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疾病ID:TCMBANKDI011983


疾病名:Orofaciodigital Syndrome I


MeSH_Name:Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases


HPO_Name:-


UMLS_Name:Disease or Syndrome


DO_Name:genetic disease; syndrome


疾病类型:disease


DisGeNET_Link:C1510460


MeSH_Link:C16; C05


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
TCMBANKGE004336 KIAA0753 MNR; OFIP KIAA0753
TCMBANKGE002075 IFT57 ESRRBL1; HIPPI; MHS4R2; OFD18 intraflagellar transport 57
TCMBANKGE000897 GLI3 ACLS; GCPS; GLI3-190; GLI3FL; PAP-A; PAPA; PAPA1; PAPB; PHS; PPDIV GLI family zinc finger 3
TCMBANKGE006969 PCBD1 DCOH; PCBD; PCD; PHS pterin-4 alpha-carbinolamine dehydratase 1
TCMBANKGE000406 CDKL5 CFAP247; EIEE2; ISSX; STK9 cyclin dependent kinase like 5
TCMBANKGE004860 TMEM107 GRVS638; JBTS29; MKS13; PRO1268 transmembrane protein 107
TCMBANKGE002134 SCLT1 CAP-1A; CAP1A sodium channel and clathrin linker 1
TCMBANKGE006268 DDX59 OFD5; ZNHIT5 DEAD-box helicase 59
TCMBANKGE001565 SERPINA4 KAL; KLST; KST; PI-4; PI4; kallistatin serpin family A member 4
TCMBANKGE005109 SDCCAG8 BBS16; CCCAP; CCCAP SLSN7; HSPC085; NPHP10; NY-CO-8; SLSN7; hCCCAP SHH signaling and ciliogenesis regulator SDCCAG8
TCMBANKGE000355 HFM1 MER3; POF9; SEC63D1; Si-11; Si-11-6; helicase helicase for meiosis 1
TCMBANKGE006635 FAM149B1 JBTS36; KIAA0974 family with sequence similarity 149 member B1