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疾病ID:TCMBANKDI001342
疾病名:Macrostomia
MeSH_Name:Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
HPO_Name:Abnormality of head or neck
UMLS_Name:Congenital Abnormality
DO_Name:-
疾病类型:disease
DisGeNET_Link:C0024433
MeSH_Link:C16; C07
HPO_Link:HP:0000152
UMLS_Link:T019
DO_Link:-
HERB_ID:-
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 |
| TCMBANKGE008755 | RNF113A | Cwc24; RNF113; TTD5; ZNF183 | ring finger protein 113A |
| TCMBANKGE005232 | DLG3 | MRX; MRX90; NEDLG; PPP1R82; SAP102; XLMR | discs large MAGUK scaffold protein 3 |
| TCMBANKGE001164 | RAF1 | CMD1NN; CRAF; NS5; Raf-1; c-Raf | Raf-1 proto-oncogene, serine/threonine kinase |
| TCMBANKGE013590 | TALDO1 | TAL; TAL-H; TALDOR; TALH | transaldolase 1 |
| TCMBANKGE013320 | HDAC6 | CPBHM; HD6; JM21; PPP1R90 | histone deacetylase 6 |
| TCMBANKGE014455 | RAI1 | SMCR; SMS | retinoic acid induced 1 |
| TCMBANKGE000711 | SOX4 | CSS10; EVI16 | SRY-box transcription factor 4 |
| TCMBANKGE002746 | PIGN | MCAHS; MCAHS1; MCD4; MDC4; PIG-N | phosphatidylinositol glycan anchor biosynthesis class N |
| TCMBANKGE007917 | IDUA | IDA; MPS1; MPSI | alpha-L-iduronidase |
| TCMBANKGE012867 | AGA | AGU; ASRG; GA | aspartylglucosaminidase |
| TCMBANKGE010502 | SET | 2PP2A; I2PP2A; IGAAD; IPP2A2; MRD58; PHAPII; TAF-I; TAF-IBETA | SET nuclear proto-oncogene |
| TCMBANKGE007738 | BRPF1 | BR140; IDDDFP | bromodomain and PHD finger containing 1 |
| TCMBANKGE012728 | SH3PXD2B | FAD49; FTHS; HOFI; KIAA1295; TKS4; TSK4 | SH3 and PX domains 2B |
| TCMBANKGE010067 | NALCN | CLIFAHDD; CanIon; IHPRF; IHPRF1; INNFD; VGCNL1; bA430M15.1 | sodium leak channel, non-selective |
| TCMBANKGE009341 | PACS1 | MRD17; SHMS | phosphofurin acidic cluster sorting protein 1 |
| TCMBANKGE010711 | ABCC9 | ABC37; ATFB12; CANTU; CMD1O; SUR2 | ATP binding cassette subfamily C member 9 |
| TCMBANKGE007466 | FUCA1 | FUCA | alpha-L-fucosidase 1 |
| TCMBANKGE004069 | AP4B1 | BETA-4; CPSQ5; SPG47 | adaptor related protein complex 4 subunit beta 1 |
| TCMBANKGE000173 | BRAF | B-RAF1; B-raf; BRAF1; NS7; RAFB1 | B-Raf proto-oncogene, serine/threonine kinase |
| TCMBANKGE011458 | CLIP2 | CLIP; CLIP-115; CYLN2; WBSCR3; WBSCR4; WSCR3; WSCR4 | CAP-Gly domain containing linker protein 2 |
| TCMBANKGE009636 | MGAT2 | CDG2A; CDGS2; GLCNACTII; GNT-II; GNT2 | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase |
| TCMBANKGE014099 | CDC42 | CDC42Hs; G25K; TKS | cell division cycle 42 |
| TCMBANKGE010199 | ARID1B | 6A3-5; BAF250B; BRIGHT; CSS1; DAN15; ELD/OSA1; MRD12; OSA2; P250R | AT-rich interaction domain 1B |
| TCMBANKGE002833 | MED12 | ARC240; CAGH45; FGS1; HOPA; Kto; MED12S; OHDOX; OKS; OPA1; TNRC11; TRAP230 | mediator complex subunit 12 |
| TCMBANKGE007448 | SSR4 | CDG1Y; TRAPD | signal sequence receptor subunit 4 |
| TCMBANKGE004515 | NXN | NRX; RRS2; TRG-4 | nucleoredoxin |
| TCMBANKGE010949 | CENPF | CENF; CILD31; PRO1779; STROMS; hcp-1 | centromere protein F |
