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疾病ID:TCMBANKDI005868


疾病名:Severe global developmental delay


MeSH_Name:-


HPO_Name:Abnormality of the nervous system


UMLS_Name:Finding


DO_Name:-


疾病类型:phenotype


DisGeNET_Link:C1837397


MeSH_Link:-


HPO_Link:HP:0000707


UMLS_Link:T033


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
TCMBANKGE003771 ADNP ADNP1; HVDAS; MRD28 activity dependent neuroprotector homeobox
TCMBANKGE013446 CYB5A CYB5; MCB5; METAG cytochrome b5 type A
TCMBANKGE015115 GEMIN4 HC56; HCAP1; HHRF-1; NEDMCR; p97 gem nuclear organelle associated protein 4
TCMBANKGE005115 FIG4 ALS11; BTOP; CMT4J; KIAA0274; SAC3; YVS; dJ249I4.1 FIG4 phosphoinositide 5-phosphatase
TCMBANKGE004139 DEGS1 DEGS; DEGS-1; DES1; Des-1; FADS7; HLD18; MIG15; MLD delta 4-desaturase, sphingolipid 1
TCMBANKGE000235 NTRK2 EIEE58; GP145-TrkB; OBHD; TRKB; trk-B neurotrophic receptor tyrosine kinase 2
TCMBANKGE002581 PROP1 CPHD2; PROP-1 PROP paired-like homeobox 1
TCMBANKGE011715 PEX3 PBD10A; PBD10B; TRG18 peroxisomal biogenesis factor 3
TCMBANKGE002746 PIGN MCAHS; MCAHS1; MCD4; MDC4; PIG-N phosphatidylinositol glycan anchor biosynthesis class N
TCMBANKGE004670 CYB5R3 B5R; DIA1 cytochrome b5 reductase 3
TCMBANKGE008146 NCAPH2 CAPH2 non-SMC condensin II complex subunit H2
TCMBANKGE014606 ERCC5 COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC ERCC excision repair 5, endonuclease
TCMBANKGE009922 GABRG2 CAE2; ECA2; EIEE74; FEB8; GEFSP3 gamma-aminobutyric acid type A receptor subunit gamma2
TCMBANKGE013762 ERCC6 ARMD5; CKN2; COFS; COFS1; CSB; CSB-PGBD3; POF11; RAD26; UVSS1 ERCC excision repair 6, chromatin remodeling factor
TCMBANKGE010199 ARID1B 6A3-5; BAF250B; BRIGHT; CSS1; DAN15; ELD/OSA1; MRD12; OSA2; P250R AT-rich interaction domain 1B
TCMBANKGE014109 ADK AK adenosine kinase
TCMBANKGE005209 PHGDH 3-PGDH; 3PGDH; HEL-S-113; NLS; NLS1; PDG; PGAD; PGD; PGDH; PHGDHD; SERA phosphoglycerate dehydrogenase
TCMBANKGE005585 PEX6 HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1 peroxisomal biogenesis factor 6
TCMBANKGE001136 MECP2 AUTSX3; MRX16; MRX79; MRXS13; MRXSL; PPMX; RS; RTS; RTT methyl-CpG binding protein 2
TCMBANKGE004052 CCDC47 GK001; MSTP041; THNS coiled-coil domain containing 47
TCMBANKGE013857 PMPCA Alpha-MPP; CLA1; CPD3; INPP5E; P-55; SCAR2 peptidase, mitochondrial processing subunit alpha
TCMBANKGE005993 POGZ MRD37; WHSUS; ZNF280E; ZNF635; ZNF635m pogo transposable element derived with ZNF domain
TCMBANKGE008559 GJB2 BAPS; CX26; DFNA3; DFNA3A; DFNB1; DFNB1A; HID; KID; NSRD1; PPK gap junction protein beta 2
TCMBANKGE001075 TXN2 COXPD29; MT-TRX; MTRX; TRX2; TXN thioredoxin 2
TCMBANKGE000275 STXBP1 MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1; UNC18; unc-18A; unc18-1 syntaxin binding protein 1
TCMBANKGE012980 PIGG GPI7; LAS21; MRT53; PRO4405; RLGS1930 phosphatidylinositol glycan anchor biosynthesis class G
