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疾病ID:TCMBANKDI024934
疾病名:Congenital anomaly of face
MeSH_Name:Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
HPO_Name:Abnormality of head or neck
UMLS_Name:Congenital Abnormality
DO_Name:-
疾病类型:group
DisGeNET_Link:C0266617
MeSH_Link:C16; C13; C05
HPO_Link:HP:0000152
UMLS_Link:T019
DO_Link:-
HERB_ID:HBDIS006035
疾病对应的植物
| ID | 拉丁名 | 药名 | 药用植物名 | 功能与主治 | 来源 | 药用部位 | 使用民族 |
|---|
疾病对应的化合物
| 化合物ID | 化合物名 | 别名 | 分子式 | 分子质量 | Smiles |
|---|
疾病对应的靶点
| 靶点ID | 基因名 | 基因别名 | 描述 |
|---|
| TCMBANKGE001554 | KCNK4 | FHEIG; K2p4.1; TRAAK; TRAAK1 | potassium two pore domain channel subfamily K member 4 |
| TCMBANKGE001629 | SMC3 | BAM; BMH; CDLS3; CSPG6; HCAP; SMC3L1 | structural maintenance of chromosomes 3 |
| TCMBANKGE001033 | FGFR1 | BFGFR; CD331; CEK; ECCL; FGFBR; FGFR-1; FLG; FLT-2; FLT2; HBGFR; HH2; HRTFDS; KAL2; N-SAM; OGD; bFGF-R-1 | fibroblast growth factor receptor 1 |
| TCMBANKGE006560 | VPS13B | CHS1; COH1 | vacuolar protein sorting 13 homolog B |
| TCMBANKGE003804 | FGFR2 | BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; TK14; TK25 | fibroblast growth factor receptor 2 |
| TCMBANKGE003957 | TRPS1 | GC79; LGCR | transcriptional repressor GATA binding 1 |
| TCMBANKGE007997 | OCRL | Dent-2; INPP5F; LOCR; NPHL2; OCRL-1; OCRL1 | OCRL inositol polyphosphate-5-phosphatase |
| TCMBANKGE000711 | SOX4 | CSS10; EVI16 | SRY-box transcription factor 4 |
| TCMBANKGE014280 | JAG1 | AGS; AGS1; AHD; AWS; CD339; DCHE; HJ1; JAGL1 | jagged canonical Notch ligand 1 |
| TCMBANKGE000660 | DNMT3B | ICF; ICF1; M.HsaIIIB | DNA methyltransferase 3 beta |
| TCMBANKGE010067 | NALCN | CLIFAHDD; CanIon; IHPRF; IHPRF1; INNFD; VGCNL1; bA430M15.1 | sodium leak channel, non-selective |
| TCMBANKGE006388 | EBF3 | COE3; EBF-3; HADDS; O/E-2; OE-2 | EBF transcription factor 3 |
| TCMBANKGE003205 | WWOX | D16S432E; EIEE28; FOR; FRA16D; HHCMA56; PRO0128; SCAR12; SDR41C1; WOX1 | WW domain containing oxidoreductase |
| TCMBANKGE007775 | BCL9 | LGS | BCL9 transcription coactivator |
| TCMBANKGE002833 | MED12 | ARC240; CAGH45; FGS1; HOPA; Kto; MED12S; OHDOX; OKS; OPA1; TNRC11; TRAP230 | mediator complex subunit 12 |
| TCMBANKGE003324 | KIRREL3 | KIRRE; MRD4; NEPH2; PRO4502 | kirre like nephrin family adhesion molecule 3 |
| TCMBANKGE010127 | WNT10A | OODD; SSPS; STHAG4 | Wnt family member 10A |
| TCMBANKGE007399 | SATB2 | GLSS | SATB homeobox 2 |
| TCMBANKGE004021 | FMR1 | FMRP; FRAXA; POF; POF1 | FMRP translational regulator 1 |
| TCMBANKGE006701 | G6PC3 | SCN4; UGRP | glucose-6-phosphatase catalytic subunit 3 |
