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TCMBANKDI020128

疾病ID:TCMBANKDI020128

疾病名:Sprengel deformity

MeSH_Name:Congenital, Hereditary, and Neonatal Diseases and Abnormalities

HPO_Name:Abnormality of the skeletal system

UMLS_Name:Congenital Abnormality

DO_Name:genetic disease; disease of anatomical entity; physical disorder

疾病类型:disease

DisGeNET_Link:C0152438

MeSH_Link:C16

HPO_Link:HP:0000924

UMLS_Link:T019

DO_Link:DOID:630; DOID:7; DOID:0080015

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

TCMBANKGE011020	FHL1	FCMSU; FHL-1; FHL1A; FHL1B; FLH1A; KYOT; RBMX1A; RBMX1B; SLIM; SLIM-1; SLIM1; SLIMMER; XMPMA	four and a half LIM domains 1
TCMBANKGE001164	RAF1	CMD1NN; CRAF; NS5; Raf-1; c-Raf	Raf-1 proto-oncogene, serine/threonine kinase
TCMBANKGE008782	TBX2	VETD	T-box transcription factor 2
TCMBANKGE000173	BRAF	B-RAF1; B-raf; BRAF1; NS7; RAFB1	B-Raf proto-oncogene, serine/threonine kinase
TCMBANKGE009857	THRB	C-ERBA-2; C-ERBA-BETA; ERBA2; GRTH; NR1A2; PRTH; THR1; THRB1; THRB2	thyroid hormone receptor beta
TCMBANKGE002175	COL3A1	EDS4A; EDSVASC; PMGEDSV	collagen type III alpha 1 chain
TCMBANKGE013872	HSPG2	HSPG; PLC; PRCAN; SJA; SJS; SJS1	heparan sulfate proteoglycan 2
TCMBANKGE010741	GDF3	KFS3; MCOP7; MCOPCB6	growth differentiation factor 3
TCMBANKGE012490	SF3B4	AFD1; Hsh49; SAP49; SF3b49	splicing factor 3b subunit 4
TCMBANKGE009312	THOC6	WDR58; fSAP35	THO complex 6
TCMBANKGE010327	EMD	EDMD; LEMD5; STA	emerin
TCMBANKGE000243	LMNA	CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; MADA; PRO1	lamin A/C
TCMBANKGE008434	MEOX1	KFS2; MOX1	mesenchyme homeobox 1
TCMBANKGE006521	PTCH2	PTC2	patched 2
TCMBANKGE000904	PTCH1	BCNS; NBCCS; PTC; PTC1; PTCH	patched 1
TCMBANKGE013488	SYNE1	8B; AMCM; ARCA1; C6orf98; CPG2; EDMD4; KASH1; MYNE1; Nesp1; SCAR8; dJ45H2.2	spectrin repeat containing nuclear envelope protein 1
TCMBANKGE000328	PTPN11	BPTP3; CFC; JMML; METCDS; NS1; PTP-1D; PTP2C; SH-PTP2; SH-PTP3; SHP2	protein tyrosine phosphatase non-receptor type 11
TCMBANKGE002440	TBX3	TBX3-ISO; UMS; XHL	T-box transcription factor 3
TCMBANKGE012270	SYNE2	EDMD5; KASH2; NUA; NUANCE; Nesp2; Nesprin-2; SYNE-2; TROPH	spectrin repeat containing nuclear envelope protein 2
TCMBANKGE009308	RPL11	DBA7; GIG34; L11; uL5	ribosomal protein L11
TCMBANKGE008679	EFNB1	CFND; CFNS; EFB1; EFL3; EPLG2; Elk-L; LERK2	ephrin B1
TCMBANKGE000895	SUFU	JBTS32; PRO1280; SUFUH; SUFUXL	SUFU negative regulator of hedgehog signaling
TCMBANKGE002843	GDF6	BMP-13; BMP13; CDMP2; KFM; KFS; KFS1; KFSL; SGM1; SYNS4	growth differentiation factor 6
TCMBANKGE005500	NPR2	AMDM; ANPRB; ANPb; ECDM; GC-B; GCB; GUC2B; GUCY2B; NPRB; NPRBi; SNSK	natriuretic peptide receptor 2
TCMBANKGE005857	Pax3	Pax-3; Sp; Splchl2; splotch	paired box 3