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TCMBANKDI011265

疾病ID:TCMBANKDI011265

疾病名:Pfaundler-Hurler Syndrome

MeSH_Name:Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases

HPO_Name:Abnormality of the skeletal system

UMLS_Name:Disease or Syndrome

DO_Name:disease of metabolism; genetic disease

疾病类型:disease

DisGeNET_Link:C0086795

MeSH_Link:C16; C18; C17

HPO_Link:HP:0000924

UMLS_Link:T047

DO_Link:DOID:0014667; DOID:630

HERB_ID:HBDIS003432

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

TCMBANKGE001033	FGFR1	BFGFR; CD331; CEK; ECCL; FGFBR; FGFR-1; FLG; FLT-2; FLT2; HBGFR; HH2; HRTFDS; KAL2; N-SAM; OGD; bFGF-R-1	fibroblast growth factor receptor 1
TCMBANKGE007917	IDUA	IDA; MPS1; MPSI	alpha-L-iduronidase
TCMBANKGE012867	AGA	AGU; ASRG; GA	aspartylglucosaminidase
TCMBANKGE007466	FUCA1	FUCA	alpha-L-fucosidase 1
TCMBANKGE001437	NME1	AWD; GAAD; NB; NBS; NDKA; NDPK-A; NDPKA; NM23; NM23-H1	NME/NM23 nucleoside diphosphate kinase 1
TCMBANKGE000890	FUT1	H; HH; HSC	fucosyltransferase 1 (H blood group)
TCMBANKGE013038	AFP	AFPD; FETA; HPAFP	alpha fetoprotein
TCMBANKGE004181	GLB1	EBP; ELNR1; MPS4B	galactosidase beta 1
TCMBANKGE008899	IDS	ID2S; MPS2; SIDS	iduronate 2-sulfatase
TCMBANKGE008130	RINT1	ILFS3; RINT-1	RAD50 interactor 1
TCMBANKGE002098	NAGLU	CMT2V; MPS-IIIB; MPS3B; NAG; UFHSD	N-acetyl-alpha-glucosaminidase
TCMBANKGE001176	CAT	-	catalase
TCMBANKGE011782	NSUN2	MISU; MRT5; SAKI; TRM4	NOP2/Sun RNA methyltransferase 2
TCMBANKGE005990	TTK	CT96; ESK; MPH1; MPS1; MPS1L1; PYT	TTK protein kinase
TCMBANKGE002485	PHEX	HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH	phosphate regulating endopeptidase homolog X-linked
TCMBANKGE002350	SLC26A1	CAON; EDM4; SAT-1; SAT1	solute carrier family 26 member 1
TCMBANKGE008822	GNE	DMRV; GLCNE; IBM2; NM; Uae1	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
TCMBANKGE011193	RPS27	DBA17; MPS-1; MPS1; S27	ribosomal protein S27
TCMBANKGE013449	ARSB	ASB; G4S; MPS6	arylsulfatase B
TCMBANKGE006424	SGSH	HSS; MPS3A; SFMD	N-sulfoglucosamine sulfohydrolase
TCMBANKGE007164	MAN2B1	LAMAN; MANB	mannosidase alpha class 2B member 1
TCMBANKGE013569	GNPTAB	GNPTA; ICD	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
TCMBANKGE001056	KRAS	C-K-RAS; C-K-RAS; CFC2; K-RAS2A; K-RAS2B; K-RAS4A; K-RAS4B; K-Ras; K-Ras 2; KI-RAS; KRAS1; KRAS2; NS; NS3; OES; RALD; RASK2; c-Ki-ras; c-Ki-ras2	KRAS proto-oncogene, GTPase
TCMBANKGE010995	GUSB	BG; MPS7	glucuronidase beta
TCMBANKGE007513	GNS	G6S	glucosamine (N-acetyl)-6-sulfatase
TCMBANKGE008411	PHKG2	GSD9C	phosphorylase kinase catalytic subunit gamma 2
TCMBANKGE000349	NBN	AT-V1; AT-V2; ATV; NBS; NBS1; P95	nibrin
TCMBANKGE001493	CTSA	GLB2; GSL; NGBE; PPCA; PPGB	cathepsin A
TCMBANKGE001808	MPEG1	MPG1; MPS1; Mpg-1; P-2	macrophage expressed 1
TCMBANKGE014777	NEU1	NANH; NEU; SIAL1	neuraminidase 1