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疾病ID:TCMBANKDI010717


疾病名:Congenital coloboma of iris


MeSH_Name:Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases


HPO_Name:-


UMLS_Name:Congenital Abnormality


DO_Name:disease of anatomical entity


疾病类型:disease


DisGeNET_Link:C0266551


MeSH_Link:C16; C11


HPO_Link:-


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
TCMBANKGE003771 ADNP ADNP1; HVDAS; MRD28 activity dependent neuroprotector homeobox
TCMBANKGE002686 CEP120 CCDC100; JBTS31; SRTD13 centrosomal protein 120
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
TCMBANKGE006401 ATP6V1A ARCL2D; ATP6A1; ATP6V1A1; HO68; IECEE3; VA68; VPP2; Vma1 ATPase H+ transporting V1 subunit A
TCMBANKGE006560 VPS13B CHS1; COH1 vacuolar protein sorting 13 homolog B
TCMBANKGE004050 TRAPPC11 C4orf41; FOIGR; GRY; LGMD2S; LGMDR18 trafficking protein particle complex 11
TCMBANKGE015178 DAG1 156DAG; A3a; AGRNR; DAG; LGMDR16; MDDGA9; MDDGC7; MDDGC9 dystroglycan 1
TCMBANKGE003804 FGFR2 BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; TK14; TK25 fibroblast growth factor receptor 2
TCMBANKGE010364 TMEM138 HSPC196 transmembrane protein 138
TCMBANKGE009204 MBTPS2 BRESEK; IFAP; KFSD; KFSDX; OI19; OLMSX; S2P membrane bound transcription factor peptidase, site 2
TCMBANKGE000944 NOTCH3 CADASIL; CADASIL1; CASIL; IMF2; LMNS notch receptor 3
TCMBANKGE000447 TSC2 LAM; PPP1R160; TSC4 TSC complex subunit 2
TCMBANKGE013904 COX7B APLCC; LSDMCA2 cytochrome c oxidase subunit 7B
TCMBANKGE006570 PIBF1 C13orf24; CEP90; JBTS33; PIBF progesterone immunomodulatory binding factor 1
TCMBANKGE005102 CRYAA CRYA1; CTRCT9; HSPB4 crystallin alpha A
TCMBANKGE009869 GNAQ CMC1; G-ALPHA-q; GAQ; SWS G protein subunit alpha q
TCMBANKGE015013 ANK1 ANK; SPH1; SPH2 ankyrin 1
TCMBANKGE009409 COL4A1 BSVD; BSVD1; COL4A1s; PADMAL; RATOR collagen type IV alpha 1 chain
TCMBANKGE010866 Igbp1 AI115586; AI662457; AW208785; C81413; Pc52; Tap42; p52 immunoglobulin (CD79A) binding protein 1
TCMBANKGE006661 PNPLA6 BNHS; LNMS; NTE; NTEMND; OMCS; SPG39; iPLA2delta; sws patatin like phospholipase domain containing 6
TCMBANKGE009984 B9D1 B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1 B9 domain containing 1
TCMBANKGE002545 ARL3 ARFL3; JBTS35; RP83 ADP ribosylation factor like GTPase 3
TCMBANKGE002585 HYLS1 HLS HYLS1 centriolar and ciliogenesis associated
TCMBANKGE002962 NDUFB11 CI-ESSS; ESSS; MC1DN30; NP17.3; Np15; P17.3 NADH:ubiquinone oxidoreductase subunit B11
TCMBANKGE010949 CENPF CENF; CILD31; PRO1779; STROMS; hcp-1 centromere protein F
TCMBANKGE011043 NELFA NELF-A; P/OKcl.15; WHSC2 negative elongation factor complex member A
TCMBANKGE010653 FLI1 BDPLT21; EWSR2; SIC-1 Fli-1 proto-oncogene, ETS transcription factor
TCMBANKGE010741 GDF3 KFS3; MCOP7; MCOPCB6 growth differentiation factor 3
TCMBANKGE011851 SEMA3E M-SEMAH; M-SemaK; SEMAH; coll-5 semaphorin 3E
TCMBANKGE011623 WNT3 INT4; TETAMS Wnt family member 3
