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疾病ID:TCMBANKDI023626

疾病名:Angelman Syndrome

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

HPO_Name:-

UMLS_Name:Disease or Syndrome

DO_Name:genetic disease

疾病类型:disease

DisGeNET_Link:C0162635

MeSH_Link:C16; C10

HPO_Link:-

UMLS_Link:T047

DO_Link:DOID:630

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
TCMBANKIN000052 cannabidiol abn-cbd, (-)-4-(3-3,4-trans-p-menthadien-[1,8]-yl)olivetol; SCHEMBL16224872 C21H30O2 314.5 g/mol CCCCCC1=CC(=C(C(=C1)O)C2C=C(CCC2C(=C)C)C)O
   疾病对应的靶点
靶点ID 基因名 基因别名 描述
TCMBANKGE009841 PSMD4 AF; AF-1; ASF; MCB1; Rpn10; S5A; pUB-R5 proteasome 26S subunit, non-ATPase 4
TCMBANKGE006364 SLC6A1 GABATHG; GABATR; GAT1; MAE solute carrier family 6 member 1
TCMBANKGE000362 DNAH8 ATPase; hdhc9 dynein axonemal heavy chain 8
TCMBANKGE006620 MAFK NFE2U; P18 MAF bZIP transcription factor K
TCMBANKGE001022 TJP1 ZO-1 tight junction protein 1
TCMBANKGE000440 HDAC1 GON-10; HD1; KDAC1; RPD3; RPD3L1 histone deacetylase 1
TCMBANKGE001136 MECP2 AUTSX3; MRX16; MRX79; MRXS13; MRXSL; PPMX; RS; RTS; RTT methyl-CpG binding protein 2
TCMBANKGE013528 DERL1 DER-1; DER1; derlin-1 derlin 1
TCMBANKGE000396 TOP1 TOPI DNA topoisomerase I
TCMBANKGE000406 CDKL5 CFAP247; EIEE2; ISSX; STK9 cyclin dependent kinase like 5
TCMBANKGE004021 FMR1 FMRP; FRAXA; POF; POF1 FMRP translational regulator 1
TCMBANKGE007464 UBE2I C358B7.1; P18; UBC9 ubiquitin conjugating enzyme E2 I
TCMBANKGE012155 SLC6A3 DAT; DAT1; PKDYS; PKDYS1 solute carrier family 6 member 3
TCMBANKGE000201 ESR1 ER; ESR; ESRA; ESTRR; Era; NR3A1 estrogen receptor 1
TCMBANKGE000166 EP300 KAT3B; MKHK2; RSTS2; p300 E1A binding protein p300
TCMBANKGE011085 MEF2C C5DELq14.3; DEL5q14.3 myocyte enhancer factor 2C
TCMBANKGE009896 EEF1E1 AIMP3; P18 eukaryotic translation elongation factor 1 epsilon 1
TCMBANKGE011626 TPPP2 C14orf8; CT152; P18; p25beta tubulin polymerization promoting protein family member 2
TCMBANKGE004453 KCNQ3 BFNC2; EBN2; KV7.3 potassium voltage-gated channel subfamily Q member 3
TCMBANKGE011152 HERC1 MDFPMR; p532; p619 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
TCMBANKGE013121 ATP10A ATP10C; ATPVA; ATPVC ATPase phospholipid transporting 10A (putative)
TCMBANKGE007141 MTHFR - methylenetetrahydrofolate reductase
TCMBANKGE013868 DYM DMC; SMC dymeclin
TCMBANKGE000800 GABRB3 ECA5; EIEE43 gamma-aminobutyric acid type A receptor subunit beta3
TCMBANKGE003746 CREBBP CBP; KAT3A; MKHK1; RSTS; RSTS1 CREB binding protein
TCMBANKGE003185 HERC2 D15F37S1; MRT38; SHEP1; jdf2; p528 HECT and RLD domain containing E3 ubiquitin protein ligase 2
TCMBANKGE000436 ERBB4 ALS19; HER4; p180erbB4 erb-b2 receptor tyrosine kinase 4
TCMBANKGE013306 NPAS3 MOP6; PASD6; bHLHe12 neuronal PAS domain protein 3
TCMBANKGE014912 SCG5 7B2; P7B2; SGNE1; SgV secretogranin V
TCMBANKGE010279 UBE2K E2-25K; HIP2; HYPG; LIG; UBC1 ubiquitin conjugating enzyme E2 K
TCMBANKGE008692 UROD PCT; UPD uroporphyrinogen decarboxylase
TCMBANKGE014848 SLC9A6 MRSA; NHE6 solute carrier family 9 member A6