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-)
TCMBANKGE007901 KIF15 HKLP2; KLP2; KNSL7; NY-BR-62 kinesin family member 15
TCMBANKGE007668 EIF2S3 EIF2; EIF2G; EIF2gamma; MEHMO; MRXSBRK; eIF-2gA eukaryotic translation initiation factor 2 subunit gamma
TCMBANKGE001532 ERCC1 COFS4; RAD10; UV20 ERCC excision repair 1, endonuclease non-catalytic subunit
TCMBANKGE003382 ZNF335 MCPH10; NIF-1; NIF1; NIF2 zinc finger protein 335
TCMBANKGE002916 STAMBP AMSH; MICCAP STAM binding protein
TCMBANKGE013868 DYM DMC; SMC dymeclin
TCMBANKGE010427 PGAP3 AGLA546; CAB2; PERLD1; PP1498; hCOS16 post-GPI attachment to proteins phospholipase 3
TCMBANKGE001091 ND5 MTND5 NADH dehydrogenase, subunit 5 (complex I)
TCMBANKGE000346 RPS6KA3 CLS; HU-3; ISPK-1; MAPKAPK1B; MRX19; RSK; RSK2; S6K-alpha3; p90-RSK2; pp90RSK2 ribosomal protein S6 kinase A3
TCMBANKGE004866 BUB1B BUB1beta; BUBR1; Bub1A; MAD3L; MVA1; SSK1; hBUBR1 BUB1 mitotic checkpoint serine/threonine kinase B
TCMBANKGE010631 TUBB3 CDCBM; CDCBM1; CFEOM3; CFEOM3A; FEOM3; TUBB4; beta-4 tubulin beta 3 class III
TCMBANKGE012242 ALG1 CDG1K; HMAT1; HMT-1; HMT1; MT-1; Mat-1; hMat-1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
TCMBANKGE011358 TUBB2A CDCBM5; TUBB; TUBB2 tubulin beta 2A class IIa
TCMBANKGE002043 CTNND2 GT24; NPRAP catenin delta 2
TCMBANKGE001106 MTOR FRAP; FRAP1; FRAP2; RAFT1; RAPT1; SKS mechanistic target of rapamycin kinase
TCMBANKGE007939 PEX2 PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3; RNF72; ZWS3 peroxisomal biogenesis factor 2
TCMBANKGE002798 GAMT CCDS2; HEL-S-20; PIG2; TP53I2 guanidinoacetate N-methyltransferase
TCMBANKGE001947 PEX13 NALD; PBD11A; PBD11B; ZWS peroxisomal biogenesis factor 13
TCMBANKGE004855 PEX16 PBD8A; PBD8B peroxisomal biogenesis factor 16
TCMBANKGE006691 FGFR3 ACH; CD333; CEK2; HSFGFR3EX; JTK4 fibroblast growth factor receptor 3
TCMBANKGE013958 RAB3GAP2 RAB3-GAP150; RAB3GAP150; SPG69; WARBM2; p150 RAB3 GTPase activating non-catalytic protein subunit 2
TCMBANKGE014848 SLC9A6 MRSA; NHE6 solute carrier family 9 member A6
TCMBANKGE003496 ATP6 ATPase6; MTATP6 ATP synthase F0 subunit 6
TCMBANKGE001705 DYNC1I2 DIC74; DNCI2; IC2; NEDMIBA dynein cytoplasmic 1 intermediate chain 2
TCMBANKGE009579 OTUD6B CGI-77; DUBA-5; DUBA5; IDDFSDA OTU deubiquitinase 6B
TCMBANKGE001465 AIMP1 EMAP2; EMAPII; HLD3; SCYE1; p43 aminoacyl tRNA synthetase complex interacting multifunctional protein 1
TCMBANKGE000407 DYRK1A DYRK; DYRK1; HP86; MNB; MNBH; MRD7 dual specificity tyrosine phosphorylation regulated kinase 1A
TCMBANKGE011246 DPM1 CDGIE; MPDS dolichyl-phosphate mannosyltransferase subunit 1, catalytic
TCMBANKGE002680 SCO2 CEMCOX1; ECGF1; Gliostatin; MYP6; PD-ECGF; SCO1L; TP; TYMP; TdRPase synthesis of cytochrome C oxidase 2
TCMBANKGE011497 SOX5 L-SOX5; L-SOX5B; L-SOX5F; LAMSHF SRY-box transcription factor 5
TCMBANKGE007807 ARX CT121; EIEE1; ISSX; MRX29; MRX32; MRX33; MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS aristaless related homeobox
