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疾病ID:TCMBANKDI011264
疾病名:EAR, PATELLA, SHORT STATURE SYNDROME
MeSH_Name:Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
HPO_Name:-
UMLS_Name:Disease or Syndrome
DO_Name:genetic disease; syndrome
疾病类型:disease
DisGeNET_Link:C1868684
MeSH_Link:C23; C16; C05; C07; C09
HPO_Link:-
UMLS_Link:T047
DO_Link:DOID:630; DOID:225
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 |
|---|
| TCMBANKGE009389 | LYZ | LYZF1; LZM | lysozyme |
| TCMBANKGE002185 | BMP5 | - | bone morphogenetic protein 5 |
| TCMBANKGE001002 | SYT1 | BAGOS; P65; SVP65; SYT | synaptotagmin 1 |
| TCMBANKGE008011 | HTR2A | 5-HT2A; HTR2 | 5-hydroxytryptamine receptor 2A |
| TCMBANKGE000256 | PRKCA | AAG6; PKC-alpha; PKCA; PKCI+/-; PKCalpha; PRKACA | protein kinase C alpha |
| TCMBANKGE010781 | BRCA2 | BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD; FANCD1; GLM3; PNCA2; XRCC11 | BRCA2 DNA repair associated |
| TCMBANKGE000970 | FASN | FAS; OA-519; SDR27X1 | fatty acid synthase |
| TCMBANKGE014985 | PTH | FIH1; PTH1 | parathyroid hormone |
| TCMBANKGE012856 | ATXN3 | AT3; ATX3; JOS; MJD; MJD1; SCA3 | ataxin 3 |
| TCMBANKGE002980 | CHEK2 | CDS1; CHK2; HuCds1; LFS2; PP1425; RAD53; hCds1 | checkpoint kinase 2 |
| TCMBANKGE000756 | BSG | 5F7; CD147; EMMPRIN; EMPRIN; OK; SLC7A11; TCSF | basigin (Ok blood group) |
| TCMBANKGE010724 | GRIK3 | EAA5; GLR7; GLUR7; GluK3; GluR7a | glutamate ionotropic receptor kainate type subunit 3 |
| TCMBANKGE014769 | POSTN | OSF-2; OSF2; PDLPOSTN; PN | periostin |
| TCMBANKGE000205 | NOS2 | HEP-NOS; INOS; NOS; NOS2A | nitric oxide synthase 2 |
| TCMBANKGE004614 | ASPH | AAH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN; junctin | aspartate beta-hydroxylase |
| TCMBANKGE000298 | SOD1 | ALS; ALS1; HEL-S-44; IPOA; SOD; STAHP; hSod1; homodimer | superoxide dismutase 1 |
| TCMBANKGE001203 | MAPK1 | ERK; ERK-2; ERK2; ERT1; MAPK2; P42MAPK; PRKM1; PRKM2; p38; p40; p41; p41mapk; p42-MAPK | mitogen-activated protein kinase 1 |
| TCMBANKGE012155 | SLC6A3 | DAT; DAT1; PKDYS; PKDYS1 | solute carrier family 6 member 3 |
| TCMBANKGE000882 | SERPINE1 | PAI; PAI-1; PAI1; PLANH1 | serpin family E member 1 |
| TCMBANKGE010777 | DISC1 | C1orf136; SCZD9 | DISC1 scaffold protein |
| TCMBANKGE001184 | RELA | CMCU; NFKB3; p65 | RELA proto-oncogene, NF-kB subunit |
| TCMBANKGE008237 | MCM5 | CDC46; MGORS8; P1-CDC46 | minichromosome maintenance complex component 5 |
| TCMBANKGE013932 | CYP4F3 | CPF3; CYP4F; CYPIVF3; LTB4H | cytochrome P450 family 4 subfamily F member 3 |
| TCMBANKGE004879 | WNK1 | HSAN2; HSN2; KDP; PPP1R167; PRKWNK1; PSK; p65 | WNK lysine deficient protein kinase 1 |
| TCMBANKGE001153 | EPHB2 | BDPLT22; CAPB; DRT; EK5; EPHT3; ERK; Hek5; PCBC; Tyro5 | EPH receptor B2 |
| TCMBANKGE001755 | MAOB | - | monoamine oxidase B |
| TCMBANKGE000271 | APOE | AD2; APO-E; ApoE4; LDLCQ5; LPG | apolipoprotein E |
| TCMBANKGE010089 | CDT1 | DUP; RIS2 | chromatin licensing and DNA replication factor 1 |
| TCMBANKGE000842 | SLC18A2 | PKDYS2; SVAT; SVMT; VAT2; VMAT2 | solute carrier family 18 member A2 |
| TCMBANKGE002137 | PSEN1 | ACNINV3; AD3; FAD; PS-1; PS1; S182 | presenilin 1 |
| TCMBANKGE000999 | FOXM1 | FKHL16; FOXM1A; FOXM1B; FOXM1C; HFH-11; HFH11; HNF-3; INS-1; MPHOSPH2; MPP-2; MPP2; PIG29; TRIDENT | forkhead box M1 |
| TCMBANKGE001182 | SIRT1 | SIR2; SIR2L1; SIR2alpha | sirtuin 1 |
