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疾病ID:TCMBANKDI016840
疾病名:Congenital ocular coloboma (disorder)
MeSH_Name:Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
HPO_Name:Abnormality of the eye
UMLS_Name:Congenital Abnormality
DO_Name:disease of anatomical entity
疾病类型:disease
DisGeNET_Link:C0009363
MeSH_Link:C16; C11
HPO_Link:HP:0000478
UMLS_Link:T019
DO_Link:DOID:7
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 |
|---|
| TCMBANKGE012857 | SLBP | HBP | stem-loop binding protein |
| TCMBANKGE003578 | RARA | NR1B1; RAR | retinoic acid receptor alpha |
| TCMBANKGE006855 | BCL6 | BCL5; BCL6A; LAZ3; ZBTB27; ZNF51 | BCL6 transcription repressor |
| TCMBANKGE009296 | ESCO2 | 2410004I17Rik; EFO2; EFO2p; RBS; hEFO2 | establishment of sister chromatid cohesion N-acetyltransferase 2 |
| TCMBANKGE010364 | TMEM138 | HSPC196 | transmembrane protein 138 |
| TCMBANKGE000700 | LCP1 | CP64; HEL-S-37; L-PLASTIN; LC64P; LPL; PLS2 | lymphocyte cytosolic protein 1 |
| TCMBANKGE008782 | TBX2 | VETD | T-box transcription factor 2 |
| TCMBANKGE001104 | TGFB2 | G-TSF; LDS4; TGF-beta2 | transforming growth factor beta 2 |
| TCMBANKGE005102 | CRYAA | CRYA1; CTRCT9; HSPB4 | crystallin alpha A |
| TCMBANKGE007781 | ZNF462 | WSKA; ZFPIP; Zfp462 | zinc finger protein 462 |
| TCMBANKGE009735 | PUF60 | FIR; RoBPI; SIAHBP1; VRJS | poly(U) binding splicing factor 60 |
| TCMBANKGE000370 | MIR204 | MIRN204; RDICC; miRNA204; mir-204 | microRNA 204 |
| TCMBANKGE007738 | BRPF1 | BR140; IDDDFP | bromodomain and PHD finger containing 1 |
| TCMBANKGE009341 | PACS1 | MRD17; SHMS | phosphofurin acidic cluster sorting protein 1 |
| TCMBANKGE000440 | HDAC1 | GON-10; HD1; KDAC1; RPD3; RPD3L1 | histone deacetylase 1 |
| TCMBANKGE011178 | COL4A5 | ASLN; ATS; ATS1; CA54 | collagen type IV alpha 5 chain |
| TCMBANKGE002341 | FADD | GIG3; MORT1 | Fas associated via death domain |
| TCMBANKGE010741 | GDF3 | KFS3; MCOP7; MCOPCB6 | growth differentiation factor 3 |
| TCMBANKGE006700 | B4GALT7 | EDSP1; EDSSLA; EDSSPD1; XGALT1; XGPT; XGPT1 | beta-1,4-galactosyltransferase 7 |
| TCMBANKGE007507 | PAX2 | FSGS7; PAPRS | paired box 2 |
| TCMBANKGE000166 | EP300 | KAT3B; MKHK2; RSTS2; p300 | E1A binding protein p300 |
| TCMBANKGE009239 | SRD5A3 | CDG1P; CDG1Q; KRIZI; SRD5A2L; SRD5A2L1 | steroid 5 alpha-reductase 3 |
| TCMBANKGE013379 | PIGL | CHIME | phosphatidylinositol glycan anchor biosynthesis class L |
| TCMBANKGE012462 | RAX | MCOP3; RX | retina and anterior neural fold homeobox |
| TCMBANKGE005281 | ALDH1A3 | ALDH1A6; ALDH6; MCOP8; RALDH3 | aldehyde dehydrogenase 1 family member A3 |
| TCMBANKGE004802 | POMGNT1 | GNTI.2; GnT I.2; LGMD2O; LGMDR15; MEB; MGAT1.2; RP76; gnT-I.2 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
| TCMBANKGE004012 | SIX6 | MCOPCT2; ODRMD; OPTX2; Six9 | SIX homeobox 6 |
| TCMBANKGE011668 | RAP1A | C21KG; G-22K; KREV-1; KREV1; RAP1; SMGP21 | RAP1A, member of RAS oncogene family |
