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疾病ID:TCMBANKDI004210


疾病名:De Toni-Debre-Fanconi Syndrome


MeSH_Name:Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases


HPO_Name:-


UMLS_Name:Disease or Syndrome


DO_Name:genetic disease; disease of anatomical entity


疾病类型:disease


DisGeNET_Link:C1857395


MeSH_Link:C16; C13; C12


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
TCMBANKGE011588 HNF4A FRTS4; HNF4; HNF4a7; HNF4a8; HNF4a9; HNF4alpha; MODY; MODY1; NR2A1; NR2A21; TCF; TCF14 hepatocyte nuclear factor 4 alpha
TCMBANKGE001753 GPX3 GPx-P; GSHPx-3; GSHPx-P glutathione peroxidase 3
TCMBANKGE007997 OCRL Dent-2; INPP5F; LOCR; NPHL2; OCRL-1; OCRL1 OCRL inositol polyphosphate-5-phosphatase
TCMBANKGE000955 ABCC2 ABC30; CMOAT; DJS; MRP2; cMRP ATP binding cassette subfamily C member 2
TCMBANKGE003422 CTNS CTNS-LSB; PQLC4; SLC66A4 cystinosin, lysosomal cystine transporter
TCMBANKGE003228 LRP2 DBS; GP330; LRP-2 LDL receptor related protein 2
TCMBANKGE007201 BCS1L BCS; BCS1; BJS; FLNMS; GRACILE; Hs.6719; MC3DN1; PTD; h-BCS; h-BCS1 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
TCMBANKGE000390 ABCC4 MOAT-B; MOATB; MRP4 ATP binding cassette subfamily C member 4
TCMBANKGE002785 SLC34A1 FRTS2; HCINF2; NAPI-3; NPHLOP1; NPT2; NPTIIa; SLC11; SLC17A2 solute carrier family 34 member 1
TCMBANKGE013839 NDUFAF6 C8orf38; MC1DN17 NADH:ubiquinone oxidoreductase complex assembly factor 6
TCMBANKGE005364 SLC2A2 GLUT2 solute carrier family 2 member 2
TCMBANKGE013506 CLCN5 CLC5; CLCK2; ClC-5; DENTS; NPHL1; NPHL2; XLRH; XRN; hCIC-K2 chloride voltage-gated channel 5
TCMBANKGE010522 EHHADH ECHD; FRTS3; L-PBE; LBFP; LBP; PBFE enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
TCMBANKGE005460 XPR1 IBGC6; SLC53A1; SYG1; X3 xenotropic and polytropic retrovirus receptor 1