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疾病ID:TCMBANKDI028931
疾病名:Hermanski-Pudlak Syndrome
MeSH_Name:Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
HPO_Name:-
UMLS_Name:Disease or Syndrome
DO_Name:genetic disease
疾病类型:disease
DisGeNET_Link:C0079504
MeSH_Link:C16; C18; C11; C17; C15
HPO_Link:-
UMLS_Link:T047
DO_Link:DOID:630
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 |
|---|
| TCMBANKGE013832 | AP3D1 | ADTD; HPS10; hBLVR | adaptor related protein complex 3 subunit delta 1 |
| TCMBANKGE000759 | MAP1LC3B | ATG8F; LC3B; MAP1A/1BLC3; MAP1LC3B-a | microtubule associated protein 1 light chain 3 beta |
| TCMBANKGE014901 | TYRP1 | CAS2; CATB; GP75; OCA3; TRP; TRP1; TYRP; b-PROTEIN | tyrosinase related protein 1 |
| TCMBANKGE011934 | LYST | CHS; CHS1 | lysosomal trafficking regulator |
| TCMBANKGE009980 | AP3B1 | ADTB3; ADTB3A; HPS; HPS2; PE | adaptor related protein complex 3 subunit beta 1 |
| TCMBANKGE008653 | GDI1 | 1A; GDIL; MRX41; MRX48; OPHN2; RABGD1A; RABGDIA; XAP-4 | GDP dissociation inhibitor 1 |
| TCMBANKGE009525 | PI4K2A | PI4KII; PIK42A | phosphatidylinositol 4-kinase type 2 alpha |
| TCMBANKGE000004 | PWAR4 | PAR-4; PAR4 | Prader Willi/Angelman region RNA 4 |
| TCMBANKGE004460 | RASGRF1 | CDC25; CDC25L; GNRP; GRF1; GRF55; H-GRF55; PP13187; ras-GRF1 | Ras protein specific guanine nucleotide releasing factor 1 |
| TCMBANKGE006489 | P2RY1 | P2Y1; SARCC | purinergic receptor P2Y1 |
| TCMBANKGE010739 | TFF1 | BCEI; D21S21; HP1.A; HPS2; pNR-2; pS2 | trefoil factor 1 |
| TCMBANKGE008888 | CHI3L1 | ASRT7; CGP-39; GP-39; GP39; HC-gp39; HCGP-3P; YK-40; YKL-40; YKL40; YYL-40; hCGP-39 | chitinase 3 like 1 |
| TCMBANKGE010864 | SFTPA1 | COLEC4; PSAP; PSP-A; PSPA; SFTP1; SFTPA1B; SP-A; SP-A1; SP-A1 beta; SP-A1 delta; SP-A1 epsilon; SP-A1 gamma; SPA; SPA1 | surfactant protein A1 |
| TCMBANKGE006522 | HLA-C | D6S204; HLA-JY3; HLAC; HLC-C; MHC; PSORS1 | major histocompatibility complex, class I, C |
| TCMBANKGE000032 | ARHGEF2 | GEF; GEF-H1; GEFH1; LFP40; Lfc; NEDMHM; P40 | Rho/Rac guanine nucleotide exchange factor 2 |
| TCMBANKGE002488 | MARK4 | MARK4L; MARK4S; MARKL1; MARKL1L; PAR-1D | microtubule affinity regulating kinase 4 |
| TCMBANKGE000033 | SOS1 | GF1; GGF1; GINGF; HGF; NS4; SOS-1 | SOS Ras/Rac guanine nucleotide exchange factor 1 |
| TCMBANKGE013170 | ELANE | ELA2; GE; HLE; HNE; NE; PMN-E; SCN1 | elastase, neutrophil expressed |
| TCMBANKGE004064 | SLC7A11 | CCBR1; xCT | solute carrier family 7 member 11 |
| TCMBANKGE003674 | CD63 | LAMP-3; ME491; MLA1; OMA81H; TSPAN30 | CD63 molecule |
| TCMBANKGE000876 | PRDX5 | ACR1; AOEB166; B166; HEL-S-55; PLP; PMP20; PRDX6; PRXV; SBBI10; prx-V | peroxiredoxin 5 |
| TCMBANKGE005152 | BLOC1S3 | BLOS3; HPS8; RP | biogenesis of lysosomal organelles complex 1 subunit 3 |
