TCMBANKGE002686 |
CEP120 |
CCDC100; JBTS31; SRTD13 |
centrosomal protein 120 |
TCMBANKGE012778 |
DCLRE1C |
A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C |
DNA cross-link repair 1C |
TCMBANKGE003179 |
CUL7 |
3M1; CUL-7; KIAA0076; dJ20C7.5 |
cullin 7 |
TCMBANKGE013382 |
ADA |
- |
adenosine deaminase |
TCMBANKGE011145 |
NSD1 |
ARA267; KMT3B; SOTOS; SOTOS1; STO |
nuclear receptor binding SET domain protein 1 |
TCMBANKGE000944 |
NOTCH3 |
CADASIL; CADASIL1; CASIL; IMF2; LMNS |
notch receptor 3 |
TCMBANKGE007997 |
OCRL |
Dent-2; INPP5F; LOCR; NPHL2; OCRL-1; OCRL1 |
OCRL inositol polyphosphate-5-phosphatase |
TCMBANKGE008065 |
COL11A1 |
CO11A1; COLL6; DFNA37; STL2 |
collagen type XI alpha 1 chain |
TCMBANKGE010711 |
ABCC9 |
ABC37; ATFB12; CANTU; CMD1O; SUR2 |
ATP binding cassette subfamily C member 9 |
TCMBANKGE000162 |
MMP13 |
CLG3; MANDP1; MDST; MMP-13 |
matrix metallopeptidase 13 |
TCMBANKGE002531 |
DYNC2H1 |
ATD3; DHC1b; DHC2; DNCH2; DYH1B; SRPS2B; SRTD3; hdhc11 |
dynein cytoplasmic 2 heavy chain 1 |
TCMBANKGE004881 |
SLC26A2 |
D5S1708; DTD; DTDST; EDM4; MST153; MSTP157 |
solute carrier family 26 member 2 |
TCMBANKGE010670 |
KCNJ8 |
KIR6.1; uKATP-1 |
potassium inwardly rectifying channel subfamily J member 8 |
TCMBANKGE000009 |
GJA1 |
AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL; HLHS1; HSS; ODDD; PPKCA |
gap junction protein alpha 1 |
TCMBANKGE011192 |
CANT1 |
DBQD; DBQD1; EDM7; SCAN-1; SCAN1; SHAPY |
calcium activated nucleotidase 1 |
TCMBANKGE013872 |
HSPG2 |
HSPG; PLC; PRCAN; SJA; SJS; SJS1 |
heparan sulfate proteoglycan 2 |
TCMBANKGE010979 |
TBXAS1 |
BDPLT14; CYP5; CYP5A1; GHOSAL; THAS; TS; TXAS; TXS |
thromboxane A synthase 1 |
TCMBANKGE008625 |
TONSL |
IKBR; NFKBIL2; SEMDSP |
tonsoku like, DNA repair protein |
TCMBANKGE005388 |
AMMECR1 |
AMMERC1; MFHIEN |
AMMECR nuclear protein 1 |
TCMBANKGE011060 |
PTH1R |
EKNS; PFE; PTHR; PTHR1 |
parathyroid hormone 1 receptor |
TCMBANKGE000987 |
COL11A2 |
DFNA13; DFNB53; FBCG2; HKE5; OSMEDA; OSMEDB; PARP; STL3 |
collagen type XI alpha 2 chain |
TCMBANKGE004809 |
SHOX |
GCFX; PHOG; SHOXY; SS |
short stature homeobox |
TCMBANKGE010034 |
ANKH |
ANK; CCAL2; CMDJ; CPPDD; HANK; MANK; SLC62A1 |
ANKH inorganic pyrophosphate transport regulator |
TCMBANKGE000477 |
EZH2 |
ENX-1; ENX1; EZH2b; KMT6; KMT6A; WVS; WVS2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
TCMBANKGE000108 |
COMP |
EDM1; EPD1; MED; PSACH; THBS5; TSP5 |
cartilage oligomeric matrix protein |
TCMBANKGE014647 |
IL7R |
CD127; CDW127; IL-7R-alpha; IL7RA; ILRA |
