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疾病ID:TCMBANKDI025174
疾病名:Generalized Myotonia of Thomsen
MeSH_Name:Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
HPO_Name:-
UMLS_Name:Disease or Syndrome
DO_Name:disease of anatomical entity
疾病类型:disease
DisGeNET_Link:C2936781
MeSH_Link:C16; C05; C10
HPO_Link:-
UMLS_Link:T047
DO_Link:DOID:7
HERB_ID:HBDIS020433
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 |
|---|
| TCMBANKGE000452 | CFTR | ABC35; ABCC7; CF; CFTR/MRP; MRP7; TNR-CFTR; dJ760C5.1 | CF transmembrane conductance regulator |
| TCMBANKGE000174 | MSTN | GDF8; MSLHP | myostatin |
| TCMBANKGE010847 | CIC | MRD45 | capicua transcriptional repressor |
| TCMBANKGE001126 | NFE2L2 | HEBP1; IMDDHH; NRF2; Nrf-2 | nuclear factor, erythroid 2 like 2 |
| TCMBANKGE000301 | SLC2A1 | CSE; DYT17; DYT18; DYT9; EIG12; GLUT; GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN | solute carrier family 2 member 1 |
| TCMBANKGE000290 | NQO1 | DHQU; DIA4; DTD; NMOR1; NMORI; QR1 | NAD(P)H quinone dehydrogenase 1 |
| TCMBANKGE000058 | SCN4A | CMS16; HOKPP2; HYKPP; HYPP; NAC1A; Na(V)1.4; Nav1.4; SkM1 | sodium voltage-gated channel alpha subunit 4 |
| TCMBANKGE010359 | DMPK | DM; DM1; DM1PK; DMK; MDPK; MT-PK | DM1 protein kinase |
| TCMBANKGE013724 | CLCN1 | CLC1 | chloride voltage-gated channel 1 |
| TCMBANKGE000774 | PRRT2 | BFIC2; BFIS2; DSPB3; DYT10; EKD1; FICCA; ICCA; IFITMD1; PKC | proline rich transmembrane protein 2 |
| TCMBANKGE004409 | CLC | GAL10; Gal-10; LGALS10; LGALS10A; LPPL_HUMAN | Charcot-Leyden crystal galectin |
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