| TCMBANKGE010670 | KCNJ8 | KIR6.1; uKATP-1 | potassium inwardly rectifying channel subfamily J member 8 |
| TCMBANKGE001136 | MECP2 | AUTSX3; MRX16; MRX79; MRXS13; MRXSL; PPMX; RS; RTS; RTT | methyl-CpG binding protein 2 |
| TCMBANKGE014155 | STAG1 | MRD47; SA1; SCC3A | stromal antigen 1 |
| TCMBANKGE000406 | CDKL5 | CFAP247; EIEE2; ISSX; STK9 | cyclin dependent kinase like 5 |
| TCMBANKGE005872 | ROR2 | BDB; BDB1; NTRKR2 | receptor tyrosine kinase like orphan receptor 2 |
| TCMBANKGE013862 | SMARCE1 | BAF57; CSS5 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 |
| TCMBANKGE005274 | GPC3 | DGSX; GTR2-2; MXR7; OCI-5; SDYS; SGB; SGBS; SGBS1 | glypican 3 |
| TCMBANKGE012490 | SF3B4 | AFD1; Hsh49; SAP49; SF3b49 | splicing factor 3b subunit 4 |
| TCMBANKGE005993 | POGZ | MRD37; WHSUS; ZNF280E; ZNF635; ZNF635m | pogo transposable element derived with ZNF domain |
| TCMBANKGE000282 | ELN | ADCL1; SVAS; WBS; WS | elastin |
| TCMBANKGE013379 | PIGL | CHIME | phosphatidylinositol glycan anchor biosynthesis class L |
| TCMBANKGE014401 | AP4M1 | CPSQ3; MU-4; MU-ARP2; SPG50 | adaptor related protein complex 4 subunit mu 1 |
| TCMBANKGE007425 | UBE3B | BPIDS; KOS | ubiquitin protein ligase E3B |
| TCMBANKGE008559 | GJB2 | BAPS; CX26; DFNA3; DFNA3A; DFNB1; DFNB1A; HID; KID; NSRD1; PPK | gap junction protein beta 2 |
| TCMBANKGE000275 | STXBP1 | MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1; UNC18; unc-18A; unc18-1 | syntaxin binding protein 1 |
| TCMBANKGE005249 | ATP6V1B2 | ATP6B1B2; ATP6B2; DOOD; HO57; VATB; VPP3; Vma2; ZLS2 | ATPase H+ transporting V1 subunit B2 |
| TCMBANKGE005767 | SNIP1 | PML1; PMRED | Smad nuclear interacting protein 1 |
| TCMBANKGE000231 | MAP2K1 | CFC3; MAPKK1; MEK1; MKK1; PRKMK1 | mitogen-activated protein kinase kinase 1 |
| TCMBANKGE006521 | PTCH2 | PTC2 | patched 2 |
| TCMBANKGE007436 | ZNF148 | BERF-1; BFCOL1; GDACCF; HT-BETA; ZBP-89; ZFP148; pHZ-52 | zinc finger protein 148 |
| TCMBANKGE004181 | GLB1 | EBP; ELNR1; MPS4B | galactosidase beta 1 |
| TCMBANKGE000346 | RPS6KA3 | CLS; HU-3; ISPK-1; MAPKAPK1B; MRX19; RSK; RSK2; S6K-alpha3; p90-RSK2; pp90RSK2 | ribosomal protein S6 kinase A3 |
| TCMBANKGE004724 | FBN1 | ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFLS; MFS1; OCTD; SGS; SSKS; WMS; WMS2 | fibrillin 1 |
| TCMBANKGE013664 | KLHL15 | HEL-S-305 | kelch like family member 15 |
| TCMBANKGE001106 | MTOR | FRAP; FRAP1; FRAP2; RAFT1; RAPT1; SKS | mechanistic target of rapamycin kinase |
| TCMBANKGE009241 | TRRAP | DEDDFA; DFNA75; PAF350/400; PAF400; STAF40; TR-AP; Tra1 | transformation/transcription domain associated protein |
| TCMBANKGE015067 | POLR1D | AC19; POLR1C; RPA16; RPA9; RPAC2; RPC16; RPO1-3; TCS2 | RNA polymerase I and III subunit D |
| TCMBANKGE006956 | NONO | MRXS34; NMT55; NRB54; P54; P54NRB; PPP1R114 | non-POU domain containing octamer binding |
| TCMBANKGE010873 | HUWE1 | ARF-BP1; HECTH9; HSPC272; Ib772; LASU1; MRXST; MULE; URE-B1; UREB1 | HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