interleukin 7 receptor |
TCMBANKGE012418 |
GPC6 |
OMIMD1 |
glypican 6 |
TCMBANKGE003579 |
IFT80 |
ATD2; FAP167; SRTD2; WDR56 |
intraflagellar transport 80 |
TCMBANKGE000160 |
COL2A1 |
ANFH; AOM; COL11A3; SEDC; STL1 |
collagen type II alpha 1 chain |
TCMBANKGE000976 |
TNFSF11 |
CD254; ODF; OPGL; OPTB2; RANKL; TNLG6B; TRANCE; hRANKL2; sOdf |
TNF superfamily member 11 |
TCMBANKGE013868 |
DYM |
DMC; SMC |
dymeclin |
TCMBANKGE002423 |
XYLT1 |
DBQD2; PXYLT1; XT-I; XT1; XTI; XYLTI; xylT-I |
xylosyltransferase 1 |
TCMBANKGE004724 |
FBN1 |
ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFLS; MFS1; OCTD; SGS; SSKS; WMS; WMS2 |
fibrillin 1 |
TCMBANKGE001524 |
SKI |
SGS; SKV |
SKI proto-oncogene |
TCMBANKGE010869 |
SLC39A13 |
EDSSPD3; LZT-Hs9; SCDEDS; ZIP13 |
solute carrier family 39 member 13 |
TCMBANKGE013923 |
ACSL4 |
ACS4; FACL4; LACS4; MRX63; MRX68 |
acyl-CoA synthetase long chain family member 4 |
TCMBANKGE001277 |
IFT172 |
BBS20; NPHP17; RP71; SLB; SRTD10; osm-1; wim |
intraflagellar transport 172 |
TCMBANKGE001088 |
SMAD4 |
DPC4; JIP; MADH4; MYHRS |
SMAD family member 4 |
TCMBANKGE000482 |
IDH1 |
HEL-216; HEL-S-26; IDCD; IDH; IDP; IDPC; PICD |
isocitrate dehydrogenase (NADP(+)) 1 |
TCMBANKGE003756 |
OBSL1 |
- |
obscurin like cytoskeletal adaptor 1 |
TCMBANKGE012446 |
IL2RG |
CD132; CIDX; IL-2RG; IMD4; P64; SCIDX; SCIDX1 |
interleukin 2 receptor subunit gamma |
TCMBANKGE003195 |
PDGFRB |
CD140B; IBGC4; IMF1; JTK12; KOGS; PDGFR; PDGFR-1; PDGFR1; PENTT |
platelet derived growth factor receptor beta |
TCMBANKGE008936 |
IFT122 |
CED; CED1; FAP80; SPG; WDR10; WDR10p; WDR140 |
intraflagellar transport 122 |
TCMBANKGE006691 |
FGFR3 |
ACH; CD333; CEK2; HSFGFR3EX; JTK4 |
fibroblast growth factor receptor 3 |
TCMBANKGE006172 |
EXT2 |
SOTV; SSMS |
exostosin glycosyltransferase 2 |
TCMBANKGE002485 |
PHEX |
HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH |
phosphate regulating endopeptidase homolog X-linked |
TCMBANKGE000465 |
CASR |
CAR; EIG8; FHH; FIH; GPRC2A; HHC; HHC1; HYPOC1; NSHPT; PCAR1; hCasR |
calcium sensing receptor |
TCMBANKGE014352 |
LMBR1 |
ACHP; C7orf2; DIF14; LSS; PPD2; THYP; TPT; ZRS |
limb development membrane protein 1 |
TCMBANKGE010297 |
COL10A1 |
- |
collagen type X alpha 1 chain |
TCMBANKGE000964 |
MAP3K7 |
CSCF; FMD2; MEKK7; TAK1; TGF1a |
mitogen-activated protein kinase kinase kinase 7 |
TCMBANKGE002584 |
CHD7 |
CRG; HH5; IS3; KAL5 |
chromodomain helicase DNA binding protein 7 |
TCMBANKGE011310 |
SEC24D |
CLCRP2 |
SEC24 homolog D, COPII coat complex component |
