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疾病ID:TCMBANKDI000999
疾病名:Rothmund-Thomson syndrome
MeSH_Name:Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
HPO_Name:-
UMLS_Name:Disease or Syndrome
DO_Name:genetic disease; disease of anatomical entity
疾病类型:disease
DisGeNET_Link:C0032339
MeSH_Link:C16; C18; C17
HPO_Link:-
UMLS_Link:T047
DO_Link:DOID:630; 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 |
|---|
| TCMBANKGE013729 | OPN1LW | CBBM; CBP; COD5; RCP; ROP | opsin 1, long wave sensitive |
| TCMBANKGE003613 | FAM111B | CANP; POIKTMP | family with sequence similarity 111 member B |
| TCMBANKGE008946 | BLM | BS; MGRISCE1; RECQ2; RECQL2; RECQL3 | BLM RecQ like helicase |
| TCMBANKGE002980 | CHEK2 | CDS1; CHK2; HuCds1; LFS2; PP1425; RAD53; hCds1 | checkpoint kinase 2 |
| TCMBANKGE000670 | HDAC8 | CDA07; CDLS5; HD8; HDACL1; KDAC8; MRXS6; RPD3; WTS | histone deacetylase 8 |
| TCMBANKGE001136 | MECP2 | AUTSX3; MRX16; MRX79; MRXS13; MRXSL; PPMX; RS; RTS; RTT | methyl-CpG binding protein 2 |
| TCMBANKGE001074 | ATM | AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1 | ATM serine/threonine kinase |
| TCMBANKGE000166 | EP300 | KAT3B; MKHK2; RSTS2; p300 | E1A binding protein p300 |
| TCMBANKGE003132 | TMPRSS11D | ASP; HAT | transmembrane serine protease 11D |
| TCMBANKGE002022 | XRCC1 | RCC; SCAR26 | X-ray repair cross complementing 1 |
| TCMBANKGE000202 | RUNX2 | AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD; OSF-2; OSF2; PEA2aA; PEBP2aA | RUNX family transcription factor 2 |
| TCMBANKGE003746 | CREBBP | CBP; KAT3A; MKHK1; RSTS; RSTS1 | CREB binding protein |
| TCMBANKGE001202 | MAPK14 | CSBP; CSBP1; CSBP2; CSPB1; EXIP; Mxi2; PRKM14; PRKM15; RK; SAPK2A; p38; p38ALPHA | mitogen-activated protein kinase 14 |
| TCMBANKGE000940 | TERT | CMM9; DKCA2; DKCB4; EST2; PFBMFT1; TCS1; TP2; TRT; hEST2; hTRT | telomerase reverse transcriptase |
| TCMBANKGE011129 | GH1 | GH; GH-N; GHB5; GHN; IGHD1A; IGHD1B; IGHD2; hGH-N | growth hormone 1 |
| TCMBANKGE001154 | CREB1 | CREB; CREB-1 | cAMP responsive element binding protein 1 |
| TCMBANKGE013071 | CDC45 | CDC45L; CDC45L2; MGORS7; PORC-PI-1 | cell division cycle 45 |
| TCMBANKGE014174 | WRN | RECQ3; RECQL2; RECQL3 | WRN RecQ like helicase |
| TCMBANKGE008722 | APC | BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46 | APC regulator of WNT signaling pathway |
| TCMBANKGE010181 | ENOSF1 | FUCD; RTS; TYMSAS | enolase superfamily member 1 |
| TCMBANKGE000120 | PDK1 | - | pyruvate dehydrogenase kinase 1 |
| TCMBANKGE013777 | SLURP1 | ANUP; ARS; ArsB; LY6-MT; LY6LS; MDM | secreted LY6/PLAUR domain containing 1 |
| TCMBANKGE007627 | PAG1 | CBP; PAG | phosphoprotein membrane anchor with glycosphingolipid microdomains 1 |
| TCMBANKGE008466 | RECQL | RECQL1; RecQ1 | RecQ like helicase |
| TCMBANKGE011776 | EIF4E | AUTS19; CBP; EIF4E1; EIF4EL1; EIF4F; eIF-4E | eukaryotic translation initiation factor 4E |
| TCMBANKGE000355 | HFM1 | MER3; POF9; SEC63D1; Si-11; Si-11-6; helicase | helicase for meiosis 1 |
| TCMBANKGE011353 | GINS4 | SLD5 | GINS complex subunit 4 |
| TCMBANKGE000252 | PDE4A | DPDE2; PDE4; PDE46 | phosphodiesterase 4A |
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Dai SX Lab