| Symbol |
Name |
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
AGTR1
|
angiotensin II receptor, type 1
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
AKT2
|
v-akt murine thymoma viral oncogene homolog 2
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
APOA1
|
apolipoprotein A-I
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARMC5
|
armadillo repeat containing 5
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
AVPR2
|
arginine vasopressin receptor 2
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BBIP1
|
BBSome interacting protein 1
|
|
BBS1
|
Bardet-Biedl syndrome 1
|
|
BBS10
|
Bardet-Biedl syndrome 10
|
|
BBS12
|
Bardet-Biedl syndrome 12
|
|
BBS2
|
Bardet-Biedl syndrome 2
|
|
BBS4
|
Bardet-Biedl syndrome 4
|
|
BBS5
|
Bardet-Biedl syndrome 5
|
|
BBS7
|
Bardet-Biedl syndrome 7
|
|
BBS9
|
Bardet-Biedl syndrome 9
|
|
BMPR2
|
bone morphogenetic protein receptor, type II (serine/threonine kinase)
|
|
CACNA1D
|
calcium channel, voltage-dependent, L type, alpha 1D subunit
|
|
CALR
|
calreticulin
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CBS
|
cystathionine-beta-synthase
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCR6
|
chemokine (C-C motif) receptor 6
|
|
CD2AP
|
CD2-associated protein
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CEP164
|
centrosomal protein 164kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CIRH1A
|
cirrhosis, autosomal recessive 1A (cirhin)
|
|
CLDN1
|
claudin 1
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL4A3
|
collagen, type IV, alpha 3 (Goodpasture antigen)
|
|
COL4A4
|
collagen, type IV, alpha 4
|
|
COL4A5
|
collagen, type IV, alpha 5
|
|
COL5A1
|
collagen, type V, alpha 1
|
|
COL5A2
|
collagen, type V, alpha 2
|
|
COMT
|
catechol-O-methyltransferase
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CPOX
|
coproporphyrinogen oxidase
|
|
CTGF
|
connective tissue growth factor
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CUL3
|
cullin 3
|
|
CYP11B1
|
cytochrome P450, family 11, subfamily B, polypeptide 1
|
|
CYP17A1
|
cytochrome P450, family 17, subfamily A, polypeptide 1
|
|
CYP21A2
|
cytochrome P450, family 21, subfamily A, polypeptide 2
|
|
DGUOK
|
deoxyguanosine kinase
|
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
DYRK1B
|
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B
|
|
EDA
|
ectodysplasin A
|
|
EDA2R
|
ectodysplasin A2 receptor
|
|
ELN
|
elastin
|
|
ENG
|
endoglin
|
|
ENPP1
|
ectonucleotide pyrophosphatase/phosphodiesterase 1
|
|
EOGT
|
EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
FBN1
|
fibrillin 1
|
|
FGA
|
fibrinogen alpha chain
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FMO3
|
flavin containing monooxygenase 3
|
|
FMR1
|
fragile X mental retardation 1
|
|
FN1
|
fibronectin 1
|
|
FOXF1
|
forkhead box F1
|
|
FUZ
|
fuzzy planar cell polarity protein
|
|
G6PC
|
glucose-6-phosphatase, catalytic subunit
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GDF2
|
growth differentiation factor 2
|
|
GLA
|
galactosidase, alpha
|
|
GNAS
|
GNAS complex locus
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
GUCY1A3
|
guanylate cyclase 1, soluble, alpha 3
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
HGD
|
homogentisate 1,2-dioxygenase
|
|
HIRA
|
histone cell cycle regulator
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DPB1
|
major histocompatibility complex, class II, DP beta 1
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
HPSE2
|
heparanase 2 (inactive)
|
|
HSD11B2
|
hydroxysteroid (11-beta) dehydrogenase 2
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFT27
|
intraflagellar transport 27
|
|
IKBKAP
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
|
IL12B
|
interleukin 12B
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
INVS
|
inversin
|
|
IQCB1
|
IQ motif containing B1
|
|
IRF5
|
interferon regulatory factor 5
|
|
ITGA8
|
integrin, alpha 8
|
|
JAK2
|
Janus kinase 2
|
|
KCNJ5
|
potassium channel, inwardly rectifying subfamily J, member 5
|
|
KCTD1
|
potassium channel tetramerization domain containing 1
|
|
KIF1B
|
kinesin family member 1B
|
|
KLHL3
|
kelch-like family member 3
|
|
LAMB2
|
laminin, beta 2 (laminin S)
|
|
LEMD3
|
LEM domain containing 3
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMNA
|
lamin A/C
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
LRIG2
|
leucine-rich repeats and immunoglobulin-like domains 2
|
|
LYZ
|
lysozyme
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAFB
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MLX
|
MLX, MAX dimerization protein
|
|
MPL
|
MPL proto-oncogene, thrombopoietin receptor
|
|
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
|
|
MUC1
|
mucin 1, cell surface associated
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
ND1
|
|
|
NF1
|
neurofibromin 1
|
|
NME1
|
NME/NM23 nucleoside diphosphate kinase 1
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOTCH1
|
notch 1
|
|
NOTCH3
|
notch 3
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NPHP4
|
nephronophthisis 4
|
|
NR3C1
|
nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
|
|
NR3C2
|
nuclear receptor subfamily 3, group C, member 2
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PAX2
|
paired box 2
|
|
PDE11A
|
phosphodiesterase 11A
|
|
PDE8B
|
phosphodiesterase 8B
|
|
PIGM
|
phosphatidylinositol glycan anchor biosynthesis, class M
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PLIN1
|
perilipin 1
|
|
PNMT
|
phenylethanolamine N-methyltransferase
|
|
POU6F2
|
POU class 6 homeobox 2
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PPP1R3A
|
protein phosphatase 1, regulatory subunit 3A
|
|
PRKACA
|
protein kinase, cAMP-dependent, catalytic, alpha
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRTN3
|
proteinase 3
|
|
PTGIS
|
prostaglandin I2 (prostacyclin) synthase
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
RET
|
ret proto-oncogene
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SCNN1B
|
sodium channel, non voltage gated 1 beta subunit
|
|
SCNN1G
|
sodium channel, non voltage gated 1 gamma subunit
|
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SERPINA6
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6
|
|
SH2B3
|
SH2B adaptor protein 3
|
|
SLC2A10
|
solute carrier family 2 (facilitated glucose transporter), member 10
|
|
SLC37A4
|
solute carrier family 37 (glucose-6-phosphate transporter), member 4
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SSTR5
|
somatostatin receptor 5
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TET2
|
tet methylcytosine dioxygenase 2
|
|
THPO
|
thrombopoietin
|
|
TJP2
|
tight junction protein 2
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM67
|
transmembrane protein 67
|
|
TNFRSF11B
|
tumor necrosis factor receptor superfamily, member 11b
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRNE
|
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
VANGL1
|
VANGL planar cell polarity protein 1
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WNK1
|
WNK lysine deficient protein kinase 1
|
|
WNK4
|
WNK lysine deficient protein kinase 4
|
|
WRN
|
Werner syndrome, RecQ helicase-like
|
|
WT1
|
Wilms tumor 1
|
|
XPNPEP3
|
X-prolyl aminopeptidase 3, mitochondrial
|