TCMBANKGE009239 SRD5A3 CDG1P; CDG1Q; KRIZI; SRD5A2L; SRD5A2L1 steroid 5 alpha-reductase 3
TCMBANKGE008710 TCTN1 JBTS13; TECT1 tectonic family member 1
TCMBANKGE005993 POGZ MRD37; WHSUS; ZNF280E; ZNF635; ZNF635m pogo transposable element derived with ZNF domain
TCMBANKGE007698 KIAA0586 JBTS23; SRTD14; Talpid3 KIAA0586
TCMBANKGE002967 AAAS AAA; AAASb; ADRACALA; ADRACALIN; ALADIN; GL003 aladin WD repeat nucleoporin
TCMBANKGE001037 MMP2 CLG4; CLG4A; MMP-2; MMP-II; MONA; TBE-1 matrix metallopeptidase 2
TCMBANKGE012876 KATNIP JBTS26; KIAA0556 katanin interacting protein
TCMBANKGE000982 ROR1 NTRKR1; dJ537F10.1 receptor tyrosine kinase like orphan receptor 1
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-)
TCMBANKGE006001 MPDZ HYC2; MUPP1 multiple PDZ domain crumbs cell polarity complex component
TCMBANKGE012496 ARL13B ARL2L1; JBTS8 ADP ribosylation factor like GTPase 13B
TCMBANKGE006521 PTCH2 PTC2 patched 2
TCMBANKGE008192 CRYBB2 CCA2; CRYB2; CRYB2A; CTRCT3; D22S665 crystallin beta B2
TCMBANKGE013050 LETM1 SLC55A1 leucine zipper and EF-hand containing transmembrane protein 1
TCMBANKGE007385 NRAS ALPS4; CMNS; N-ras; NCMS; NRAS1; NS6 NRAS proto-oncogene, GTPase
TCMBANKGE003228 LRP2 DBS; GP330; LRP-2 LDL receptor related protein 2
TCMBANKGE008375 CSPP1 CSPP; CSPP-L; JBTS21 centrosome and spindle pole associated protein 1
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
TCMBANKGE010812 ALG3 CDG1D; CDGS4; CDGS6; D16Ertd36e; NOT56L; Not56; not ALG3 alpha-1,3- mannosyltransferase
TCMBANKGE000916 SMO CRJS; FZD11; Gx; SMOH smoothened, frizzled class receptor
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
TCMBANKGE011593 TDGF1 CR; CR-1; CRGF; CRIPTO teratocarcinoma-derived growth factor 1
TCMBANKGE000904 PTCH1 BCNS; NBCCS; PTC; PTC1; PTCH patched 1
TCMBANKGE011067 MAFB DURS3; KRML; MCTO MAF bZIP transcription factor B
TCMBANKGE009274 TGIF1 HPE4; TGIF TGFB induced factor homeobox 1
TCMBANKGE003709 ALG2 CDG1I; CDGIi; CMS14; CMSTA3; NET38; hALPG2 ALG2 alpha-1,3/1,6-mannosyltransferase
TCMBANKGE013909 DACT1 DAPPER; DAPPER1; DPR1; FRODO; HDPR1; TBS2; THYEX3 dishevelled binding antagonist of beta catenin 1
TCMBANKGE011730 POMGNT2 AGO61; C3orf39; GTDC2; MDDGA8; MDDGC8 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
TCMBANKGE006529 INPP5E CORS1; CPD4; JBTS1; MORMS; PPI5PIV; pharbin inositol polyphosphate-5-phosphatase E
TCMBANKGE014661 ZIC2 HPE5 Zic family member 2
TCMBANKGE000109 ACTB BRWS1; PS1TP5BP1 actin beta
TCMBANKGE006981 SIN3A WITKOS SIN3 transcription regulator family member A
TCMBANKGE008102 FZD5 C2orf31; HFZ5 frizzled class receptor 5
TCMBANKGE008659 SMCHD1 BAMS; FSHD2 structural maintenance of chromosomes flexible hinge domain containing 1
TCMBANKGE005013 CRYBA4 CTRCT23; CYRBA4; MCOPCT4 crystallin beta A4
TCMBANKGE011867 RSPO2 CRISTIN2; HHRRD; TETAMS2 R-spondin 2
TCMBANKGE002584 CHD7 CRG; HH5; IS3; KAL5 chromodomain helicase DNA binding protein 7
