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疾病ID:TCMBANKDI015517


疾病名:Albinism, Ocular


MeSH_Name:Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases


HPO_Name:Abnormality of the eye


UMLS_Name:Congenital Abnormality


DO_Name:disease of anatomical entity


疾病类型:disease


DisGeNET_Link:C0078917


MeSH_Link:C16; C18; C11; C17


HPO_Link:HP:0000478


UMLS_Link:T019


DO_Link:DOID:7


HERB_ID:HBDIS003170


   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
TCMBANKGE014901 TYRP1 CAS2; CATB; GP75; OCA3; TRP; TRP1; TYRP; b-PROTEIN tyrosinase related protein 1
TCMBANKGE011934 LYST CHS; CHS1 lysosomal trafficking regulator
TCMBANKGE004703 GABRD EIG10; EJM7; GEFSP5 gamma-aminobutyric acid type A receptor subunit delta
TCMBANKGE006046 SLC45A2 1A1; AIM1; MATP; OCA4; SHEP5 solute carrier family 45 member 2
TCMBANKGE009980 AP3B1 ADTB3; ADTB3A; HPS; HPS2; PE adaptor related protein complex 3 subunit beta 1
TCMBANKGE007957 PRDM16 CMD1LL; KMT8F; LVNC8; MEL1; PFM13 PR/SET domain 16
TCMBANKGE009703 SLC38A8 FVH2 solute carrier family 38 member 8
TCMBANKGE013857 PMPCA Alpha-MPP; CLA1; CPD3; INPP5E; P-55; SCAR2 peptidase, mitochondrial processing subunit alpha
TCMBANKGE002342 GNAI3 87U6; ARCND1 G protein subunit alpha i3
TCMBANKGE005152 BLOC1S3 BLOS3; HPS8; RP biogenesis of lysosomal organelles complex 1 subunit 3
TCMBANKGE003185 HERC2 D15F37S1; MRT38; SHEP1; jdf2; p528 HECT and RLD domain containing E3 ubiquitin protein ligase 2
TCMBANKGE009110 HPS5 AIBP63; BLOC2S2 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
TCMBANKGE001524 SKI SGS; SKV SKI proto-oncogene
TCMBANKGE010509 KCNAB2 AKR6A5; HKvbeta2; HKvbeta2.1; HKvbeta2.2; KCNA2B; KV-BETA-2 potassium voltage-gated channel subfamily A regulatory beta subunit 2
TCMBANKGE006899 TBL1X CHNG8; EBI; SMAP55; TBL1 transducin beta like 1 X-linked
TCMBANKGE002762 OCA2 BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2; EYCL3; HCL3; P; PED; SHEP1 OCA2 melanosomal transmembrane protein
TCMBANKGE001879 STS ARSC; ARSC1; ASC; ES; SSDD; XLI steroid sulfatase
TCMBANKGE010690 PLXNA2 OCT; PLXN2 plexin A2
TCMBANKGE015024 ABCA4 ABC10; ABCR; ARMD2; CORD3; FFM; RMP; RP19; STGD; STGD1 ATP binding cassette subfamily A member 4
TCMBANKGE013930 TYR ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3 tyrosinase
TCMBANKGE013800 EPG5 HEEW1; KIAA1632; VICIS ectopic P-granules autophagy protein 5 homolog
TCMBANKGE000377 MITF CMM8; COMMAD; MI; WS2; WS2A; bHLHe32 melanocyte inducing transcription factor
TCMBANKGE007328 PAX6 AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA; WAGR paired box 6