TCMBANKGE000328 |
PTPN11 |
BPTP3; CFC; JMML; METCDS; NS1; PTP-1D; PTP2C; SH-PTP2; SH-PTP3; SHP2 |
protein tyrosine phosphatase non-receptor type 11 |
TCMBANKGE005941 |
FLNA |
ABP-280; ABPX; CSBS; CVD1; FGS2; FLN; FLN-A; FLN1; FMD; MNS; NHBP; OPD; OPD1; OPD2; XLVD; XMVD |
filamin A |
TCMBANKGE006006 |
RAG2 |
RAG-2 |
recombination activating 2 |
TCMBANKGE011424 |
IFT43 |
C14orf179; CED3; RP81; SRTD18 |
intraflagellar transport 43 |
TCMBANKGE000340 |
ACP5 |
HPAP; TRACP5a; TRACP5b; TRAP; TrATPase |
acid phosphatase 5, tartrate resistant |
TCMBANKGE002877 |
SUZ12 |
CHET9; IMMAS; JJAZ1 |
SUZ12 polycomb repressive complex 2 subunit |
TCMBANKGE003188 |
P4HB |
CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1; PHDB; PO4DB; PO4HB; PROHB |
prolyl 4-hydroxylase subunit beta |
TCMBANKGE003655 |
PTDSS1 |
LMHD; PSS1; PSSA |
phosphatidylserine synthase 1 |
TCMBANKGE009203 |
SNX10 |
OPTB8 |
sorting nexin 10 |
TCMBANKGE007024 |
SLC29A3 |
ENT3; HCLAP; HJCD; PHID |
solute carrier family 29 member 3 |
TCMBANKGE009089 |
EXT1 |
EXT; LGCR; LGS; TRPS2; TTV |
exostosin glycosyltransferase 1 |
TCMBANKGE009558 |
EED |
COGIS; HEED; WAIT1 |
embryonic ectoderm development |
TCMBANKGE008746 |
ATP7A |
DSMAX; MK; MNK; SMAX3 |
ATPase copper transporting alpha |
TCMBANKGE012769 |
TRIP11 |
ACG1A; CEV14; GMAP-210; GMAP210; ODCD; TRIP-11; TRIP230 |
thyroid hormone receptor interactor 11 |
TCMBANKGE008873 |
SBDS |
CGI-97; SDS; SWDS |
SBDS ribosome maturation factor |
TCMBANKGE007167 |
LIG4 |
LIG4S |
DNA ligase 4 |
TCMBANKGE010687 |
DYNC2I2 |
CFAP133; DIC5; FAP133; SRTD11; WDR34; bA216B9.3 |
dynein 2 intermediate chain 2 |
TCMBANKGE012224 |
VDR |
NR1I1; PPP1R163 |
vitamin D receptor |
TCMBANKGE001183 |
TRPV4 |
BCYM3; CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA; SSQTL1; TRP12; VRL2; VROAC |
transient receptor potential cation channel subfamily V member 4 |
TCMBANKGE008735 |
WDR19 |
ATD5; CED4; DYF-2; FAP66; IFT144; NPHP13; ORF26; Oseg6; PWDMP; SRTD5 |
WD repeat domain 19 |
TCMBANKGE012909 |
CLCN7 |
CLC-7; CLC7; HOD; OPTA2; OPTB4; PPP1R63 |
chloride voltage-gated channel 7 |
TCMBANKGE002020 |
INPPL1 |
OPSMD; SHIP2 |
inositol polyphosphate phosphatase like 1 |
TCMBANKGE008313 |
SRP54 |
SCN8 |
signal recognition particle 54 |
TCMBANKGE014757 |
IDH2 |
D2HGA2; ICD-M; IDH; IDHM; IDP; IDPM; mNADP-IDH |
isocitrate dehydrogenase (NADP(+)) 2 |
TCMBANKGE000289 |
EIF2AK3 |
PEK; PERK; WRS |
eukaryotic translation initiation factor 2 alpha kinase 3 |
TCMBANKGE014144 |
LEMD3 |
MAN1 |
LEM domain containing 3 |