| TCMBANKGE011782 | NSUN2 | MISU; MRT5; SAKI; TRM4 | NOP2/Sun RNA methyltransferase 2 |
| TCMBANKGE006982 | ARID2 | BAF200; CSS6; p200 | AT-rich interaction domain 2 |
| TCMBANKGE004041 | SPECC1L | CYTSA; GBBB2; OBLFC1; TBHS | sperm antigen with calponin homology and coiled-coil domains 1 like |
| TCMBANKGE013909 | DACT1 | DAPPER; DAPPER1; DPR1; FRODO; HDPR1; TBS2; THYEX3 | dishevelled binding antagonist of beta catenin 1 |
| TCMBANKGE008334 | MBD5 | MRD1 | methyl-CpG binding domain protein 5 |
| TCMBANKGE005541 | GTF2IRD1 | BEN; CREAM1; GTF3; MUSTRD1; RBAP2; WBS; WBSCR11; WBSCR12; hMusTRD1alpha1 | GTF2I repeat domain containing 1 |
| TCMBANKGE014495 | ATIC | AICAR; AICARFT; HEL-S-70p; IMPCHASE; PURH | 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase |
| TCMBANKGE005925 | TRIP12 | MRD49; TRIP-12; TRIPC; ULF | thyroid hormone receptor interactor 12 |
| TCMBANKGE007389 | DPYD | DHP; DHPDHASE; DPD | dihydropyrimidine dehydrogenase |
| TCMBANKGE000410 | NTNG1 | Lmnt1 | netrin G1 |
| TCMBANKGE008521 | GALNS | GALNAC6S; GAS; GalN6S; MPS4A | galactosamine (N-acetyl)-6-sulfatase |
| TCMBANKGE000109 | ACTB | BRWS1; PS1TP5BP1 | actin beta |
| TCMBANKGE009080 | PMM2 | CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2 | phosphomannomutase 2 |
| TCMBANKGE008249 | SRCAP | DOMO1; EAF1; FLHS; SWR1 | Snf2 related CREBBP activator protein |
| TCMBANKGE009945 | KDM6B | JMJD3; NEDCFSA | lysine demethylase 6B |
| TCMBANKGE009877 | GPC4 | K-glypican; KPTS | glypican 4 |
| TCMBANKGE008818 | TTC37 | KIAA0372; Ski3; THES | tetratricopeptide repeat domain 37 |
| TCMBANKGE009995 | ACTG1 | ACT; ACTG; DFNA20; DFNA26; HEL-176 | actin gamma 1 |
| TCMBANKGE007122 | SALL1 | HEL-S-89; HSAL1; Sal-1; TBS; ZNF794 | spalt like transcription factor 1 |
| TCMBANKGE007431 | RFC2 | RFC40 | replication factor C subunit 2 |
| TCMBANKGE004120 | IRX5 | HMMS; IRX-2a; IRXB2 | iroquois homeobox 5 |
| TCMBANKGE013140 | WDR4 | GAMOS6; MIGSB; TRM82; TRMT82; hWH | WD repeat domain 4 |
| TCMBANKGE002431 | ARID1A | B120; BAF250; BAF250a; BM029; C1orf4; CSS2; ELD; MRD14; OSA1; P270; SMARCF1; hELD; hOSA1 | AT-rich interaction domain 1A |
| TCMBANKGE009440 | PGAP1 | Bst1; ISPD3024; MRT42; SPG67 | post-GPI attachment to proteins inositol deacylase 1 |
| TCMBANKGE012517 | FLCN | BHD; DENND8B; FLCL | folliculin |
| TCMBANKGE001255 | ALG9 | CDG1L; DIBD1; GIKANIS; LOH11CR1J | ALG9 alpha-1,2-mannosyltransferase |
| TCMBANKGE009748 | BAZ1B | WBSCR10; WBSCR9; WSTF | bromodomain adjacent to zinc finger domain 1B |
| TCMBANKGE011805 | KCNH1 | EAG; EAG1; Kv10.1; TMBTS; ZLS1; h-eag; hEAG; hEAG1 | potassium voltage-gated channel subfamily H member 1 |
| TCMBANKGE007543 | INSR | CD220; HHF5 | insulin receptor |
| TCMBANKGE003655 | PTDSS1 | LMHD; PSS1; PSSA | phosphatidylserine synthase 1 |
| TCMBANKGE014133 | ADSL | AMPS; ASASE; ASL | adenylosuccinate lyase |