| TCMBANKGE001676 | GMPPB | LGMDR19; MDDGA14; MDDGB14; MDDGC14 | GDP-mannose pyrophosphorylase B |
| 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 |
| TCMBANKGE011009 | BMP7 | OP-1 | bone morphogenetic protein 7 |
| TCMBANKGE003746 | CREBBP | CBP; KAT3A; MKHK1; RSTS; RSTS1 | CREB binding protein |
| TCMBANKGE007385 | NRAS | ALPS4; CMNS; N-ras; NCMS; NRAS1; NS6 | NRAS proto-oncogene, GTPase |
| TCMBANKGE012164 | STRA6 | MCOPCB8; MCOPS9; PP14296 | signaling receptor and transporter of retinol STRA6 |
| TCMBANKGE000523 | BMP4 | BMP2B; BMP2B1; MCOPS6; OFC11; ZYME | bone morphogenetic protein 4 |
| TCMBANKGE000613 | CEP290 | 3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4; NPHP6; POC3; SLSN6; rd16 | centrosomal protein 290 |
| TCMBANKGE004168 | SALL4 | DRRS; HSAL4; ZNF797 | spalt like transcription factor 4 |
| TCMBANKGE000916 | SMO | CRJS; FZD11; Gx; SMOH | smoothened, frizzled class receptor |
| TCMBANKGE011442 | HMGB3 | HMG-2a; HMG-4; HMG2A; HMG4 | high mobility group box 3 |
| TCMBANKGE000980 | SOX2 | ANOP3; MCOPS3 | SRY-box transcription factor 2 |
| TCMBANKGE015067 | POLR1D | AC19; POLR1C; RPA16; RPA9; RPAC2; RPC16; RPO1-3; TCS2 | RNA polymerase I and III subunit D |
| TCMBANKGE000139 | POR | CPR; CYPOR; P450R | cytochrome p450 oxidoreductase |
| TCMBANKGE000200 | CYP1B1 | ASGD6; CP1B; CYPIB1; GLC3A; P4501B1 | cytochrome P450 family 1 subfamily B member 1 |
| TCMBANKGE005782 | NDP | EVR2; FEVR; ND | norrin cystine knot growth factor NDP |
| TCMBANKGE010476 | TMX3 | PDIA13; TXNDC10 | thioredoxin related transmembrane protein 3 |
| TCMBANKGE003709 | ALG2 | CDG1I; CDGIi; CMS14; CMSTA3; NET38; hALPG2 | ALG2 alpha-1,3/1,6-mannosyltransferase |
| TCMBANKGE007389 | DPYD | DHP; DHPDHASE; DPD | dihydropyrimidine dehydrogenase |
| TCMBANKGE000109 | ACTB | BRWS1; PS1TP5BP1 | actin beta |
| TCMBANKGE008102 | FZD5 | C2orf31; HFZ5 | frizzled class receptor 5 |
| TCMBANKGE008659 | SMCHD1 | BAMS; FSHD2 | structural maintenance of chromosomes flexible hinge domain containing 1 |
| TCMBANKGE002584 | CHD7 | CRG; HH5; IS3; KAL5 | chromodomain helicase DNA binding protein 7 |
| TCMBANKGE000030 | FKRP | FKTR; LGMD2I; LGMDR9; MDC1C; MDDGA5; MDDGB5; MDDGC5 | fukutin related protein |
| TCMBANKGE000328 | PTPN11 | BPTP3; CFC; JMML; METCDS; NS1; PTP-1D; PTP2C; SH-PTP2; SH-PTP3; SHP2 | protein tyrosine phosphatase non-receptor type 11 |
| TCMBANKGE009995 | ACTG1 | ACT; ACTG; DFNA20; DFNA26; HEL-176 | actin gamma 1 |
| TCMBANKGE011963 | RBP4 | MCOPCB10; RDCCAS | retinol binding protein 4 |
| TCMBANKGE000530 | SPINT2 | DIAR3; HAI-2; HAI2; Kop; PB | serine peptidase inhibitor, Kunitz type 2 |
| TCMBANKGE007130 | BCOR | ANOP2; MAA2; MCOPS2 | BCL6 corepressor |
| TCMBANKGE011994 | TMEM237 | ALS2CR4; JBTS14 | transmembrane protein 237 |
| TCMBANKGE013764 | LAMB1 | CLM; LIS5 | laminin subunit beta 1 |