TCMBANKGE000912 SHH HHG1; HLP3; HPE3; MCOPCB5; SMMCI; ShhNC; TPT; TPTPS sonic hedgehog signaling molecule
TCMBANKGE000030 FKRP FKTR; LGMD2I; LGMDR9; MDC1C; MDDGA5; MDDGB5; MDDGC5 fukutin related protein
TCMBANKGE004968 FGF8 AIGF; FGF-8; HBGF-8; HH6; KAL6 fibroblast growth factor 8
TCMBANKGE009995 ACTG1 ACT; ACTG; DFNA20; DFNA26; HEL-176 actin gamma 1
TCMBANKGE005941 FLNA ABP-280; ABPX; CSBS; CVD1; FGS2; FLN; FLN-A; FLN1; FMD; MNS; NHBP; OPD; OPD1; OPD2; XLVD; XMVD filamin A
TCMBANKGE011963 RBP4 MCOPCB10; RDCCAS retinol binding protein 4
TCMBANKGE007130 BCOR ANOP2; MAA2; MCOPS2 BCL6 corepressor
TCMBANKGE007122 SALL1 HEL-S-89; HSAL1; Sal-1; TBS; ZNF794 spalt like transcription factor 1
TCMBANKGE007651 NOTCH2 AGS2; HJCYS; hN2 notch receptor 2
TCMBANKGE011994 TMEM237 ALS2CR4; JBTS14 transmembrane protein 237
TCMBANKGE002292 ZNF423 Ebfaz; JBTS19; NPHP14; OAZ; Roaz; ZFP423; Zfp104; hOAZ zinc finger protein 423
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
TCMBANKGE001060 YAP1 COB1; YAP; YAP2; YAP65; YKI Yes1 associated transcriptional regulator
TCMBANKGE009587 GAS1 - growth arrest specific 1
TCMBANKGE004381 NODAL HTX5 nodal growth differentiation factor
TCMBANKGE015037 TSC1 LAM; TSC TSC complex subunit 1
TCMBANKGE000899 GLI2 CJS; HPE9; PHS2; THP1; THP2 GLI family zinc finger 2
TCMBANKGE000846 MMP14 MMP-14; MMP-X1; MT-MMP; MT-MMP 1; MT1-MMP; MT1MMP; MTMMP1; WNCHRS matrix metallopeptidase 14
TCMBANKGE008567 TCOF1 MFD1; TCS; TCS1; treacle treacle ribosome biogenesis factor 1
TCMBANKGE011723 DHCR7 SLOS 7-dehydrocholesterol reductase
TCMBANKGE005276 ARMC9 ARM; JBTS30; KU-MEL-1; NS21 armadillo repeat containing 9
TCMBANKGE007328 PAX6 AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA; WAGR paired box 6
TCMBANKGE010827 CHN1 ARHGAP2; CHN; DURS2; NC; RHOGAP2 chimerin 1
TCMBANKGE002735 RPGRIP1L CORS3; FTM; JBTS7; MKS5; NPHP8; PPP1R134 RPGRIP1 like
TCMBANKGE009810 NAA10 ARD1; ARD1A; ARD1P; DXS707; MCOPS1; NATD; OGDNS; TE2; hARD1 N-alpha-acetyltransferase 10, NatA catalytic subunit
TCMBANKGE008528 DLL1 DELTA1; DL1; Delta; NEDBAS delta like canonical Notch ligand 1
TCMBANKGE006028 ALX3 FND; FND1 ALX homeobox 3
TCMBANKGE012902 GMPPA AAMR GDP-mannose pyrophosphorylase A
TCMBANKGE002208 POLR1C AC40; HLD11; RPA39; RPA40; RPA5; RPAC1; RPC40; TCS3 RNA polymerase I and III subunit C
TCMBANKGE000895 SUFU JBTS32; PRO1280; SUFUH; SUFUXL SUFU negative regulator of hedgehog signaling
TCMBANKGE001672 FGF3 HBGF-3; INT2 fibroblast growth factor 3
TCMBANKGE012420 TMEM67 JBTS6; MECKELIN; MKS3; NPHP11; TNEM67 transmembrane protein 67
TCMBANKGE001605 MAF AYGRP; CCA4; CTRCT21; c-MAF MAF bZIP transcription factor
TCMBANKGE000824 RB1 OSRC; PPP1R130; RB; p105-Rb; p110-RB1; pRb; pp110 RB transcriptional corepressor 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)
TCMBANKGE014292 COL25A1 AMY; CFEOM5; CLAC; CLAC-P; CLACP collagen type XXV alpha 1 chain