DESCRIPTION:
Human Phenotype Ontology (HPO) gene set. This set contains genes that have been annotated to the HPO term "Autosomal dominant germline de novo mutation", which is defined as "Being related to a mutation that gamete that participates in fertilization. All cells of the emerging organism will be affected and the variant canl be passed on to the next generation." This gene set was automatically constructed using annotation and ontology data provided by HPO and includes gene-phenotypes annotations from all HPO sources. The transitive closure of this term is taken into account using is_a relationships. For more information: The Human Phenotype Ontology Consortium (HPOC), http://human-phenotype-ontology.org This gene set was generated using the GeneWeaver HPO loader v. 0.1.5, HPO OBO v. hp/releases/2020-03-27, and HPO Genes to Phenotypes (all sources, all frequencies) v. 2020.05.06.
LABEL:
HP:0025352
SCORE TYPE:
Binary
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Uploaded As | Gene Symbol | Homology | Score | Priority | LinkOuts | Emphasis |
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