TCMBANKGE012378 MUL1 C1orf166; GIDE; MAPL; MULAN; RNF218 mitochondrial E3 ubiquitin protein ligase 1
TCMBANKGE002762 OCA2 BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2; EYCL3; HCL3; P; PED; SHEP1 OCA2 melanosomal transmembrane protein
TCMBANKGE000835 APP AAA; ABETA; ABPP; AD1; APPI; CTFgamma; CVAP; PN-II; PN2; preA4 amyloid beta precursor protein
TCMBANKGE000109 ACTB BRWS1; PS1TP5BP1 actin beta
TCMBANKGE000407 DYRK1A DYRK; DYRK1; HP86; MNB; MNBH; MRD7 dual specificity tyrosine phosphorylation regulated kinase 1A
TCMBANKGE009097 TMPRSS13 MSP; MSPL; MSPS; TMPRSS11 transmembrane serine protease 13
TCMBANKGE000022 CAMK2A CAMKA; CaMKIINalpha; CaMKIIalpha; MRD53; MRT63 calcium/calmodulin dependent protein kinase II alpha
TCMBANKGE001647 PVALB D22S749 parvalbumin
TCMBANKGE000661 HDAC2 HD2; KDAC2; RPD3; YAF1 histone deacetylase 2
TCMBANKGE004325 NR4A2 HZF-3; NOT; NURR1; RNR1; TINUR nuclear receptor subfamily 4 group A member 2
TCMBANKGE008270 MST1 D3F15S2; DNF15S2; HGFL; MSP; NF15S2 macrophage stimulating 1
TCMBANKGE003773 EPHA6 EHK-2; EHK2; EK12; EPA6; HEK12; PRO57066 EPH receptor A6
TCMBANKGE002218 GABRG3 - gamma-aminobutyric acid type A receptor subunit gamma3
TCMBANKGE012423 PRNP ASCR; AltPrP; CD230; CJD; GSS; KURU; PRIP; PrP; PrP27-30; PrP33-35C; PrPc; p27-30 prion protein
TCMBANKGE007850 CFL1 CFL; HEL-S-15; cofilin cofilin 1
TCMBANKGE004917 GABRA5 EIEE79 gamma-aminobutyric acid type A receptor subunit alpha5
TCMBANKGE014489 CYP11A1 CYP11A; CYPXIA1; P450SCC cytochrome P450 family 11 subfamily A member 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
TCMBANKGE005805 MC1R CMM5; MSH-R; SHEP2 melanocortin 1 receptor
TCMBANKGE000801 HTR1A 5-HT-1A; 5-HT1A; 5HT1a; ADRB2RL1; ADRBRL1; G-21; PFMCD 5-hydroxytryptamine receptor 1A
TCMBANKGE004854 RNF2 BAP-1; BAP1; DING; HIPI3; RING1B; RING2 ring finger protein 2
TCMBANKGE013902 HDAC9 HD7; HD7b; HD9; HDAC; HDAC7; HDAC7B; HDAC9B; HDAC9FL; HDRP; MITR histone deacetylase 9
TCMBANKGE002636 ASPM ASP; Calmbp1; MCPH5 assembly factor for spindle microtubules
TCMBANKGE003452 UBE3A ANCR; AS; E6-AP; EPVE6AP; HPVE6A ubiquitin protein ligase E3A
TCMBANKGE010465 ATP8A1 ATPASEII; ATPIA; ATPP2 ATPase phospholipid transporting 8A1
TCMBANKGE008048 SLC5A7 CHT; CHT1; CMS20; HMN7A solute carrier family 5 member 7
TCMBANKGE006509 CYP26B1 CYP26A2; P450RAI-2; P450RAI2; RHFCA cytochrome P450 family 26 subfamily B member 1
TCMBANKGE007580 ZNF197 D3S1363E; P18; VHLaK; ZKSCAN9; ZNF166; ZNF20; ZSCAN41 zinc finger protein 197
TCMBANKGE000236 BDNF ANON2; BULN2 brain derived neurotrophic factor
TCMBANKGE007832 COPS2 ALIEN; CSN2; SGN2; TRIP15 COP9 signalosome subunit 2
TCMBANKGE010848 PAFAH1B1 LIS1; LIS2; MDCR; MDS; NudF; PAFAH platelet activating factor acetylhydrolase 1b regulatory subunit 1
TCMBANKGE014904 DBI ACBD1; ACBP; CCK-RP; EP diazepam binding inhibitor, acyl-CoA binding protein
TCMBANKGE008463 CDKN2C INK4C; p18; p18-INK4C cyclin dependent kinase inhibitor 2C
TCMBANKGE007948 CASK CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8; hCASK calcium/calmodulin dependent serine protein kinase

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