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疾病ID:TCMBANKDI027669


疾病名:Isolated cases


MeSH_Name:-


HPO_Name:-


UMLS_Name:Finding


DO_Name:-


疾病类型:phenotype


DisGeNET_Link:C1853237


MeSH_Link:-


HPO_Link:-


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
TCMBANKGE001111 KIT C-Kit; CD117; MASTC; PBT; SCFR KIT proto-oncogene, receptor tyrosine kinase
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
TCMBANKGE011145 NSD1 ARA267; KMT3B; SOTOS; SOTOS1; STO nuclear receptor binding SET domain protein 1
TCMBANKGE014455 RAI1 SMCR; SMS retinoic acid induced 1
TCMBANKGE000447 TSC2 LAM; PPP1R160; TSC4 TSC complex subunit 2
TCMBANKGE009869 GNAQ CMC1; G-ALPHA-q; GAQ; SWS G protein subunit alpha q
TCMBANKGE014034 TOE1 PCH7; hCaf1z target of EGR1, exonuclease
TCMBANKGE001136 MECP2 AUTSX3; MRX16; MRX79; MRXS13; MRXSL; PPMX; RS; RTS; RTT methyl-CpG binding protein 2
TCMBANKGE000047 AKT1 AKT; CWS6; PKB; PKB-ALPHA; PRKBA; RAC; RAC-ALPHA AKT serine/threonine kinase 1
TCMBANKGE009255 COQ2 CL640; COQ10D1; MSA1; PHB:PPT coenzyme Q2, polyprenyltransferase
TCMBANKGE013892 TSHR CHNG1; LGR3; hTSHR-I thyroid stimulating hormone receptor
TCMBANKGE012190 STX16 SYN16 syntaxin 16
TCMBANKGE004355 EHMT1 EHMT1-IT1; EUHMTASE1; Eu-HMTase1; FP13812; GLP; GLP1; KLEFS1; KMT1D euchromatic histone lysine methyltransferase 1
TCMBANKGE001110 OGG1 HMMH; HOGG1; MUTM; OGH1 8-oxoguanine DNA glycosylase
TCMBANKGE011851 SEMA3E M-SEMAH; M-SemaK; SEMAH; coll-5 semaphorin 3E
TCMBANKGE000166 EP300 KAT3B; MKHK2; RSTS2; p300 E1A binding protein p300
TCMBANKGE011085 MEF2C C5DELq14.3; DEL5q14.3 myocyte enhancer factor 2C
TCMBANKGE004949 NLGN3 HNL3 neuroligin 3
TCMBANKGE006438 PCSK1 BMIQ12; NEC1; PC1; PC3; SPC3 proprotein convertase subtilisin/kexin type 1
TCMBANKGE013826 DRD5 DBDR; DRD1B; DRD1L2 dopamine receptor D5
TCMBANKGE005145 SDHC CYB560; CYBL; PGL3; QPS1; SDH3 succinate dehydrogenase complex subunit C
TCMBANKGE013566 GLUD2 GDH2; GLUDP1 glutamate dehydrogenase 2
TCMBANKGE000334 GATA1 ERYF1; GATA-1; GF-1; GF1; NF-E1; NFE1; XLANP; XLTDA; XLTT GATA binding protein 1
TCMBANKGE003974 FGFRL1 FGFR-5; FGFR5; FHFR fibroblast growth factor receptor like 1
TCMBANKGE000443 TBP GTF2D; GTF2D1; HDL4; SCA17; TFIID TATA-box binding protein
TCMBANKGE000017 MAPT DDPAC; FTDP-17; MAPTL; MSTD; MTBT1; MTBT2; PPND; PPP1R103; TAU microtubule associated protein tau
TCMBANKGE008465 NIPBL CDLS; CDLS1; IDN3; IDN3-B; Scc2 NIPBL cohesin loading factor
TCMBANKGE002137 PSEN1 ACNINV3; AD3; FAD; PS-1; PS1; S182 presenilin 1
TCMBANKGE000898 MYC MRTL; MYCC; bHLHe39; c-Myc MYC proto-oncogene, bHLH transcription factor
TCMBANKGE013050 LETM1 SLC55A1 leucine zipper and EF-hand containing transmembrane protein 1
TCMBANKGE003746 CREBBP CBP; KAT3A; MKHK1; RSTS; RSTS1 CREB binding protein
TCMBANKGE000297 JAK2 JTK10; THCYT3 Janus kinase 2
TCMBANKGE007385 NRAS ALPS4; CMNS; N-ras; NCMS; NRAS1; NS6 NRAS proto-oncogene, GTPase
TCMBANKGE000346 RPS6KA3 CLS; HU-3; ISPK-1; MAPKAPK1B; MRX19; RSK; RSK2; S6K-alpha3; p90-RSK2; pp90RSK2 ribosomal protein S6 kinase A3
TCMBANKGE003185 HERC2 D15F37S1; MRT38; SHEP1; jdf2; p528 HECT and RLD domain containing E3 ubiquitin protein ligase 2
TCMBANKGE003770 KIF1B CMT2; CMT2A; CMT2A1; HMSNII; KLP; NBLST1 kinesin family member 1B
TCMBANKGE007048 TINF2 DKCA3; TIN2 TERF1 interacting nuclear factor 2