| TCMBANKGE000872 | IGF1R | CD221; IGFIR; IGFR; JTK13 | insulin like growth factor 1 receptor |
| TCMBANKGE000166 | EP300 | KAT3B; MKHK2; RSTS2; p300 | E1A binding protein p300 |
| TCMBANKGE010310 | SYVN1 | DER3; HRD1 | synoviolin 1 |
| TCMBANKGE005993 | POGZ | MRD37; WHSUS; ZNF280E; ZNF635; ZNF635m | pogo transposable element derived with ZNF domain |
| TCMBANKGE011049 | TAB2 | CHTD2; MAP3K7IP2; TAB-2 | TGF-beta activated kinase 1 (MAP3K7) binding protein 2 |
| TCMBANKGE011152 | HERC1 | MDFPMR; p532; p619 | HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 |
| TCMBANKGE006865 | GLIS2 | NKL; NPHP7 | GLIS family zinc finger 2 |
| TCMBANKGE011086 | ACSL3 | ACS3; FACL3; LACS 3; LACS3; PRO2194 | acyl-CoA synthetase long chain family member 3 |
| TCMBANKGE013523 | ENG | END; HHT1; ORW1 | endoglin |
| TCMBANKGE002403 | SETD5 | - | SET domain containing 5 |
| TCMBANKGE000275 | STXBP1 | MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1; UNC18; unc-18A; unc18-1 | syntaxin binding protein 1 |
| TCMBANKGE005746 | XRCC4 | SSMED | X-ray repair cross complementing 4 |
| TCMBANKGE005308 | RAD21 | CDLS4; HR21; HRAD21; MCD1; MGS; NXP1; SCC1; hHR21 | RAD21 cohesin complex component |
| TCMBANKGE000231 | MAP2K1 | CFC3; MAPKK1; MEK1; MKK1; PRKMK1 | mitogen-activated protein kinase kinase 1 |
| TCMBANKGE000017 | MAPT | DDPAC; FTDP-17; MAPTL; MSTD; MTBT1; MTBT2; PPND; PPP1R103; TAU | microtubule associated protein tau |
| TCMBANKGE011312 | FIBP | FGFIBP; FIBP-1; TROFAS | FGF1 intracellular binding protein |
| TCMBANKGE003553 | SNAP25 | CMS18; RIC-4; RIC4; SEC9; SNAP; SNAP-25; SUP; bA416N4.2; dJ1068F16.2 | synaptosome associated protein 25 |
| TCMBANKGE010497 | CITED2 | ASD8; MRG-1; MRG1; P35SRJ; VSD2 | Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 |
| TCMBANKGE002242 | HEY2 | CHF1; GRIDLOCK; GRL; HERP1; HESR2; HRT2; bHLHb32 | hes related family bHLH transcription factor with YRPW motif 2 |
| TCMBANKGE003746 | CREBBP | CBP; KAT3A; MKHK1; RSTS; RSTS1 | CREB binding protein |
| TCMBANKGE002410 | PITX2 | ARP1; ASGD4; Brx1; IDG2; IGDS; IGDS2; IHG2; IRID2; Otlx2; PTX2; RGS; RIEG; RIEG1; RS | paired like homeodomain 2 |
| TCMBANKGE009907 | SMARCAL1 | HARP; HHARP | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 |
| TCMBANKGE002423 | XYLT1 | DBQD2; PXYLT1; XT-I; XT1; XTI; XYLTI; xylT-I | xylosyltransferase 1 |
| TCMBANKGE008593 | TACC3 | ERIC-1; ERIC1; Tacc4; maskin | transforming acidic coiled-coil containing protein 3 |
| TCMBANKGE010631 | TUBB3 | CDCBM; CDCBM1; CFEOM3; CFEOM3A; FEOM3; TUBB4; beta-4 | tubulin beta 3 class III |
