| Symbol |
Name |
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ABCG2
|
ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
|
|
ACE2
|
angiotensin I converting enzyme 2
|
|
ADCY3
|
adenylate cyclase 3
|
|
ANTXR1
|
anthrax toxin receptor 1
|
|
AQP1
|
aquaporin 1 (Colton blood group)
|
|
AQP8
|
aquaporin 8
|
|
ARF6
|
ADP-ribosylation factor 6
|
|
ARL13A
|
ADP-ribosylation factor-like 13A
|
|
ARL13B
|
ADP-ribosylation factor-like 13B
|
|
ATP1B2
|
ATPase, Na+/K+ transporting, beta 2 polypeptide
|
|
ATP6V0A4
|
ATPase, H+ transporting, lysosomal V0 subunit a4
|
|
B4GALT1
|
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
|
|
BBIP1
|
BBSome interacting protein 1
|
|
BBS1
|
Bardet-Biedl syndrome 1
|
|
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
|
|
C16ORF52
|
chromosome 16 open reading frame 52
|
|
CA4
|
carbonic anhydrase IV
|
|
CASK
|
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
|
|
CD36
|
CD36 molecule (thrombospondin receptor)
|
|
CDHR2
|
cadherin-related family member 2
|
|
CDHR5
|
cadherin-related family member 5
|
|
CNGA2
|
cyclic nucleotide gated channel alpha 2
|
|
CNGA4
|
cyclic nucleotide gated channel alpha 4
|
|
CNGB1
|
cyclic nucleotide gated channel beta 1
|
|
CUBN
|
cubilin (intrinsic factor-cobalamin receptor)
|
|
CYBRD1
|
cytochrome b reductase 1
|
|
DMD
|
dystrophin
|
|
DMTN
|
dematin actin binding protein
|
|
DRD1
|
dopamine receptor D1
|
|
DRD2
|
dopamine receptor D2
|
|
DRD5
|
dopamine receptor D5
|
|
EFCAB7
|
EF-hand calcium binding domain 7
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
FSCN1
|
fascin actin-bundling protein 1
|
|
FSCN3
|
fascin actin-bundling protein 3, testicular
|
|
GAP43
|
growth associated protein 43
|
|
GNA12
|
guanine nucleotide binding protein (G protein) alpha 12
|
|
GNA13
|
guanine nucleotide binding protein (G protein), alpha 13
|
|
GPR157
|
G protein-coupled receptor 157
|
|
GPR161
|
G protein-coupled receptor 161
|
|
HHIP
|
hedgehog interacting protein
|
|
ITGA3
|
integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
|
|
ITGAV
|
integrin, alpha V
|
|
ITGB3
|
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
|
|
ITLN1
|
intelectin 1 (galactofuranose binding)
|
|
LIMA1
|
LIM domain and actin binding 1
|
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
|
MFSD10
|
major facilitator superfamily domain containing 10
|
|
PALM
|
paralemmin
|
|
PDPN
|
podoplanin
|
|
PDZK1
|
PDZ domain containing 1
|
|
PEX19
|
peroxisomal biogenesis factor 19
|
|
PKD1
|
polycystic kidney disease 1 (autosomal dominant)
|
|
PLB1
|
phospholipase B1
|
|
PLEKHO1
|
pleckstrin homology domain containing, family O member 1
|
|
PODXL
|
podocalyxin-like
|
|
PTCH1
|
patched 1
|
|
RAB35
|
RAB35, member RAS oncogene family
|
|
RHO
|
rhodopsin
|
|
SCNN1A
|
sodium channel, non voltage gated 1 alpha subunit
|
|
SEPTIN2
|
septin 2
|
|
SHANK2
|
SH3 and multiple ankyrin repeat domains 2
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SLC11A2
|
solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
|
|
SLC12A2
|
solute carrier family 12 (sodium/potassium/chloride transporter), member 2
|
|
SLC17A3
|
solute carrier family 17 (organic anion transporter), member 3
|
|
SLC17A4
|
solute carrier family 17, member 4
|
|
SLC20A2
|
solute carrier family 20 (phosphate transporter), member 2
|
|
SLC22A12
|
solute carrier family 22 (organic anion/urate transporter), member 12
|
|
SLC22A5
|
solute carrier family 22 (organic cation/carnitine transporter), member 5
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC26A6
|
solute carrier family 26 (anion exchanger), member 6
|
|
SLC28A1
|
solute carrier family 28 (concentrative nucleoside transporter), member 1
|
|
SLC28A2
|
solute carrier family 28 (concentrative nucleoside transporter), member 2
|
|
SLC28A3
|
solute carrier family 28 (concentrative nucleoside transporter), member 3
|
|
SLC34A1
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
|
|
SLC34A2
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 2
|
|
SLC34A3
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
|
|
SLC38A4
|
solute carrier family 38, member 4
|
|
SLC3A1
|
solute carrier family 3 (amino acid transporter heavy chain), member 1
|
|
SLC5A1
|
solute carrier family 5 (sodium/glucose cotransporter), member 1
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SLC6A6
|
solute carrier family 6 (neurotransmitter transporter), member 6
|
|
SLC7A5
|
solute carrier family 7 (amino acid transporter light chain, L system), member 5
|
|
SLC7A8
|
solute carrier family 7 (amino acid transporter light chain, L system), member 8
|
|
SLC7A9
|
solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
|
|
SLC9A3
|
solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3
|
|
SLC9A3R1
|
solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
|
|
SMO
|
smoothened, frizzled class receptor
|
|
SSTR3
|
somatostatin receptor 3
|
|
SYNE2
|
spectrin repeat containing, nuclear envelope 2
|
|
SYTL1
|
synaptotagmin-like 1
|
|
TBC1D10C
|
TBC1 domain family, member 10C
|
|
TCTN2
|
tectonic family member 2
|
|
TCTN3
|
tectonic family member 3
|
|
TMEM17
|
transmembrane protein 17
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM67
|
transmembrane protein 67
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
UTRN
|
utrophin
|
