203 Matching Annotations
  1. Jun 2019
  2. May 2019
    1. FBXO11
    2. bifid uvula
    3. FBXO11
  3. Apr 2019
  4. Mar 2019
  5. Feb 2019
    1. Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

      PMID: 28132690

      Gene: EXTL3

      Disease: Neuro-immuno-skeletal Dysplasia Syndrome

      MonDO: 0010668

      Inheritance Pattern: autosomal-recessive (maybe, check me on this, found 1st paragraph of results, but was unclear)

  6. Dec 2018
    1. HNF4A
  7. Nov 2018
    1. ClinVar variant ID lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/427942/

    2. ClinVar variant ID lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/427941/

    3. PLAA
  8. Aug 2018
    1. ClinGen allele ID lookup result: https://monarchinitiative.org/phenotype/HP:0002019

    2. FBXO11
    1. PPM1D
    1. EMC1
  9. Jul 2018
  10. Jun 2018