TCMBANKGE000361 ERCC2 COFS2; EM9; TFIIH; TTD; TTD1; XPD ERCC excision repair 2, TFIIH core complex helicase subunit
TCMBANKGE013569 GNPTAB GNPTA; ICD N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
TCMBANKGE012988 PEX1 HMLR1; PBD1A; PBD1B; ZWS; ZWS1 peroxisomal biogenesis factor 1
TCMBANKGE005639 PEX5 PBD2A; PBD2B; PTS1-BP; PTS1R; PXR1; RCDP5 peroxisomal biogenesis factor 5
TCMBANKGE005632 PEX14 NAPP2; PBD13A; Pex14p; dJ734G22.2 peroxisomal biogenesis factor 14
TCMBANKGE002431 ARID1A B120; BAF250; BAF250a; BM029; C1orf4; CSS2; ELD; MRD14; OSA1; P270; SMARCF1; hELD; hOSA1 AT-rich interaction domain 1A
TCMBANKGE013764 LAMB1 CLM; LIS5 laminin subunit beta 1
TCMBANKGE004279 SEMA5A SEMAF; semF semaphorin 5A
TCMBANKGE004708 SLC25A19 DNC; MCPHA; MUP1; THMD3; THMD4; TPC solute carrier family 25 member 19
TCMBANKGE000524 CNTNAP2 AUTS15; CASPR2; CDFE; NRXN4; PTHSL1 contactin associated protein 2
TCMBANKGE004273 CSTB CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD cystatin B
TCMBANKGE008269 TUBA8 CDCBM8; TUBAL2 tubulin alpha 8
TCMBANKGE010219 KCTD3 NY-REN-45 potassium channel tetramerization domain containing 3
TCMBANKGE014368 HESX1 ANF; CPHD5; RPX HESX homeobox 1
TCMBANKGE000899 GLI2 CJS; HPE9; PHS2; THP1; THP2 GLI family zinc finger 2
TCMBANKGE008714 ACO2 ACONM; HEL-S-284; ICRD; OCA8; OPA9 aconitase 2
TCMBANKGE014133 ADSL AMPS; ASASE; ASL adenylosuccinate lyase
TCMBANKGE011279 NRXN1 Hs.22998; PTHSL2; SCZD17 neurexin 1
TCMBANKGE013790 BPTF FAC1; FALZ; NEDDFL; NURF301 bromodomain PHD finger transcription factor
TCMBANKGE014861 TMEM186 C16orf51 transmembrane protein 186
TCMBANKGE001093 ND2 MTND2 MTND2
TCMBANKGE005300 PLOD1 EDS6; EDSKCL1; LH; LH1; LLH; PLOD procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
TCMBANKGE012196 ATRX JMS; MRX52; RAD54; RAD54L; XH2; XNP; ZNF-HX ATRX chromatin remodeler
TCMBANKGE009188 COG8 CDG2H; DOR1 component of oligomeric golgi complex 8
TCMBANKGE010186 RARB HAP; MCOPS12; NR1B2; RARbeta1; RRB2 retinoic acid receptor beta
TCMBANKGE014656 ABAT GABA-AT; GABAT; NPD009 4-aminobutyrate aminotransferase
TCMBANKGE013744 RALGAPB KIAA1219; RalGAPbeta Ral GTPase activating protein non-catalytic subunit beta
TCMBANKGE012096 NIN SCKL7 ninein
TCMBANKGE014290 FBXL4 FBL4; FBL5; MTDPS13 F-box and leucine rich repeat protein 4
TCMBANKGE002114 SEPSECS LP; PCH2D; SLA; SLA/LP Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
TCMBANKGE011729 RNASEH2A AGS4; JUNB; RNASEHI; RNHIA; RNHL; THSD8 ribonuclease H2 subunit A
TCMBANKGE012245 ACOX1 ACOX; PALMCOX; SCOX acyl-CoA oxidase 1
TCMBANKGE007948 CASK CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8; hCASK calcium/calmodulin dependent serine protein kinase
TCMBANKGE005253 ARNT2 WEDAS; bHLHe1 aryl hydrocarbon receptor nuclear translocator 2
TCMBANKGE005110 GLUL GLNS; GS; PIG43; PIG59 glutamate-ammonia ligase