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疾病ID:TCMBANKDI028326


疾病名:Smith-Magenis syndrome


MeSH_Name:Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases


HPO_Name:-


UMLS_Name:Disease or Syndrome


DO_Name:genetic disease; syndrome


疾病类型:disease


DisGeNET_Link:C0795864


MeSH_Link:C16; C10


HPO_Link:-


UMLS_Link:T047


DO_Link:DOID:630; DOID:225


HERB_ID:HBDIS011642


   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
TCMBANKGE003578 RARA NR1B1; RAR retinoic acid receptor alpha
TCMBANKGE001135 SREBF1 SREBP1; bHLHd1 sterol regulatory element binding transcription factor 1
TCMBANKGE014455 RAI1 SMCR; SMS retinoic acid induced 1
TCMBANKGE011688 S100A10 42C; ANX2L; ANX2LG; CAL1L; CLP11; Ca[1]; GP11; P11; p10 S100 calcium binding protein A10
TCMBANKGE000261 INS IDDM; IDDM1; IDDM2; ILPR; IRDN; MODY10; PNDM4 insulin
TCMBANKGE000162 MMP13 CLG3; MANDP1; MDST; MMP-13 matrix metallopeptidase 13
TCMBANKGE003205 WWOX D16S432E; EIEE28; FOR; FRA16D; HHCMA56; PRO0128; SCAR12; SDR41C1; WOX1 WW domain containing oxidoreductase
TCMBANKGE012128 IFIH1 AGS7; Hlcd; IDDM19; MDA-5; MDA5; RLR-2; SGMRT1 interferon induced with helicase C domain 1
TCMBANKGE004197 IQSEC2 BRAG1; IQ-ArfGEF; MRX1; MRX18; MRX78 IQ motif and Sec7 domain ArfGEF 2
TCMBANKGE002251 COPS3 CSN3; SGN3 COP9 signalosome subunit 3
TCMBANKGE004021 FMR1 FMRP; FRAXA; POF; POF1 FMRP translational regulator 1
TCMBANKGE013433 FLII FLI; FLIL; Fli1 FLII actin remodeling protein
TCMBANKGE003056 GAD2 GAD65 glutamate decarboxylase 2
TCMBANKGE005377 PMP22 CIDP; CMT1A; CMT1E; DSS; GAS-3; GAS3; HMSNIA; HNPP; Sp110 peripheral myelin protein 22
TCMBANKGE000986 ERBB2 CD340; HER-2; HER-2/neu; HER2; MLN 19; NEU; NGL; TKR1 erb-b2 receptor tyrosine kinase 2
TCMBANKGE010315 GDF1 CERS1; CHTD6; DORV; DTGA3; LAG1; LASS1; RAI; UOG1 growth differentiation factor 1
TCMBANKGE004006 RASD1 AGS1; DEXRAS1; MGC:26290 ras related dexamethasone induced 1
TCMBANKGE014061 PRPF31 NY-BR-99; PRP31; RP11; SNRNP61 pre-mRNA processing factor 31
TCMBANKGE000638 REM1 GD:REM; GES RRAD and GEM like GTPase 1
TCMBANKGE011129 GH1 GH; GH-N; GHB5; GHN; IGHD1A; IGHD1B; IGHD2; hGH-N growth hormone 1
TCMBANKGE009974 CLOCK KAT13D; bHLHe8 clock circadian regulator
TCMBANKGE007113 HDAC4 AHO3; BDMR; HA6116; HD4; HDAC-4; HDAC-A; HDACA histone deacetylase 4
TCMBANKGE014387 EXOSC6 EAP4; MTR3; Mtr3p; hMtr3p; p11 exosome component 6
TCMBANKGE002579 RNF112 BFP; ZNF179 ring finger protein 112
TCMBANKGE008334 MBD5 MRD1 methyl-CpG binding domain protein 5
TCMBANKGE001879 STS ARSC; ARSC1; ASC; ES; SSDD; XLI steroid sulfatase
TCMBANKGE008600 TCF20 AR1; DDVIBA; SPBP; TCF-20 transcription factor 20
TCMBANKGE009199 NUDT10 APS2; DIPP3-alpha; DIPP3a nudix hydrolase 10
TCMBANKGE012517 FLCN BHD; DENND8B; FLCL folliculin
TCMBANKGE008160 TNFRSF13B CD267; CVID; CVID2; IGAD2; RYZN; TACI; TNFRSF14B TNF receptor superfamily member 13B
TCMBANKGE000419 SMS MRSR; SPMSY; SRS; SpS spermine synthase
TCMBANKGE000092 DDX58 RIG-I; RIG1; RIGI; RLR-1; SGMRT2 DExD/H-box helicase 58
TCMBANKGE002577 NT5M dNT-2; dNT2; mdN 5',3'-nucleotidase, mitochondrial
TCMBANKGE004110 RNH1 RAI; RNH ribonuclease/angiogenin inhibitor 1
TCMBANKGE002453 MYO15A DFNB3; MYO15 myosin XVA
TCMBANKGE001741 SHC3 N-Shc; NSHC; RAI; SHCC SHC adaptor protein 3
TCMBANKGE014085 PPP1R13L IASPP; NKIP1; RAI; RAI4 protein phosphatase 1 regulatory subunit 13 like