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疾病ID:TCMBANKDI006621


疾病名:Congenital disorder of glycosylation type 1q


MeSH_Name:Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases


HPO_Name:-


UMLS_Name:Disease or Syndrome


DO_Name:disease of metabolism; genetic disease


疾病类型:disease


DisGeNET_Link:C4317224


MeSH_Link:C16; C18


HPO_Link:-


UMLS_Link:T047


DO_Link:DOID:0014667; 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
TCMBANKGE002700 SLC35A1 CDG2F; CMPST; CST; hCST solute carrier family 35 member A1
TCMBANKGE009239 SRD5A3 CDG1P; CDG1Q; KRIZI; SRD5A2L; SRD5A2L1 steroid 5 alpha-reductase 3
TCMBANKGE012336 DOLK CDG1M; DK; DK1; SEC59; TMEM15 dolichol kinase
TCMBANKGE009080 PMM2 CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2 phosphomannomutase 2
TCMBANKGE011246 DPM1 CDGIE; MPDS dolichyl-phosphate mannosyltransferase subunit 1, catalytic
TCMBANKGE004706 MOGS CDG2B; CWH41; DER7; GCS1 mannosyl-oligosaccharide glucosidase
TCMBANKGE007826 MPI CDG1B; PMI; PMI1 mannose phosphate isomerase
TCMBANKGE013921 MPDU1 CDGIF; HBEBP2BPA; Lec35; My008; PP3958; PQLC5; SL15; SLC66A5 mannose-P-dolichol utilization defect 1