Pathway from Scientific Research

Graph showing the is-a relationships among HPO terms present in at least half of the 46 NDA-coded RNU4-2 cases identified or significantly enriched among these 46 cases relative to 9,112 other unrelated NDA-coded participants of the 100KGP. Terms are shortened to remove Abnormality of (the) or Abnormal for conciseness. The significantly overrepresented terms are highlighted. For each term, the number of cases with the term and the percentage that number represents out of 46 is shown. For each overrepresented term, the proportion of NDA-coded participants that are not RNU4-2 cases with the term and the proportion of NDA-coded RNU4-2 cases with the term are represented as the base and the head of an arrow, respectively.

DOI