| Symbol |
Name |
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ACAD9
|
acyl-CoA dehydrogenase family, member 9
|
|
ACTC1
|
actin, alpha, cardiac muscle 1
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
ADCY5
|
adenylate cyclase 5
|
|
AGGF1
|
angiogenic factor with G patch and FHA domains 1
|
|
AKT2
|
v-akt murine thymoma viral oncogene homolog 2
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
APOA1
|
apolipoprotein A-I
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
CASR
|
calcium-sensing receptor
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CAV3
|
caveolin 3
|
|
CCR6
|
chemokine (C-C motif) receptor 6
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CLIC2
|
chloride intracellular channel 2
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CP
|
ceruloplasmin (ferroxidase)
|
|
CSRP3
|
cysteine and glycine-rich protein 3 (cardiac LIM protein)
|
|
CTGF
|
connective tissue growth factor
|
|
DES
|
desmin
|
|
DMD
|
dystrophin
|
|
DNAJC19
|
DnaJ (Hsp40) homolog, subfamily C, member 19
|
|
DSP
|
desmoplakin
|
|
DTNA
|
dystrobrevin, alpha
|
|
EFEMP2
|
EGF containing fibulin-like extracellular matrix protein 2
|
|
ELAC2
|
elaC ribonuclease Z 2
|
|
ELN
|
elastin
|
|
ENG
|
endoglin
|
|
ENPP1
|
ectonucleotide pyrophosphatase/phosphodiesterase 1
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
EYA4
|
EYA transcriptional coactivator and phosphatase 4
|
|
FBLN5
|
fibulin 5
|
|
FBN1
|
fibrillin 1
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGF23
|
fibroblast growth factor 23
|
|
FLNA
|
filamin A, alpha
|
|
FXN
|
frataxin
|
|
GATAD1
|
GATA zinc finger domain containing 1
|
|
GBA
|
glucosidase, beta, acid
|
|
GDF2
|
growth differentiation factor 2
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GLA
|
galactosidase, alpha
|
|
GLB1
|
galactosidase, beta 1
|
|
GNA11
|
guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HADHA
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
|
|
HADHB
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HFE
|
hemochromatosis
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
IDS
|
iduronate 2-sulfatase
|
|
IGHV4-34
|
immunoglobulin heavy variable 4-34
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IRF5
|
interferon regulatory factor 5
|
|
JUP
|
junction plakoglobin
|
|
KCNJ5
|
potassium channel, inwardly rectifying subfamily J, member 5
|
|
KIF1B
|
kinesin family member 1B
|
|
LDB3
|
LIM domain binding 3
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMNA
|
lamin A/C
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MT-TF
|
tRNA
|
|
MT-TH
|
tRNA
|
|
MT-TK
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
MYD88
|
myeloid differentiation primary response 88
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYLK2
|
myosin light chain kinase 2
|
|
ND1
|
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PLN
|
phospholamban
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
PRKAG2
|
protein kinase, AMP-activated, gamma 2 non-catalytic subunit
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PSEN1
|
presenilin 1
|
|
PSEN2
|
presenilin 2
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
PTEN
|
phosphatase and tensin homolog
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RASA1
|
RAS p21 protein activator (GTPase activating protein) 1
|
|
RET
|
ret proto-oncogene
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RPS19
|
ribosomal protein S19
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SGCD
|
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC22A5
|
solute carrier family 22 (organic cation/carnitine transporter), member 5
|
|
SLC2A10
|
solute carrier family 2 (facilitated glucose transporter), member 10
|
|
SMAD4
|
SMAD family member 4
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
TAZ
|
tafazzin
|
|
TBL2
|
transducin (beta)-like 2
|
|
TF
|
transferrin
|
|
TMEM70
|
transmembrane protein 70
|
|
TMPO
|
thymopoietin
|
|
TNNI3
|
troponin I type 3 (cardiac)
|
|
TNNT2
|
troponin T type 2 (cardiac)
|
|
TPI1
|
triosephosphate isomerase 1
|
|
TPM1
|
tropomyosin 1 (alpha)
|
|
TRIM37
|
tripartite motif containing 37
|
|
TRNE
|
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WRN
|
Werner syndrome, RecQ helicase-like
|
