| Symbol |
Name |
|
ANKH
|
ANKH inorganic pyrophosphate transport regulator
|
|
ANOS1
|
anosmin 1
|
|
APC
|
adenomatous polyposis coli
|
|
AQP9
|
aquaporin 9
|
|
AR
|
androgen receptor
|
|
ARG2
|
arginase 2
|
|
AVP
|
arginine vasopressin
|
|
BBS4
|
Bardet-Biedl syndrome 4
|
|
BRCA1
|
breast cancer 1, early onset
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CAV3
|
caveolin 3
|
|
CCP110
|
centriolar coiled coil protein 110kDa
|
|
CENPJ
|
centromere protein J
|
|
CEP164
|
centrosomal protein 164kDa
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
CLU
|
clusterin
|
|
CNBP
|
CCHC-type zinc finger, nucleic acid binding protein
|
|
CNTROB
|
centrobin, centrosomal BRCA2 interacting protein
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
CST3
|
cystatin C
|
|
CYP2D6
|
cytochrome P450, family 2, subfamily D, polypeptide 6
|
|
DCN
|
decorin
|
|
DCTN1
|
dynactin 1
|
|
DHFR
|
dihydrofolate reductase
|
|
DMD
|
dystrophin
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
EGFR
|
epidermal growth factor receptor
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
EMD
|
emerin
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
F2
|
coagulation factor II (thrombin)
|
|
F8
|
coagulation factor VIII, procoagulant component
|
|
FECH
|
ferrochelatase
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGG
|
fibrinogen gamma chain
|
|
FHL1
|
four and a half LIM domains 1
|
|
FLCN
|
folliculin
|
|
FLNA
|
filamin A, alpha
|
|
FLT1
|
fms-related tyrosine kinase 1
|
|
FUT2
|
fucosyltransferase 2 (secretor status included)
|
|
G6PD
|
glucose-6-phosphate dehydrogenase
|
|
GAD2
|
glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GNAS
|
GNAS complex locus
|
|
GNB3
|
guanine nucleotide binding protein (G protein), beta polypeptide 3
|
|
GP1BA
|
glycoprotein Ib (platelet), alpha polypeptide
|
|
GPC3
|
glypican 3
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HBB
|
hemoglobin, beta
|
|
HLA-A
|
major histocompatibility complex, class I, A
|
|
HLA-C
|
major histocompatibility complex, class I, C
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
HNF1A
|
HNF1 homeobox A
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HTR2A
|
5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
|
|
HTT
|
huntingtin
|
|
IDS
|
iduronate 2-sulfatase
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IGF1R
|
insulin-like growth factor 1 receptor
|
|
IGF2
|
insulin-like growth factor 2
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IL10
|
interleukin 10
|
|
IL10RA
|
interleukin 10 receptor, alpha
|
|
IL6
|
interleukin 6
|
|
INS
|
insulin
|
|
IRF6
|
interferon regulatory factor 6
|
|
KATNB1
|
katanin p80 (WD repeat containing) subunit B 1
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KIF24
|
kinesin family member 24
|
|
KIF3A
|
kinesin family member 3A
|
|
KIR2DS4
|
killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
MAPT
|
microtubule-associated protein tau
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MT-ATP6
|
ATP synthase F0 subunit 6
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MTM1
|
myotubularin 1
|
|
MTRR
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
|
|
MUC1
|
mucin 1, cell surface associated
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
NRXN1
|
neurexin 1
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
ORM2
|
orosomucoid 2
|
|
PAEP
|
progestagen-associated endometrial protein
|
|
PAPPA2
|
pappalysin 2
|
|
PARD6G
|
par-6 family cell polarity regulator gamma
|
|
PCDH19
|
protocadherin 19
|
|
PEG3
|
paternally expressed 3
|
|
PGR
|
progesterone receptor
|
|
PHEX
|
phosphate regulating endopeptidase homolog, X-linked
|
|
PHF6
|
PHD finger protein 6
|
|
PHOX2B
|
paired-like homeobox 2b
|
|
PLP1
|
proteolipid protein 1
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RAB11A
|
RAB11A, member RAS oncogene family
|
|
RANBP2
|
RAN binding protein 2
|
|
RBBP8
|
retinoblastoma binding protein 8
|
|
RDH5
|
retinol dehydrogenase 5 (11-cis/9-cis)
|
|
RET
|
ret proto-oncogene
|
|
RETN
|
resistin
|
|
RP1L1
|
retinitis pigmentosa 1-like 1
|
|
S100B
|
S100 calcium binding protein B
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SETX
|
senataxin
|
|
SFTPC
|
surfactant protein C
|
|
SHOX
|
short stature homeobox
|
|
SLC14A2
|
solute carrier family 14 (urea transporter), member 2
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC6A4
|
solute carrier family 6 (neurotransmitter transporter), member 4
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SRD5A2
|
steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
|
|
TADA1
|
transcriptional adaptor 1
|
|
TAZ
|
tafazzin
|
|
TF
|
transferrin
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
THRB
|
thyroid hormone receptor, beta
|
|
TP63
|
tumor protein p63
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TTK
|
TTK protein kinase
|
|
UGT1A
|
UDP glucuronosyltransferase 1 family, polypeptide A complex locus
|
|
UNC13D
|
unc-13 homolog D (C. elegans)
|
|
VDAC3
|
voltage-dependent anion channel 3
|
|
VEGFA
|
vascular endothelial growth factor A
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
ZIC3
|
Zic family member 3
|