| TCMBANKGE000523 | BMP4 | BMP2B; BMP2B1; MCOPS6; OFC11; ZYME | bone morphogenetic protein 4 |
| TCMBANKGE001106 | MTOR | FRAP; FRAP1; FRAP2; RAFT1; RAPT1; SKS | mechanistic target of rapamycin kinase |
| TCMBANKGE007113 | HDAC4 | AHO3; BDMR; HA6116; HD4; HDAC-4; HDAC-A; HDACA | histone deacetylase 4 |
| TCMBANKGE005617 | SNAP29 | CEDNIK; SNAP-29 | synaptosome associated protein 29 |
| TCMBANKGE000301 | SLC2A1 | CSE; DYT17; DYT18; DYT9; EIG12; GLUT; GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN | solute carrier family 2 member 1 |
| TCMBANKGE011782 | NSUN2 | MISU; MRT5; SAKI; TRM4 | NOP2/Sun RNA methyltransferase 2 |
| TCMBANKGE006691 | FGFR3 | ACH; CD333; CEK2; HSFGFR3EX; JTK4 | fibroblast growth factor receptor 3 |
| TCMBANKGE012602 | GP1BB | BDPLT1; BS; CD42C; GPIBB; GPIbbeta | glycoprotein Ib platelet subunit beta |
| TCMBANKGE001129 | ARNTL | BMAL1; BMAL1c; JAP3; MOP3; PASD3; TIC; bHLHe5 | aryl hydrocarbon receptor nuclear translocator like |
| TCMBANKGE008481 | VWF | F8VWF; VWD | von Willebrand factor |
| TCMBANKGE014661 | ZIC2 | HPE5 | Zic family member 2 |
| TCMBANKGE005925 | TRIP12 | MRD49; TRIP-12; TRIPC; ULF | thyroid hormone receptor interactor 12 |
| TCMBANKGE010784 | SURF1 | CMT4K | SURF1 cytochrome c oxidase assembly factor |
| TCMBANKGE002960 | NUP214 | CAIN; CAN; IIAE9 | nucleoporin 214 |
| TCMBANKGE008323 | NRXN3 | C14orf60 | neurexin 3 |
| TCMBANKGE008818 | TTC37 | KIAA0372; Ski3; THES | tetratricopeptide repeat domain 37 |
| TCMBANKGE000328 | PTPN11 | BPTP3; CFC; JMML; METCDS; NS1; PTP-1D; PTP2C; SH-PTP2; SH-PTP3; SHP2 | protein tyrosine phosphatase non-receptor type 11 |
| TCMBANKGE005493 | CCNK | CPR4; IDDHDF | cyclin K |
| TCMBANKGE008826 | LBR | C14SR; DHCR14B; LMN2R; PHA; PHASK; TDRD18 | lamin B receptor |
| TCMBANKGE005941 | FLNA | ABP-280; ABPX; CSBS; CVD1; FGS2; FLN; FLN-A; FLN1; FMD; MNS; NHBP; OPD; OPD1; OPD2; XLVD; XMVD | filamin A |
| TCMBANKGE000936 | GLIS3 | NDH; ZNF515 | GLIS family zinc finger 3 |
| TCMBANKGE009440 | PGAP1 | Bst1; ISPD3024; MRT42; SPG67 | post-GPI attachment to proteins inositol deacylase 1 |
| TCMBANKGE005669 | EFTUD2 | MFDGA; MFDM; SNRNP116; Snrp116; Snu114; U5-116KD | elongation factor Tu GTP binding domain containing 2 |
| TCMBANKGE012822 | PDLIM1 | CLIM1; CLP-36; CLP36; HEL-S-112; hCLIM1 | PDZ and LIM domain 1 |
| TCMBANKGE007879 | BMPR1A | 10q23del; ACVRLK3; ALK3; CD292; SKR5 | bone morphogenetic protein receptor type 1A |