| TCMBANKGE007534 | PAEP | GD; GdA; GdF; GdS; PAEG; PEP; PP14; ZIF-1 | progestagen associated endometrial protein |
| TCMBANKGE000761 | FANCD2 | FA-D2; FA4; FACD; FAD; FAD2; FANCD | FA complementation group D2 |
| TCMBANKGE001106 | MTOR | FRAP; FRAP1; FRAP2; RAFT1; RAPT1; SKS | mechanistic target of rapamycin kinase |
| TCMBANKGE000959 | MYH9 | BDPLT6; DFNA17; EPSTS; FTNS; MATINS; MHA; NMHC-II-A; NMMHC-IIA; NMMHCA | myosin heavy chain 9 |
| TCMBANKGE013071 | CDC45 | CDC45L; CDC45L2; MGORS7; PORC-PI-1 | cell division cycle 45 |
| TCMBANKGE001158 | LEP | LEPD; OB; OBS | leptin |
| TCMBANKGE004371 | CD2 | LFA-2; SRBC; T11 | CD2 molecule |
| TCMBANKGE002159 | PDPN | AGGRUS; GP36; GP40; Gp38; HT1A-1; OTS8; PA2.26; T1A; T1A-2; T1A2; TI1A | podoplanin |
| TCMBANKGE012345 | DRD3 | D3DR; ETM1; FET1 | dopamine receptor D3 |
| TCMBANKGE000766 | ACHE | ACEE; ARACHE; N-ACHE; YT | acetylcholinesterase (Cartwright blood group) |
| TCMBANKGE014708 | CDC6 | CDC18L; HsCDC18; HsCDC6; MGORS5 | cell division cycle 6 |
| TCMBANKGE013391 | GMNN | Gem; MGORS6 | geminin DNA replication inhibitor |
| TCMBANKGE011521 | CLEC7A | BGR; CANDF4; CD369; CLECSF12; DECTIN1; SCARE2 | C-type lectin domain containing 7A |
| TCMBANKGE000109 | ACTB | BRWS1; PS1TP5BP1 | actin beta |
| TCMBANKGE009400 | GNAS | AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP; PITA3; POH; SCG6; SgVI | GNAS complex locus |
| TCMBANKGE009995 | ACTG1 | ACT; ACTG; DFNA20; DFNA26; HEL-176 | actin gamma 1 |
| TCMBANKGE011963 | RBP4 | MCOPCB10; RDCCAS | retinol binding protein 4 |
| TCMBANKGE010277 | CYP2D6 | CPD6; CYP2D; CYP2D7AP; CYP2D7BP; CYP2D7P2; CYP2D8P2; CYP2DL1; CYPIID6; P450-DB1; P450C2D; P450DB1 | cytochrome P450 family 2 subfamily D member 6 |
| TCMBANKGE003852 | LY6E | RIG-E; RIGE; SCA-2; SCA2; TSA-1 | lymphocyte antigen 6 family member E |
| TCMBANKGE003577 | PLA2G4A | GURDP; PLA2G4; cPLA2; cPLA2-alpha | phospholipase A2 group IVA |
| TCMBANKGE004022 | MCM2 | BM28; CCNL1; CDCL1; D3S3194; DFNA70; MITOTIN; cdc19 | minichromosome maintenance complex component 2 |
| TCMBANKGE007543 | INSR | CD220; HHF5 | insulin receptor |
| TCMBANKGE001096 | TLR4 | ARMD10; CD284; TLR-4; TOLL | toll like receptor 4 |
| TCMBANKGE001201 | MAPK3 | ERK-1; ERK1; ERT2; HS44KDAP; HUMKER1A; P44ERK1; P44MAPK; PRKM3; p44-ERK1; p44-MAPK | mitogen-activated protein kinase 3 |
| TCMBANKGE005927 | ORC1 | HSORC1; ORC1L; PARC1 | origin recognition complex subunit 1 |
| TCMBANKGE014932 | COMT | HEL-S-98n | catechol-O-methyltransferase |
| TCMBANKGE008895 | PRKACG | BDPLT19; KAPG; PKACg | protein kinase cAMP-activated catalytic subunit gamma |
| TCMBANKGE001341 | RGS2 | G0S8 | regulator of G protein signaling 2 |
| TCMBANKGE006122 | GORASP1 | GOLPH5; GRASP65; P65 | golgi reassembly stacking protein 1 |
| TCMBANKGE000869 | DRD2 | D2DR; D2R | dopamine receptor D2 |
| TCMBANKGE000306 | PIK3CG | PI3CG; PI3K; PI3Kgamma; PIK3; p110gamma; p120-PI3K | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma |
| TCMBANKGE006696 | PLCB1 | EIEE12; PI-PLC; PLC-154; PLC-I; PLC-beta-1; PLC154; PLCB1A; PLCB1B | phospholipase C beta 1 |
| TCMBANKGE003158 | ORC6 | ORC6L | origin recognition complex subunit 6 |
| TCMBANKGE000712 | COL1A1 | CAFYD; EDSARTH1; EDSC; OI1; OI2; OI3; OI4 | collagen type I alpha 1 chain |
| TCMBANKGE000335 | ITPR1 | ACV; CLA4; INSP3R1; IP3R; IP3R1; PPP1R94; SCA15; SCA16; SCA29 | inositol 1,4,5-trisphosphate receptor type 1 |
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Dai SX Lab