC
|
adenomatous polyposis coli
|
|
AQP1
|
aquaporin 1 (Colton blood group)
|
|
ATL1
|
atlastin GTPase 1
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
AVP
|
arginine vasopressin
|
|
BBS4
|
Bardet-Biedl syndrome 4
|
|
BRCA2
|
breast cancer 2, early onset
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CASR
|
calcium-sensing receptor
|
|
CDKN1B
|
cyclin-dependent kinase inhibitor 1B (p27, Kip1)
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
CNBP
|
CCHC-type zinc finger, nucleic acid binding protein
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL4A5
|
collagen, type IV, alpha 5
|
|
CYLD
|
cylindromatosis (turban tumor syndrome)
|
|
DMD
|
dystrophin
|
|
EGFR
|
epidermal growth factor receptor
|
|
ENG
|
endoglin
|
|
ERBB2
|
erb-b2 receptor tyrosine kinase 2
|
|
ERBB3
|
erb-b2 receptor tyrosine kinase 3
|
|
ERBB4
|
erb-b2 receptor tyrosine kinase 4
|
|
ESR1
|
estrogen receptor 1
|
|
ESR2
|
estrogen receptor 2 (ER beta)
|
|
ETS2
|
v-ets avian erythroblastosis virus E26 oncogene homolog 2
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
F9
|
coagulation factor IX
|
|
FAS
|
Fas cell surface death receptor
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FGG
|
fibrinogen gamma chain
|
|
FLCN
|
folliculin
|
|
GFAP
|
glial fibrillary acidic protein
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HLA-A
|
major histocompatibility complex, class I, A
|
|
HRG
|
histidine-rich glycoprotein
|
|
IGF1R
|
insulin-like growth factor 1 receptor
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KIAA0196
|
KIAA0196
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MAPT
|
microtubule-associated protein tau
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MKRN3
|
makorin ring finger protein 3
|
|
MT-ATP6
|
ATP synthase F0 subunit 6
|
|
MTM1
|
myotubularin 1
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYOC
|
myocilin, trabecular meshwork inducible glucocorticoid response
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NR2F1
|
nuclear receptor subfamily 2, group F, member 1
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
ORM2
|
orosomucoid 2
|
|
PANK2
|
pantothenate kinase 2
|
|
PDCD10
|
programmed cell death 10
|
|
PHOX2B
|
paired-like homeobox 2b
|
|
PMP22
|
peripheral myelin protein 22
|
|
PTK6
|
protein tyrosine kinase 6
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RANBP2
|
RAN binding protein 2
|
|
RGS16
|
regulator of G-protein signaling 16
|
|
RP1
|
retinitis pigmentosa 1 (autosomal dominant)
|
|
RP1L1
|
retinitis pigmentosa 1-like 1
|
|
RUNX1
|
runt-related transcription factor 1
|
|
S100A6
|
S100 calcium binding protein A6
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SGCE
|
sarcoglycan, epsilon
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SOST
|
sclerostin
|
|
SPINK1
|
serine peptidase inhibitor, Kazal type 1
|
|
SRY
|
sex determining region Y
|
|
TACR3
|
tachykinin receptor 3
|
|
TF
|
transferrin
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
THRB
|
thyroid hormone receptor, beta
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TYR
|
tyrosinase
|
|
UGT1A1
|
UDP glucuronosyltransferase 1 family, polypeptide A1
|
