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TCMBANKDI002581

疾病ID:TCMBANKDI002581

疾病名:Meckel syndrome type 1

MeSH_Name:Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases

HPO_Name:-

UMLS_Name:Disease or Syndrome

DO_Name:genetic disease; syndrome

疾病类型:disease

DisGeNET_Link:C3714506

MeSH_Link:C23; C16; C13; C11; C12; C08; C10; C09

HPO_Link:-

UMLS_Link:T047

DO_Link:DOID:630; DOID:225

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

TCMBANKGE002686	CEP120	CCDC100; JBTS31; SRTD13	centrosomal protein 120
TCMBANKGE000250	CCL5	D17S136E; RANTES; SCYA5; SIS-delta; SISd; TCP228; eoCP	C-C motif chemokine ligand 5
TCMBANKGE000662	MIR181D	MIRN181D; mir-181d	microRNA 181d
TCMBANKGE009984	B9D1	B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1	B9 domain containing 1
TCMBANKGE000440	HDAC1	GON-10; HD1; KDAC1; RPD3; RPD3L1	histone deacetylase 1
TCMBANKGE002585	HYLS1	HLS	HYLS1 centriolar and ciliogenesis associated
TCMBANKGE000274	CCL2	GDCF-2; HC11; HSMCR30; MCAF; MCP-1; MCP1; SCYA2; SMC-CF	C-C motif chemokine ligand 2
TCMBANKGE001048	TGM2	TG(C); TGC	transglutaminase 2
TCMBANKGE004860	TMEM107	GRVS638; JBTS29; MKS13; PRO1268	transmembrane protein 107
TCMBANKGE008710	TCTN1	JBTS13; TECT1	tectonic family member 1
TCMBANKGE005281	ALDH1A3	ALDH1A6; ALDH6; MCOP8; RALDH3	aldehyde dehydrogenase 1 family member A3
TCMBANKGE003033	ARL13A	ARL13; dJ341D10.2	ADP ribosylation factor like GTPase 13A
TCMBANKGE005302	DVL1	DRS2; DVL; DVL1L1; DVL1P1	dishevelled segment polarity protein 1
TCMBANKGE005293	TXNDC15	BUG; C5orf14; UNQ335	thioredoxin domain containing 15
TCMBANKGE013038	AFP	AFPD; FETA; HPAFP	alpha fetoprotein
TCMBANKGE006445	NPHP3	CFAP31; MKS7; NPH3; RHPD; RHPD1; SLSN3	nephrocystin 3
TCMBANKGE008375	CSPP1	CSPP; CSPP-L; JBTS21	centrosome and spindle pole associated protein 1
TCMBANKGE000613	CEP290	3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4; NPHP6; POC3; SLSN6; rd16	centrosomal protein 290
TCMBANKGE001106	MTOR	FRAP; FRAP1; FRAP2; RAFT1; RAPT1; SKS	mechanistic target of rapamycin kinase
TCMBANKGE003611	WDPCP	BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ; FRTZ	WD repeat containing planar cell polarity effector
TCMBANKGE010353	BBS4	-	Bardet-Biedl syndrome 4
TCMBANKGE014523	LPO	SPO	lactoperoxidase
TCMBANKGE006529	INPP5E	CORS1; CPD4; JBTS1; MORMS; PPI5PIV; pharbin	inositol polyphosphate-5-phosphatase E
TCMBANKGE005941	FLNA	ABP-280; ABPX; CSBS; CVD1; FGS2; FLN; FLN-A; FLN1; FMD; MNS; NHBP; OPD; OPD1; OPD2; XLVD; XMVD	filamin A
TCMBANKGE001125	IGF1	IGF; IGF-I; IGFI; MGF	insulin like growth factor 1
TCMBANKGE004810	INVS	INV; NPH2; NPHP2	inversin
TCMBANKGE000845	CCL4	ACT2; AT744.1; G-26; HC21; LAG-1; LAG1; MIP-1-beta; MIP1B; MIP1B1; SCYA2; SCYA4	C-C motif chemokine ligand 4
TCMBANKGE006672	MKKS	BBS6; HMCS; KMS; MKS	McKusick-Kaufman syndrome
TCMBANKGE002735	RPGRIP1L	CORS3; FTM; JBTS7; MKS5; NPHP8; PPP1R134	RPGRIP1 like
TCMBANKGE009438	PTGDS	L-PGDS; LPGDS; PDS; PGD2; PGDS; PGDS2	prostaglandin D2 synthase
TCMBANKGE012420	TMEM67	JBTS6; MECKELIN; MKS3; NPHP11; TNEM67	transmembrane protein 67
TCMBANKGE001871	RPGRIP1	CORD13; LCA6; RGI1; RGRIP; RPGRIP; RPGRIP1d	RPGR interacting protein 1
TCMBANKGE000868	NFATC1	NF-ATC; NF-ATc1.2; NFAT2; NFATc	nuclear factor of activated T cells 1
TCMBANKGE013098	KIF14	MCPH20; MKS12	kinesin family member 14
TCMBANKGE000075	IL1RN	DIRA; ICIL-1RA; IL-1RN; IL-1ra; IL-1ra3; IL1F3; IL1RA; IRAP; MVCD4	interleukin 1 receptor antagonist