TCMBANKGE009951 CACNA1S CACNL1A3; CCHL1A3; Cav1.1; HOKPP; HOKPP1; MHS5; TTPP1; hypoPP calcium voltage-gated channel subunit alpha1 S
TCMBANKGE001524 SKI SGS; SKV SKI proto-oncogene
TCMBANKGE001106 MTOR FRAP; FRAP1; FRAP2; RAFT1; RAPT1; SKS mechanistic target of rapamycin kinase
TCMBANKGE007487 VHL HRCA1; RCA1; VHL1; pVHL von Hippel-Lindau tumor suppressor
TCMBANKGE002136 GBA GBA1; GCB; GLUC glucosylceramidase beta
TCMBANKGE006691 FGFR3 ACH; CD333; CEK2; HSFGFR3EX; JTK4 fibroblast growth factor receptor 3
TCMBANKGE000076 RPS14 EMTB; S14 ribosomal protein S14
TCMBANKGE004041 SPECC1L CYTSA; GBBB2; OBLFC1; TBHS sperm antigen with calponin homology and coiled-coil domains 1 like
TCMBANKGE001199 PDGFRA CD140A; PDGFR-2; PDGFR2 platelet derived growth factor receptor alpha
TCMBANKGE010789 HNF1A HNF-1A; HNF1; HNF4A; IDDM20; LFB1; MODY3; TCF-1; TCF1 HNF1 homeobox A
TCMBANKGE002240 FLNB ABP-278; ABP-280; AOI; FH1; FLN-B; FLN1L; LRS1; SCT; TABP; TAP filamin B
TCMBANKGE008442 NFIX CTF; MRSHSS; NF-I/X; NF1-X; NF1A; SOTOS2 nuclear factor I X
TCMBANKGE000111 BCL10 CARMEN; CIPER; CLAP; IMD37; c-E10; mE10 BCL10 immune signaling adaptor
TCMBANKGE006981 SIN3A WITKOS SIN3 transcription regulator family member A
TCMBANKGE003855 ZBTB20 DPZF; HOF; ODA-8S; PRIMS; ZNF288 zinc finger and BTB domain containing 20
TCMBANKGE009400 GNAS AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP; PITA3; POH; SCG6; SgVI GNAS complex locus
TCMBANKGE004812 RNF139 HRCA1; RCA1; TRC8 ring finger protein 139
TCMBANKGE001413 TUBB4A DYT4; TUBB4; beta-5 tubulin beta 4A class IVa
TCMBANKGE002584 CHD7 CRG; HH5; IS3; KAL5 chromodomain helicase DNA binding protein 7
TCMBANKGE013113 NLGN4X ASPGX2; AUTSX2; HLNX; HNL4X; NLGN4 neuroligin 4 X-linked
TCMBANKGE004325 NR4A2 HZF-3; NOT; NURR1; RNR1; TINUR nuclear receptor subfamily 4 group A member 2
TCMBANKGE009742 HLA-DRB1 DRB1; HLA-DR1B; HLA-DRB; SS1 major histocompatibility complex, class II, DR beta 1
TCMBANKGE012517 FLCN BHD; DENND8B; FLCL folliculin
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
TCMBANKGE015037 TSC1 LAM; TSC TSC complex subunit 1
TCMBANKGE001000 SNCAIP SYPH1; Sph1 synuclein alpha interacting protein
TCMBANKGE000637 SDHB CWS2; IP; PGL4; SDH; SDH1; SDH2; SDHIP succinate dehydrogenase complex iron sulfur subunit B
TCMBANKGE000899 GLI2 CJS; HPE9; PHS2; THP1; THP2 GLI family zinc finger 2
TCMBANKGE003655 PTDSS1 LMHD; PSS1; PSSA phosphatidylserine synthase 1
TCMBANKGE014200 CPLX1 CPX-I; CPX1; EIEE63 complexin 1
TCMBANKGE000186 IGF2 C11orf43; GRDF; IGF-II; PP9974 insulin like growth factor 2
TCMBANKGE010843 ALDH18A1 ADCL3; ARCL3A; GSAS; P5CS; PYCS; SPG9; SPG9A; SPG9B aldehyde dehydrogenase 18 family member A1
TCMBANKGE000387 CTBP1 BARS; HADDTS C-terminal binding protein 1
TCMBANKGE001027 STK11 LKB1; PJS; hLKB1 serine/threonine kinase 11
TCMBANKGE003452 UBE3A ANCR; AS; E6-AP; EPVE6AP; HPVE6A ubiquitin protein ligase E3A
TCMBANKGE002973 NFIA BRMUTD; CTF; NF-I/A; NF1-A; NFI-A; NFI-L nuclear factor I A
TCMBANKGE006028 ALX3 FND; FND1 ALX homeobox 3
TCMBANKGE000411 IRF6 LPS; OFC6; PIT; PPS; PPS1; VWS; VWS1 interferon regulatory factor 6
TCMBANKGE000824 RB1 OSRC; PPP1R130; RB; p105-Rb; p110-RB1; pRb; pp110 RB transcriptional corepressor 1
TCMBANKGE000650 SUMO1 DAP1; GMP1; OFC10; PIC1; SENP2; SMT3; SMT3C; SMT3H3; UBL1 small ubiquitin like modifier 1
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
TCMBANKGE006410 ACAT2 - acetyl-CoA acetyltransferase 2