| TCMBANKGE001056 | KRAS | C-K-RAS; C-K-RAS; CFC2; K-RAS2A; K-RAS2B; K-RAS4A; K-RAS4B; K-Ras; K-Ras 2; KI-RAS; KRAS1; KRAS2; NS; NS3; OES; RALD; RASK2; c-Ki-ras; c-Ki-ras2 | KRAS proto-oncogene, GTPase |
| TCMBANKGE007879 | BMPR1A | 10q23del; ACVRLK3; ALK3; CD292; SKR5 | bone morphogenetic protein receptor type 1A |
| TCMBANKGE001060 | YAP1 | COB1; YAP; YAP2; YAP65; YKI | Yes1 associated transcriptional regulator |
| TCMBANKGE000377 | MITF | CMM8; COMMAD; MI; WS2; WS2A; bHLHe32 | melanocyte inducing transcription factor |
| TCMBANKGE010482 | C3AR1 | AZ3B; C3AR; HNFAG09 | complement C3a receptor 1 |
| TCMBANKGE003973 | SCRIB | CRIB1; SCRB1; SCRIB1; Vartul | scribble planar cell polarity protein |
| TCMBANKGE007328 | PAX6 | AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA; WAGR | paired box 6 |
| TCMBANKGE004854 | RNF2 | BAP-1; BAP1; DING; HIPI3; RING1B; RING2 | ring finger protein 2 |
| TCMBANKGE009046 | ALDH7A1 | ATQ1; EPD; PDE | aldehyde dehydrogenase 7 family member A1 |
| TCMBANKGE002735 | RPGRIP1L | CORS3; FTM; JBTS7; MKS5; NPHP8; PPP1R134 | RPGRIP1 like |
| TCMBANKGE006028 | ALX3 | FND; FND1 | ALX homeobox 3 |
| TCMBANKGE012878 | PDE6D | JBTS22; PDED | phosphodiesterase 6D |
| TCMBANKGE002208 | POLR1C | AC40; HLD11; RPA39; RPA40; RPA5; RPAC1; RPC40; TCS3 | RNA polymerase I and III subunit C |
| TCMBANKGE010186 | RARB | HAP; MCOPS12; NR1B2; RARbeta1; RRB2 | retinoic acid receptor beta |
| TCMBANKGE001672 | FGF3 | HBGF-3; INT2 | fibroblast growth factor 3 |
| TCMBANKGE008634 | FOXC1 | ARA; ASGD3; FKHL7; FREAC-3; FREAC3; IGDA; IHG1; IRID1; RIEG3 | forkhead box C1 |
| TCMBANKGE012177 | RAP1B | K-REV; RAL1B | RAP1B, member of RAS oncogene family |
| TCMBANKGE012420 | TMEM67 | JBTS6; MECKELIN; MKS3; NPHP11; TNEM67 | transmembrane protein 67 |
| TCMBANKGE008804 | IPO13 | IMP13; KAP13; LGL2; RANBP13 | importin 13 |
| TCMBANKGE002843 | GDF6 | BMP-13; BMP13; CDMP2; KFM; KFS; KFS1; KFSL; SGM1; SYNS4 | growth differentiation factor 6 |
| TCMBANKGE009348 | ELP4 | AN; AN2; C11orf19; PAX6NEB; PAXNEB; dJ68P15A.1; hELP4 | elongator acetyltransferase complex subunit 4 |
| TCMBANKGE001605 | MAF | AYGRP; CCA4; CTRCT21; c-MAF | MAF bZIP transcription factor |
| TCMBANKGE001226 | MED13L | MRFACD; PROSIT240; THRAP2; TRAP240L | mediator complex subunit 13L |
| 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 |
| TCMBANKGE003670 | ABCB6 | ABC; LAN; MTABC3; PRP; umat | ATP binding cassette subfamily B member 6 (Langereis blood group) |
| TCMBANKGE004133 | KDM6A | KABUK2; UTX; bA386N14.2 | lysine demethylase 6A |
| TCMBANKGE006710 | KIF21A | CFEOM1; FEOM1; FEOM3A | kinesin family member 21A |
| TCMBANKGE008404 | HMX1 | H6; NKX5-3 | H6 family homeobox 1 |
| TCMBANKGE007948 | CASK | CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8; hCASK | calcium/calmodulin dependent serine protein kinase |
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Dai SX Lab