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TCMBANKDI003685

疾病ID:TCMBANKDI003685

疾病名:Pena-Shokeir syndrome type I

MeSH_Name:Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases

HPO_Name:Abnormality of prenatal development or birth

UMLS_Name:Disease or Syndrome

DO_Name:genetic disease

疾病类型:disease

DisGeNET_Link:C1276035

MeSH_Link:C16; C05

HPO_Link:HP:0001197

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

TCMBANKGE015101	KIF5C	CDCBM2; KINN; NKHC; NKHC-2; NKHC2	kinesin family member 5C
TCMBANKGE010967	FLAD1	FAD1; FADS; LSMFLAD; PP591	flavin adenine dinucleotide synthetase 1
TCMBANKGE000023	CNTNAP1	CASPR; CHN3; CNTNAP; NRXN4; P190	contactin associated protein 1
TCMBANKGE013324	GBE1	APBD; GBE; GSD4	1,4-alpha-glucan branching enzyme 1
TCMBANKGE002337	TPM2	AMCD1; DA1; DA2B; DA2B4; HEL-S-273; NEM4; TMSB	tropomyosin 2
TCMBANKGE000984	RYR1	CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR	ryanodine receptor 1
TCMBANKGE011474	NUP88	FADS4	nucleoporin 88
TCMBANKGE013107	MYOD1	MYF3; MYOD; PUM; bHLHc1	myogenic differentiation 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
TCMBANKGE010487	CHRNA1	ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A; FCCMS; SCCMS	cholinergic receptor nicotinic alpha 1 subunit
TCMBANKGE001342	TUBB2B	CDCBM7; PMGYSA; bA506K6.1	tubulin beta 2B class IIb
TCMBANKGE010457	MUSK	CMS9; FADS; FADS1	muscle associated receptor tyrosine kinase
TCMBANKGE010862	CHRND	ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS; SCCMS	cholinergic receptor nicotinic delta subunit
TCMBANKGE000577	SLC18A3	CMS21; VACHT	solute carrier family 18 member A3
TCMBANKGE009872	PDHA1	PDHA; PDHAD; PDHCE1A; PHE1A	pyruvate dehydrogenase E1 subunit alpha 1
TCMBANKGE008228	CNTN1	F3; GP135; MYPCN	contactin 1
TCMBANKGE002136	GBA	GBA1; GCB; GLUC	glucosylceramidase beta
TCMBANKGE008531	ASCC1	ASC1p50; CGI-18; SMABF2; p50	activating signal cointegrator 1 complex subunit 1
TCMBANKGE009953	NEB	NEB177D; NEM2	nebulin
TCMBANKGE000109	ACTB	BRWS1; PS1TP5BP1	actin beta
TCMBANKGE013488	SYNE1	8B; AMCM; ARCA1; C6orf98; CPG2; EDMD4; KASH1; MYNE1; Nesp1; SCAR8; dJ45H2.2	spectrin repeat containing nuclear envelope protein 1
TCMBANKGE011530	RAPSN	CMS11; CMS4C; FADS; FADS2; RAPSYN; RNF205	receptor associated protein of the synapse
TCMBANKGE004915	NMNAT2	C1orf15; PNAT2	nicotinamide nucleotide adenylyltransferase 2
TCMBANKGE003317	DPAGT1	ALG7; CDG-Ij; CDG1J; CMS13; CMSTA2; D11S366; DGPT; DPAGT; DPAGT2; G1PT; GPT; UAGT; UGAT	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
TCMBANKGE008225	COL1A2	EDSARTH2; EDSCV; OI4	collagen type I alpha 2 chain
TCMBANKGE003873	DOK7	C4orf25; CMS10; CMS1B; FADS3	docking protein 7
TCMBANKGE008166	AGRN	AGRIN; CMS8; CMSPPD	agrin
TCMBANKGE013514	ACTA1	ACTA; ASMA; CFTD; CFTD1; CFTDM; MPFD; NEM1; NEM2; NEM3; SHPM	actin alpha 1, skeletal muscle
TCMBANKGE012244	DTNA	D18S892E; DRP3; DTN; DTN-A; LVNC1	dystrobrevin alpha
TCMBANKGE014586	CHRNG	ACHRG	cholinergic receptor nicotinic gamma subunit
TCMBANKGE004231	GLE1	CAAHC; CAAHD; GLE1L; LCCS; LCCS1; hGLE1	GLE1 RNA export mediator
TCMBANKGE013098	KIF14	MCPH20; MKS12	kinesin family member 14