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TCMBANKDI002112

疾病ID:TCMBANKDI002112

疾病名:Schwartz-Jampel Syndrome, Type 1

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

HPO_Name:-

UMLS_Name:Disease or Syndrome

DO_Name:genetic disease

疾病类型:disease

DisGeNET_Link:C4551479

MeSH_Link:C16; C05

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

TCMBANKGE008062	DLL3	SCDO1	delta like canonical Notch ligand 3
TCMBANKGE008065	COL11A1	CO11A1; COLL6; DFNA37; STL2	collagen type XI alpha 1 chain
TCMBANKGE001387	TRAPPC2	MIP2A; SEDL; SEDT; TRAPPC2P1; TRS20; ZNF547L; hYP38334	trafficking protein particle complex 2
TCMBANKGE014699	COL9A1	DJ149L1.1.2; EDM6; MED; STL4	collagen type IX alpha 1 chain
TCMBANKGE013872	HSPG2	HSPG; PLC; PRCAN; SJA; SJS; SJS1	heparan sulfate proteoglycan 2
TCMBANKGE005314	SOST	CDD; DAND6; SOST1; VBCH	sclerostin
TCMBANKGE000160	COL2A1	ANFH; AOM; COL11A3; SEDC; STL1	collagen type II alpha 1 chain
TCMBANKGE004181	GLB1	EBP; ELNR1; MPS4B	galactosidase beta 1
TCMBANKGE000257	FLT1	FLT; FLT-1; VEGFR-1; VEGFR1	fms related receptor tyrosine kinase 1
TCMBANKGE004970	CHST3	C6ST; C6ST1; HSD	carbohydrate sulfotransferase 3
TCMBANKGE005941	FLNA	ABP-280; ABPX; CSBS; CVD1; FGS2; FLN; FLN-A; FLN1; FMD; MNS; NHBP; OPD; OPD1; OPD2; XLVD; XMVD	filamin A
TCMBANKGE001183	TRPV4	BCYM3; CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA; SSQTL1; TRP12; VRL2; VROAC	transient receptor potential cation channel subfamily V member 4
TCMBANKGE000979	KDR	CD309; FLK1; VEGFR; VEGFR2	kinase insert domain receptor