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疾病ID:TCMBANKDI032191
疾病名:Bardet-Biedl Syndrome
MeSH_Name:Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
HPO_Name:-
UMLS_Name:Disease or Syndrome
DO_Name:genetic disease; disease of anatomical entity
疾病类型:disease
DisGeNET_Link:C0752166
MeSH_Link:C16; C11; C10
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 |
|---|
| TCMBANKGE008767 | TRAPPC3 | BET3 | trafficking protein particle complex 3 |
| TCMBANKGE014583 | RTEL1 | C20orf41; DKCA4; DKCB5; NHL; PFBMFT3; RTEL | regulator of telomere elongation helicase 1 |
| TCMBANKGE000562 | IL18 | IGIF; IL-18; IL-1g; IL1F4 | interleukin 18 |
| TCMBANKGE007247 | BBS10 | C12orf58 | Bardet-Biedl syndrome 10 |
| TCMBANKGE006104 | SULT1A3 | HAST; HAST3; M-PST; ST1A3; ST1A3/ST1A4; ST1A4; ST1A5; STM; TL-PST | sulfotransferase family 1A member 3 |
| TCMBANKGE010390 | KIF2A | CDCBM3; HK2; KIF2 | kinesin family member 2A |
| TCMBANKGE008421 | STUB1 | CHIP; HSPABP2; NY-CO-7; SCA48; SCAR16; SDCCAG7; UBOX1 | STIP1 homology and U-box containing protein 1 |
| TCMBANKGE010957 | CEP164 | NPHP15 | centrosomal protein 164 |
| TCMBANKGE005031 | RIN2 | MACS; RASSF4 | Ras and Rab interactor 2 |
| TCMBANKGE012438 | NPY2R | NPY2-R | neuropeptide Y receptor Y2 |
| TCMBANKGE004981 | PCM1 | PTC4; RET/PCM-1 | pericentriolar material 1 |
| TCMBANKGE000230 | ADIPOQ | ACDC; ACRP30; ADIPQTL1; ADPN; APM-1; APM1; GBP28 | adiponectin, C1Q and collagen domain containing |
| TCMBANKGE014906 | ASTN2 | bA67K19.1 | astrotactin 2 |
| TCMBANKGE015148 | PLLP | PMLP; TM4SF11 | plasmolipin |
| TCMBANKGE003661 | ALMS1 | ALSS | ALMS1 centrosome and basal body associated protein |
| TCMBANKGE007004 | MYO9A | CMS24 | myosin IXA |
| TCMBANKGE006865 | GLIS2 | NKL; NPHP7 | GLIS family zinc finger 2 |
| TCMBANKGE012594 | RHO | CSNBAD1; OPN2; RP4 | rhodopsin |
| TCMBANKGE000461 | RCVRN | RCV1 | recoverin |
| TCMBANKGE006565 | NPY | PYY4 | neuropeptide Y |
| TCMBANKGE009726 | ERG | erg-3; p55 | ETS transcription factor ERG |
| TCMBANKGE005641 | TRIM32 | BBS11; HT2A; LGMD2H; LGMDR8; TATIP | tripartite motif containing 32 |
| TCMBANKGE000613 | CEP290 | 3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4; NPHP6; POC3; SLSN6; rd16 | centrosomal protein 290 |
| TCMBANKGE004761 | ARL6 | BBS3; RP55 | ADP ribosylation factor like GTPase 6 |
| TCMBANKGE001687 | PDE6B | CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; RP40; rd1 | phosphodiesterase 6B |
| TCMBANKGE001158 | LEP | LEPD; OB; OBS | leptin |
| TCMBANKGE000532 | PECAM1 | CD31; CD31/EndoCAM; GPIIA'; PECA1; PECAM-1; endoCAM | platelet and endothelial cell adhesion molecule 1 |
