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疾病ID:TCMBANKDI019110


疾病名:Smith-Lemli-Opitz Syndrome


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


HPO_Name:-


UMLS_Name:Disease or Syndrome


DO_Name:disease of metabolism; genetic disease


疾病类型:disease


DisGeNET_Link:C0175694


MeSH_Link:C16; C18


HPO_Link:-


UMLS_Link:T047


DO_Link:DOID:0014667; DOID:630


HERB_ID:HBDIS004178


   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
TCMBANKGE000781 LDLR FH; FHC; FHCL1; LDLCQ2 low density lipoprotein receptor
TCMBANKGE009304 FDFT1 DGPT; ERG9; SQS; SQSD; SS farnesyl-diphosphate farnesyltransferase 1
TCMBANKGE009616 SLC22A18 BWR1A; BWSCR1A; HET; IMPT1; ITM; ORCTL2; SLC22A1L; TSSC5; p45-BWR1A solute carrier family 22 member 18
TCMBANKGE000205 NOS2 HEP-NOS; INOS; NOS; NOS2A nitric oxide synthase 2
TCMBANKGE005396 ACADSB 2-MEBCAD; ACAD7; SBCAD acyl-CoA dehydrogenase short/branched chain
TCMBANKGE012594 RHO CSNBAD1; OPN2; RP4 rhodopsin
TCMBANKGE000271 APOE AD2; APO-E; ApoE4; LDLCQ5; LPG apolipoprotein E
TCMBANKGE012204 ACAD8 ACAD-8; ARC42; IBDH acyl-CoA dehydrogenase family member 8
TCMBANKGE007956 AUH - AU RNA binding methylglutaconyl-CoA hydratase
TCMBANKGE000471 POMC ACTH; CLIP; LPH; MSH; NPP; OBAIRH; POC proopiomelanocortin
TCMBANKGE000437 FZD1 - frizzled class receptor 1
TCMBANKGE007340 SC5D ERG3; S5DES; SC5DL sterol-C5-desaturase
TCMBANKGE013495 SAFB HAP; HET; SAB-B1; SAF-B; SAF-B1; SAFB1 scaffold attachment factor B
TCMBANKGE001879 STS ARSC; ARSC1; ASC; ES; SSDD; XLI steroid sulfatase
TCMBANKGE008102 FZD5 C2orf31; HFZ5 frizzled class receptor 5
TCMBANKGE000912 SHH HHG1; HLP3; HPE3; MCOPCB5; SMMCI; ShhNC; TPT; TPTPS sonic hedgehog signaling molecule
TCMBANKGE000299 HMGCR LDLCQ3 3-hydroxy-3-methylglutaryl-CoA reductase
TCMBANKGE000469 CTSD CLN10; CPSD; HEL-S-130P cathepsin D
TCMBANKGE010270 APEX1 APE; APE1; APEN; APEX; APX; HAP1; REF1 apurinic/apyrimidinic endodeoxyribonuclease 1
TCMBANKGE000198 KCNMA1 BKTM; CADEDS; IEG16; KCa1.1; LIWAS; MaxiK; PNKD3; SAKCA; SLO; SLO-ALPHA; SLO1; bA205K10.1; hSlo; mSLO1 potassium calcium-activated channel subfamily M alpha 1
TCMBANKGE000276 NOS1 IHPS1; N-NOS; NC-NOS; NOS; bNOS; nNOS nitric oxide synthase 1
TCMBANKGE011723 DHCR7 SLOS 7-dehydrocholesterol reductase
TCMBANKGE000801 HTR1A 5-HT-1A; 5-HT1A; 5HT1a; ADRB2RL1; ADRBRL1; G-21; PFMCD 5-hydroxytryptamine receptor 1A
TCMBANKGE007328 PAX6 AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA; WAGR paired box 6
TCMBANKGE001054 ABCA1 ABC-1; ABC1; CERP; HDLCQTL13; HDLDT1; HPALP1; TGD ATP binding cassette subfamily A member 1
TCMBANKGE000764 TRPV1 VR1 transient receptor potential cation channel subfamily V member 1
TCMBANKGE000819 TRPA1 ANKTM1; FEPS; FEPS1 transient receptor potential cation channel subfamily A member 1