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疾病ID:TCMBANKDI030619


疾病名:X-Linked Dyskeratosis Congenita


MeSH_Name:Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases


HPO_Name:-


UMLS_Name:Disease or Syndrome


DO_Name:genetic disease; disease of anatomical entity


疾病类型:disease


DisGeNET_Link:C1148551


MeSH_Link:C16; C17; C15


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
TCMBANKGE014583 RTEL1 C20orf41; DKCA4; DKCB5; NHL; PFBMFT3; RTEL regulator of telomere elongation helicase 1
TCMBANKGE012007 PARN DAN; DKCB6; PFBMFT4 poly(A)-specific ribonuclease
TCMBANKGE007048 TINF2 DKCA3; TIN2 TERF1 interacting nuclear factor 2
TCMBANKGE000940 TERT CMM9; DKCA2; DKCB4; EST2; PFBMFT1; TCS1; TP2; TRT; hEST2; hTRT telomerase reverse transcriptase
TCMBANKGE005422 CD59 16.3A5; 1F5; EJ16; EJ30; EL32; G344; HRF-20; HRF20; MAC-IP; MACIF; MEM43; MIC11; MIN1; MIN2; MIN3; MIRL; MSK21; p18-20 CD59 molecule (CD59 blood group)
TCMBANKGE014466 TPP1 CLN2; GIG1; LPIC; SCAR7; TPP-1 tripeptidyl peptidase 1
TCMBANKGE014889 TRUB1 PUS4 TruB pseudouridine synthase family member 1
TCMBANKGE013473 F2R CF2R; HTR; PAR-1; PAR1; TR coagulation factor II thrombin receptor
TCMBANKGE011881 NPM1 B23; NPM nucleophosmin 1
TCMBANKGE011884 DKC1 CBF5; DKC; DKCX; NAP57; NOLA4; XAP101 dyskerin pseudouridine synthase 1
TCMBANKGE014681 DCLRE1B APOLLO; SNM1B; SNMIB DNA cross-link repair 1B
TCMBANKGE006038 SHQ1 GRIM-1; Shq1p SHQ1, H/ACA ribonucleoprotein assembly factor