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QuickView for chondrodysplasia (phenotype)


Genetic Markers

Most Correlated Genes

Most Correlated SNPs

  1. PTH1R
  2. MIA3
  3. HHAT
  4. COL2A1
  5. LBR
  1. No SNPs found
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Pathway Enrichment

Most Correlated Biogroups

  1. cartilage development
  2. connective tissue development
  3. ossification
  4. GPCR, family 2, parathyroid hormone receptor
  5. bone remodeling
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Curated Studies

Most Correlated Studies

  1. Chondrocyte gene expression in two mouse models of metaplasia chondrodysplasia
  2. Skin fibroblasts of Schimke immuno-osseous dysplasia cell lines with SMARCAL1 mutations
  3. Renal proximal tubular cells from patients with or without Schimke immuno-osseous dysplasia
  4. Mouse Phenotypes - Dwarfism
  5. Mouse Phenotypes - Osteochondrodysplasia
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Literature

Most Relevant Literature

  1. A new family with epiphyseal chondrodysplasia type Miura.
  2. Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.
  3. Skeletal phenotype/genotype in progressive pseudorheumatoid chondrodysplasia.
  4. Kindlin-2 deletion in osteoprogenitors causes severe chondrodysplasia and low-turnover osteopenia in…
  5. Chondrodysplasias and TGFβ signaling.
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Clinical Trials

Most Relevant Clinical Trials

  1. Rhizomelic Chondrodysplasia Punctata Registry
  2. RCDP Natural History Study
  3. Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
  4. Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Choleste…
  5. FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP)
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