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TCMBANKDI000248

疾病ID:TCMBANKDI000248

疾病名:Congenital Fiber Type Disproportion

MeSH_Name:Musculoskeletal Diseases; Nervous System Diseases

HPO_Name:-

UMLS_Name:Congenital Abnormality

DO_Name:genetic disease; disease of anatomical entity

疾病类型:disease

DisGeNET_Link:C0546264

MeSH_Link:C05; C10

HPO_Link:-

UMLS_Link:T019

DO_Link:DOID:630; DOID:7

HERB_ID:HBDIS010078

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

TCMBANKGE014689	CD38	ADPRC 1; ADPRC1	CD38 molecule
TCMBANKGE012940	MAP3K20	AZK; CNM6; MLK7; MLT; MLTK; MLTKalpha; MLTKbeta; MRK; SFMMP; ZAK; mlklak; pk	mitogen-activated protein kinase kinase kinase 20
TCMBANKGE002337	TPM2	AMCD1; DA1; DA2B; DA2B4; HEL-S-273; NEM4; TMSB	tropomyosin 2
TCMBANKGE012566	MYL2	CMH10; MLC-2s/v; MLC2	myosin light chain 2
TCMBANKGE000984	RYR1	CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR	ryanodine receptor 1
TCMBANKGE012777	BIN1	AMPH2; AMPHL; CNM2; SH3P9	bridging integrator 1
TCMBANKGE004741	TPM3	CAPM1; CFTD; HEL-189; HEL-S-82p; NEM1; OK/SW-cl.5; TM-5; TM3; TM30; TM30nm; TM5; TPM3nu; TPMsk3; TRK; hscp30	tropomyosin 3
TCMBANKGE000243	LMNA	CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; MADA; PRO1	lamin A/C
TCMBANKGE004802	POMGNT1	GNTI.2; GnT I.2; LGMD2O; LGMDR15; MEB; MGAT1.2; RP76; gnT-I.2	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
TCMBANKGE015025	CHKB	CHETK; CHKL; CK; CKB; CKEKB; EK; EKB; MDCMC	choline kinase beta
TCMBANKGE011378	MYH7	CMD1S; CMH1; MPD1; MYHCB; SPMD; SPMM	myosin heavy chain 7
TCMBANKGE002543	DNM2	CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2; DYNII; LCCS5	dynamin 2
TCMBANKGE011940	SPTBN4	CMND; NEDHND; QV; SPNB4; SPTBN3	spectrin beta, non-erythrocytic 4
TCMBANKGE000109	ACTB	BRWS1; PS1TP5BP1	actin beta
TCMBANKGE000030	FKRP	FKTR; LGMD2I; LGMDR9; MDC1C; MDDGA5; MDDGB5; MDDGC5	fukutin related protein
TCMBANKGE007543	INSR	CD220; HHF5	insulin receptor
TCMBANKGE010359	DMPK	DM; DM1; DM1PK; DMK; MDPK; MT-PK	DM1 protein kinase
TCMBANKGE013514	ACTA1	ACTA; ASMA; CFTD; CFTD1; CFTDM; MPFD; NEM1; NEM2; NEM3; SHPM	actin alpha 1, skeletal muscle
TCMBANKGE012504	STIM1	D11S4896E; GOK; IMD10; STRMK; TAM; TAM1	stromal interaction molecule 1
TCMBANKGE007770	PHOX2B	CCHS; NBLST2; NBPhox; PMX2B	paired like homeobox 2B
TCMBANKGE002167	MTM1	CNM; MTMX; XLMTM	myotubularin 1
TCMBANKGE014506	MYH7B	MHC14; MYH14	myosin heavy chain 7B