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疾病ID:TCMBANKDI018048


疾病名:22q13.3 Deletion Syndrome


MeSH_Name:Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities


HPO_Name:-


UMLS_Name:Disease or Syndrome


DO_Name:genetic disease


疾病类型:disease


DisGeNET_Link:C1853490


MeSH_Link:C23; C16


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
TCMBANKGE000261 INS IDDM; IDDM1; IDDM2; ILPR; IRDN; MODY10; PNDM4 insulin
TCMBANKGE011395 CLK2 - CDC like kinase 2
TCMBANKGE011072 CACNA1C CACH2; CACN2; CACNL1A1; CCHL1A1; CaV1.2; LQT8; TS; TS. LQT8 calcium voltage-gated channel subunit alpha1 C
TCMBANKGE001030 NOTCH1 AOS5; AOVD1; TAN1; hN1 notch receptor 1
TCMBANKGE008368 PNPLA3 ADPN; C22orf20; iPLA(2)epsilon patatin like phospholipase domain containing 3
TCMBANKGE008334 MBD5 MRD1 methyl-CpG binding domain protein 5
TCMBANKGE001125 IGF1 IGF; IGF-I; IGFI; MGF insulin like growth factor 1
TCMBANKGE004957 SHANK1 SPANK-1; SSTRIP; synamon SH3 and multiple ankyrin repeat domains 1
TCMBANKGE012046 ARSA ASA; MLD arylsulfatase A
TCMBANKGE013698 SHANK2 AUTS17; CORTBP1; CTTNBP1; ProSAP1; SHANK; SPANK-3 SH3 and multiple ankyrin repeat domains 2
TCMBANKGE006854 MAPK8IP2 IB-2; IB2; JIP2; PRKM8IPL mitogen-activated protein kinase 8 interacting protein 2