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🧬 基因注释:ROR2

📝 官方信息

官方名称:ROR family WNT receptor 2

功能摘要:The protein encoded by this gene is a receptor protein tyrosine kinase and type I transmembrane protein that belongs to the ROR subfamily of cell surface receptors. The protein may be involved in the early formation of the chondrocytes and may be required for cartilage and growth plate development. Mutations in this gene can cause brachydactyly type B, a skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. In addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome, which is characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance. [provided by RefSeq, Jul 2008].

🎯 作为靶基因的剪接因子
  • HNRNPC 综合评分: 0.412 · 证据 2 条
  • FUS 综合评分: 0.398 · 证据 1 条
  • fus 综合评分: 0.398 · 证据 1 条
  • HNRNPK 综合评分: 0.362 · 证据 2 条
  • HNRNPA1 综合评分: 0.350 · 证据 2 条
  • HNRNPM 综合评分: 0.350 · 证据 2 条
  • Tardbp 综合评分: 0.336 · 证据 1 条
  • HNRNPL 综合评分: 0.300 · 证据 2 条
  • HNRNPU 综合评分: 0.300 · 证据 2 条
  • KHSRP 综合评分: 0.300 · 证据 2 条
  • PTBP1 综合评分: 0.300 · 证据 2 条
  • RBFOX2 综合评分: 0.300 · 证据 2 条
  • NOVA1 综合评分: 0.262 · 证据 2 条
  • EWSR1 综合评分: 0.250 · 证据 2 条
  • FUBP1 综合评分: 0.250 · 证据 2 条
  • RBM10 综合评分: 0.250 · 证据 2 条
  • RBM15 综合评分: 0.250 · 证据 2 条
  • MATR3 综合评分: 0.200 · 证据 1 条
  • Rnps1 综合评分: 0.198 · 证据 1 条
  • SAFB 综合评分: 0.162 · 证据 1 条
🏥 关联疾病

该基因暂无关联疾病记录

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