| TCMBANKGE001277 | IFT172 | BBS20; NPHP17; RP71; SLB; SRTD10; osm-1; wim | intraflagellar transport 172 |
| TCMBANKGE014907 | FEZ1 | UNC-76 | fasciculation and elongation protein zeta 1 |
| TCMBANKGE003611 | WDPCP | BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ; FRTZ | WD repeat containing planar cell polarity effector |
| TCMBANKGE000681 | TNFRSF11B | OCIF; OPG; PDB5; TR1 | TNF receptor superfamily member 11b |
| TCMBANKGE006599 | USP35 | - | ubiquitin specific peptidase 35 |
| TCMBANKGE010353 | BBS4 | - | Bardet-Biedl syndrome 4 |
| TCMBANKGE002552 | BBS2 | BBS; RP74 | Bardet-Biedl syndrome 2 |
| TCMBANKGE012378 | MUL1 | C1orf166; GIDE; MAPL; MULAN; RNF218 | mitochondrial E3 ubiquitin protein ligase 1 |
| TCMBANKGE000934 | GFAP | ALXDRD | glial fibrillary acidic protein |
| TCMBANKGE006529 | INPP5E | CORS1; CPD4; JBTS1; MORMS; PPI5PIV; pharbin | inositol polyphosphate-5-phosphatase E |
| TCMBANKGE012593 | IFT74 | CCDC2; CMG-1; CMG1 | intraflagellar transport 74 |
| TCMBANKGE010082 | BBS5 | - | Bardet-Biedl syndrome 5 |
| TCMBANKGE006884 | MYO7A | DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2; USH1B | myosin VIIA |
| TCMBANKGE002840 | FEM1B | F1A-ALPHA; F1AA; FEM1-beta | fem-1 homolog B |
| TCMBANKGE009361 | GPT | AAT1; ALT1; GPT1 | glutamic--pyruvic transaminase |
| TCMBANKGE006310 | RAPGEF5 | GFR; MR-GEF; REPAC | Rap guanine nucleotide exchange factor 5 |
| TCMBANKGE005109 | SDCCAG8 | BBS16; CCCAP; CCCAP SLSN7; HSPC085; NPHP10; NY-CO-8; SLSN7; hCCCAP | SHH signaling and ciliogenesis regulator SDCCAG8 |
| TCMBANKGE004810 | INVS | INV; NPH2; NPHP2 | inversin |
| TCMBANKGE009491 | CEP19 | C3orf34; MOSPGF | centrosomal protein 19 |
| TCMBANKGE007543 | INSR | CD220; HHF5 | insulin receptor |
| TCMBANKGE005728 | BBS12 | C4orf24 | Bardet-Biedl syndrome 12 |
| TCMBANKGE006672 | MKKS | BBS6; HMCS; KMS; MKS | McKusick-Kaufman syndrome |
| TCMBANKGE003492 | KIFC3 | - | kinesin family member C3 |
| TCMBANKGE012031 | RAB8A | MEL; RAB8 | RAB8A, member RAS oncogene family |
| TCMBANKGE013974 | BBS9 | B1; C18; D1; PTHB1 | Bardet-Biedl syndrome 9 |
| TCMBANKGE012420 | TMEM67 | JBTS6; MECKELIN; MKS3; NPHP11; TNEM67 | transmembrane protein 67 |
| TCMBANKGE000612 | IQCB1 | NPHP5; PIQ; SLSN5 | IQ motif containing B1 |
| TCMBANKGE007493 | NMB | - | neuromedin B |
| TCMBANKGE013333 | AZIN1 | AZI; AZI1; AZIA1; OAZI; OAZIN; ODC1L | antizyme inhibitor 1 |
| TCMBANKGE000764 | TRPV1 | VR1 | transient receptor potential cation channel subfamily V member 1 |
| TCMBANKGE002831 | MYO3B | - | myosin IIIB |
| TCMBANKGE002308 | SCAPER | IDDRP; MSTP063; ZNF291; Zfp291 | S-phase cyclin A associated protein in the ER |
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Dai SX Lab