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TCMBANKDI024668

疾病ID:TCMBANKDI024668

疾病名:CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT

MeSH_Name:Musculoskeletal Diseases; Stomatognathic Diseases

HPO_Name:-

UMLS_Name:Disease or Syndrome

DO_Name:genetic disease; disease of anatomical entity

疾病类型:disease

DisGeNET_Link:C1852502

MeSH_Link:C05; C07

HPO_Link:-

UMLS_Link:T047

DO_Link:DOID:630; DOID:7

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

TCMBANKGE000325	VAV1	VAV	vav guanine nucleotide exchange factor 1
TCMBANKGE005456	COL6A3	BTHLM1; DYT27; UCMD1	collagen type VI alpha 3 chain
TCMBANKGE015178	DAG1	156DAG; A3a; AGRNR; DAG; LGMDR16; MDDGA9; MDDGC7; MDDGC9	dystroglycan 1
TCMBANKGE000182	B4galnt2	AI593864; Dlb-1; Dlb1; Galg2; Galgt2; Ggm3; Igf2bp1	beta-1,4-N-acetyl-galactosaminyl transferase 2
TCMBANKGE003153	DMD	BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85	dystrophin
TCMBANKGE000369	IFNA1	IFL; IFN; IFN-ALPHA; IFN-alphaD; IFNA13; IFNA@; leIF D	interferon alpha 1
TCMBANKGE015013	ANK1	ANK; SPH1; SPH2	ankyrin 1
TCMBANKGE012222	IFNA13	-	interferon alpha 13
TCMBANKGE015052	ROM1	ROM; ROSP1; RP7; TSPAN23	retinal outer segment membrane protein 1
TCMBANKGE000009	GJA1	AVSD3; CMDR; CX43; EKVP; EKVP3; GJAL; HLHS1; HSS; ODDD; PPKCA	gap junction protein alpha 1
TCMBANKGE006681	CCDC6	D10S170; H4; PTC; TPC; TST1	coiled-coil domain containing 6
TCMBANKGE010034	ANKH	ANK; CCAL2; CMDJ; CPPDD; HANK; MANK; SLC62A1	ANKH inorganic pyrophosphate transport regulator
TCMBANKGE010675	DYSF	FER1L1; LGMD2B; LGMDR2; MMD1	dysferlin
TCMBANKGE000243	LMNA	CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; MADA; PRO1	lamin A/C
TCMBANKGE015025	CHKB	CHETK; CHKL; CK; CKB; CKEKB; EK; EKB; MDCMC	choline kinase beta
TCMBANKGE000976	TNFSF11	CD254; ODF; OPGL; OPTB2; RANKL; TNLG6B; TRANCE; hRANKL2; sOdf	TNF superfamily member 11
TCMBANKGE000479	TIMP1	CLGI; EPA; EPO; HCI; TIMP; TIMP-1	TIMP metallopeptidase inhibitor 1
TCMBANKGE002339	GHR	GHBP; GHIP	growth hormone receptor
TCMBANKGE002094	CAPN3	CANP3; CANPL3; LGMD2; LGMD2A; LGMDD4; LGMDR1; nCL-1; p94	calpain 3
TCMBANKGE000297	JAK2	JTK10; THCYT3	Janus kinase 2
TCMBANKGE001171	SRC	ASV; SRC1; THC6; c-SRC; p60-Src	SRC proto-oncogene, non-receptor tyrosine kinase
TCMBANKGE003195	PDGFRB	CD140B; IBGC4; IMF1; JTK12; KOGS; PDGFR; PDGFR-1; PDGFR1; PENTT	platelet derived growth factor receptor beta
TCMBANKGE012625	BGN	DSPG1; MRLS; PG-S1; PGI; SEMDX; SLRR1A	biglycan
TCMBANKGE006691	FGFR3	ACH; CD333; CEK2; HSFGFR3EX; JTK4	fibroblast growth factor receptor 3
TCMBANKGE000886	SOX9	CMD1; CMPD1; SRA1; SRXX2; SRXY10	SRY-box transcription factor 9
TCMBANKGE014208	CAD	CDG1Z; EIEE50; GATD4	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
TCMBANKGE001654	SGCA	50DAG; ADL; DAG2; DMDA2; LGMD2D; LGMDR3; SCARMD1; adhalin	sarcoglycan alpha
TCMBANKGE000030	FKRP	FKTR; LGMD2I; LGMDR9; MDC1C; MDDGA5; MDDGB5; MDDGC5	fukutin related protein
TCMBANKGE011348	IGF2R	CD222; CI-M6PR; CIMPR; M6P-R; M6P/IGF2R; MPR 300; MPR1; MPR300; MPRI	insulin like growth factor 2 receptor
TCMBANKGE006453	LGALS4	GAL4; L36LBP	galectin 4
TCMBANKGE013764	LAMB1	CLM; LIS5	laminin subunit beta 1
TCMBANKGE001185	PPARG	CIMT1; GLM1; NR1C3; PPARG1; PPARG2; PPARG5; PPARgamma	peroxisome proliferator activated receptor gamma
TCMBANKGE002801	ST3GAL4	CGS23; NANTA3; SAT3; SIAT4; SIAT4C; ST-4; ST3GalA.2; ST3GalIV; STZ; gal-NAc6S	ST3 beta-galactoside alpha-2,3-sialyltransferase 4
TCMBANKGE002679	LAMA2	LAMM; MDC1A	laminin subunit alpha 2
TCMBANKGE012890	IFNA2	IFN-alpha-2; IFN-alphaA; IFNA; IFNA2B; leIF A	interferon alpha 2
TCMBANKGE007826	MPI	CDG1B; PMI; PMI1	mannose phosphate isomerase
TCMBANKGE008183	ACE	ACE1; CD143; DCP; DCP1	angiotensin I converting enzyme