| TCMBANKGE011279 | NRXN1 | Hs.22998; PTHSL2; SCZD17 | neurexin 1 |
| 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 |
| TCMBANKGE012330 | LIMK1 | LIMK; LIMK-1 | LIM domain kinase 1 |
| TCMBANKGE008567 | TCOF1 | MFD1; TCS; TCS1; treacle | treacle ribosome biogenesis factor 1 |
| TCMBANKGE011723 | DHCR7 | SLOS | 7-dehydrocholesterol reductase |
| TCMBANKGE012239 | SMARCA2 | BAF190; BRM; NCBRS; SNF2; SNF2L2; SNF2LA; SWI2; Sth1p; hBRM; hSNF2a | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
| TCMBANKGE003675 | ZMYND11 | BRAM1; BS69; MRD30 | zinc finger MYND-type containing 11 |
| TCMBANKGE010772 | GATAD2B | MRD18; P66beta; p68 | GATA zinc finger domain containing 2B |
| TCMBANKGE001373 | ZSWIM6 | AFND; NEDMAGA | zinc finger SWIM-type containing 6 |
| TCMBANKGE006218 | ANKRD11 | ANCO-1; ANCO1; LZ16; T13 | ankyrin repeat domain 11 |
| TCMBANKGE002735 | RPGRIP1L | CORS3; FTM; JBTS7; MKS5; NPHP8; PPP1R134 | RPGRIP1 like |
| TCMBANKGE003452 | UBE3A | ANCR; AS; E6-AP; EPVE6AP; HPVE6A | ubiquitin protein ligase E3A |
| TCMBANKGE007167 | LIG4 | LIG4S | DNA ligase 4 |
| TCMBANKGE002027 | PACS2 | EIEE66; PACS-2; PACS1L | phosphofurin acidic cluster sorting protein 2 |
| TCMBANKGE007513 | GNS | G6S | glucosamine (N-acetyl)-6-sulfatase |
| TCMBANKGE000887 | PPM1D | IDDGIP; JDVS; PP2C-DELTA; WIP1 | protein phosphatase, Mg2+/Mn2+ dependent 1D |
| TCMBANKGE012196 | ATRX | JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX | ATRX chromatin remodeler |
| TCMBANKGE002208 | POLR1C | AC40; HLD11; RPA39; RPA40; RPA5; RPAC1; RPC40; TCS3 | RNA polymerase I and III subunit C |
| TCMBANKGE009792 | HNRNPH2 | FTP3; HNRPH'; HNRPH2; MRXSB; NRPH2; hnRNPH' | heterogeneous nuclear ribonucleoprotein H2 |
| TCMBANKGE012839 | STRADA | LYK5; NY-BR-96; PMSE; STRAD; STRAD alpha; Stlk | STE20 related adaptor alpha |
| TCMBANKGE009078 | AP4S1 | AP47B; CLA20; CLAPS4; CPSQ6; SPG52 | adaptor related protein complex 4 subunit sigma 1 |
| TCMBANKGE013109 | PSPH | PSP; PSPHD | phosphoserine phosphatase |
| TCMBANKGE012420 | TMEM67 | JBTS6; MECKELIN; MKS3; NPHP11; TNEM67 | transmembrane protein 67 |
| TCMBANKGE005548 | ACTL6B | ACTL6; BAF53B; EIEE76; IDDSSAD; arpNalpha | actin like 6B |
| TCMBANKGE003194 | UBE2A | HHR6A; MRXS30; MRXSN; RAD6A; UBC2 | ubiquitin conjugating enzyme E2 A |
| TCMBANKGE001226 | MED13L | MRFACD; PROSIT240; THRAP2; TRAP240L | mediator complex subunit 13L |
| TCMBANKGE010293 | SETBP1 | MRD29; SEB | SET binding protein 1 |
| TCMBANKGE004068 | CUL4B | CUL-4B; MRXHF2; MRXS15; MRXSC; SFM2 | cullin 4B |
| TCMBANKGE008757 | SMARCC2 | BAF170; CRACC2; CSS8; Rsc8 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 |
| TCMBANKGE013425 | AP1S2 | DC22; MRX59; MRXS21; MRXS5; MRXSF; PGS; SIGMA1B | adaptor related protein complex 1 subunit sigma 2 |
| TCMBANKGE004152 | GABBR2 | EIEE59; GABABR2; GPR51; GPRC3B; HG20; HRIHFB2099; NDPLHS | gamma-aminobutyric acid type B receptor subunit 2 |
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Dai SX Lab