| TCMBANKGE000348 | PAWR | PAR4; Par-4 | pro-apoptotic WT1 regulator |
| TCMBANKGE009420 | F2RL3 | PAR4 | F2R like thrombin or trypsin receptor 3 |
| TCMBANKGE008962 | BHLHE22 | BHLHB5; Beta3; Beta3a; CAGL85; TNRC20 | basic helix-loop-helix family member e22 |
| TCMBANKGE009110 | HPS5 | AIBP63; BLOC2S2 | HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 |
| TCMBANKGE004562 | CP | CP-2 | ceruloplasmin |
| TCMBANKGE004689 | NXF1 | MEX67; TAP | nuclear RNA export factor 1 |
| TCMBANKGE008823 | VAMP8 | EDB; VAMP-8 | vesicle associated membrane protein 8 |
| TCMBANKGE004489 | RABGGTA | PTAR3 | Rab geranylgeranyltransferase subunit alpha |
| TCMBANKGE002317 | SFTPC | BRICD6; PSP-C; SFTP2; SMDP2; SP-C; SP5 | surfactant protein C |
| TCMBANKGE002762 | OCA2 | BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2; EYCL3; HCL3; P; PED; SHEP1 | OCA2 melanosomal transmembrane protein |
| TCMBANKGE008481 | VWF | F8VWF; VWD | von Willebrand factor |
| TCMBANKGE000109 | ACTB | BRWS1; PS1TP5BP1 | actin beta |
| TCMBANKGE000860 | LGALS3 | CBP35; GAL3; GALBP; GALIG; L31; LGALS2; MAC2 | galectin 3 |
| TCMBANKGE004967 | PDIA2 | PDA2; PDI; PDIP; PDIR | protein disulfide isomerase family A member 2 |
| TCMBANKGE013930 | TYR | ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3 | tyrosinase |
| TCMBANKGE000390 | ABCC4 | MOAT-B; MOATB; MRP4 | ATP binding cassette subfamily C member 4 |
| TCMBANKGE010026 | CD1B | CD1; CD1A; R1 | CD1b molecule |
| TCMBANKGE008444 | SLC2A4RG | GEF; HDBP-1; HDBP1; Si-1-2; Si-1-2-19 | SLC2A4 regulator |
| TCMBANKGE003188 | P4HB | CLCRP1; DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1; PHDB; PO4DB; PO4HB; PROHB | prolyl 4-hydroxylase subunit beta |
| TCMBANKGE011421 | RAB38 | NY-MEL-1; rrGTPbp | RAB38, member RAS oncogene family |
| TCMBANKGE007566 | RAB9A | RAB9 | RAB9A, member RAS oncogene family |
| TCMBANKGE006040 | SLC25A20 | CAC; CACT | solute carrier family 25 member 20 |
| TCMBANKGE007328 | PAX6 | AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA; WAGR | paired box 6 |
| TCMBANKGE013473 | F2R | CF2R; HTR; PAR-1; PAR1; TR | coagulation factor II thrombin receptor |
| TCMBANKGE008458 | CHM | DXS540; GGTA; HSD-32; REP-1; TCD | CHM Rab escort protein |
| TCMBANKGE005206 | VPS39 | TLP; VAM6; hVam6p | VPS39 subunit of HOPS complex |
| TCMBANKGE007742 | HSPB3 | DHMN2C; HMN2C; HSPL27 | heat shock protein family B (small) member 3 |
| TCMBANKGE009659 | PADI1 | HPAD10; PAD1; PDI; PDI1 | peptidyl arginine deiminase 1 |
| TCMBANKGE000175 | FBXW7 | AGO; CDC4; FBW6; FBW7; FBX30; FBXO30; FBXW6; SEL-10; SEL10; hAgo; hCdc4 | F-box and WD repeat domain containing 7 |
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Dai SX Lab