| TCMBANKGE013001 | SMC1A | CDLS2; DXS423E; EIEE85; SB1.8; SMC1; SMC1L1; SMC1alpha; SMCB | structural maintenance of chromosomes 1A |
| TCMBANKGE000180 | TCF4 | CDG2T; E2-2; FECD3; ITF-2; ITF2; PTHS; SEF-2; SEF2; SEF2-1; SEF2-1A; SEF2-1B; SEF2-1D; TCF-4; bHLHb19 | transcription factor 4 |
| TCMBANKGE009089 | EXT1 | EXT; LGCR; LGS; TRPS2; TTV | exostosin glycosyltransferase 1 |
| TCMBANKGE001504 | TOP3B | TOP3B1 | DNA topoisomerase III beta |
| TCMBANKGE002478 | TFAP2B | AP-2B; AP2-B; PDA2 | transcription factor AP-2 beta |
| TCMBANKGE006218 | ANKRD11 | ANCO-1; ANCO1; LZ16; T13 | ankyrin repeat domain 11 |
| TCMBANKGE011383 | PHIP | BRWD2; CHUJANS; DCAF14; DIDOD; WDR11; ndrp | pleckstrin homology domain interacting protein |
| TCMBANKGE002027 | PACS2 | EIEE66; PACS-2; PACS1L | phosphofurin acidic cluster sorting protein 2 |
| TCMBANKGE014538 | LGSN | GLULD1; LGS | lengsin, lens protein with glutamine synthetase domain |
| TCMBANKGE002208 | POLR1C | AC40; HLD11; RPA39; RPA40; RPA5; RPAC1; RPC40; TCS3 | RNA polymerase I and III subunit C |
| TCMBANKGE005280 | KIF7 | ACLS; AGBK; HLS2; JBTS12; UNQ340 | kinesin family member 7 |
| TCMBANKGE009188 | COG8 | CDG2H; DOR1 | component of oligomeric golgi complex 8 |
| TCMBANKGE003194 | UBE2A | HHR6A; MRXS30; MRXSN; RAD6A; UBC2 | ubiquitin conjugating enzyme E2 A |
| TCMBANKGE005857 | Pax3 | Pax-3; Sp; Splchl2; splotch | paired box 3 |
| TCMBANKGE000771 | TWIST1 | ACS3; BPES2; BPES3; CRS; CRS1; CSO; SCS; SWCOS; TWIST; bHLHa38 | twist family bHLH transcription factor 1 |
| TCMBANKGE001226 | MED13L | MRFACD; PROSIT240; THRAP2; TRAP240L | mediator complex subunit 13L |
| TCMBANKGE003060 | SHOC2 | SIAA0862; SOC2; SUR8 | SHOC2 leucine rich repeat scaffold protein |
| TCMBANKGE010848 | PAFAH1B1 | LIS1; LIS2; MDCR; MDS; NudF; PAFAH | platelet activating factor acetylhydrolase 1b regulatory subunit 1 |
| TCMBANKGE000639 | HRAS | C-BAS/HAS; C-H-RAS; C-HA-RAS1; CTLO; H-RASIDX; HAMSV; HRAS1; RASH1; p21ras | HRas proto-oncogene, GTPase |
| TCMBANKGE013425 | AP1S2 | DC22; MRX59; MRXS21; MRXS5; MRXSF; PGS; SIGMA1B | adaptor related protein complex 1 subunit sigma 2 |
| TCMBANKGE004133 | KDM6A | KABUK2; UTX; bA386N14.2 | lysine demethylase 6A |
| TCMBANKGE009351 | FZD2 | Fz2; OMOD2; fz-2; fzE2; hFz2 | frizzled class receptor 2 |
| TCMBANKGE005887 | FAM20C | DMP-4; DMP4; G-CK; GEF-CK; RNS | FAM20C golgi associated secretory pathway kinase |
| TCMBANKGE007948 | CASK | CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8; hCASK | calcium/calmodulin dependent serine protein kinase |
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Dai SX Lab