Concepedia

Phenotype Knowledge Graphs

Phenotype Knowledge Graph is a structured knowledge representation system that integrates phenotypic entities and their relationships across biological, clinical, and genetic domains using semantic web technologies to enable interoperability, reasoning, and harmonization of phenotype data.

27

Publications

3.4K

Citations

231

Authors

101

Institutions

Publications per year

2017–2026

16

Variants

Phenotype Knowledge Graph

Parents

Publications

27

OMIM.org: leveraging knowledge across phenotype–gene relationships

Joanna Amberger, Carol Bocchini, Alan F. Scott et al. · Nucleic Acids Research · 2018 · 1.1K citations · Full text

, , +14

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

Peter N. Robinson, Sebastian Köhler, Sebastian Bauer et al. · The American Journal of Human Genetics · 2008 · 1.1K citations · Full text

, , +13

Using ontologies to describe mouse phenotypes

Georgios V. Gkoutos, Eain C.J. Green, Ann‐Marie Mallon et al. · Genome biology · 2004 · 243 citations · Full text

, , +14

Wikidata as a knowledge graph for the life sciences

Andra Waagmeester, Gregory S. Stupp, Sebastian Burgstaller-Muehlbacher et al. · eLife · 2020 · 155 citations · Full text

, , +17

The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species

Tim Putman, Kevin Schaper, Nicolas Matentzoglu et al. · Nucleic Acids Research · 2023 · 105 citations · Full text

, , +17

1–5 of 27

Authors

231

  1. PN
    Peter N. Robinson

    Charité - Universitätsmedizin Berlin, Germany

    4 publications · 1.3K citations

    4

    h-index

  2. CM
    Chris Mungall

    Lawrence Berkeley National Laboratory, United States

    4 publications · 282 citations

    4

    h-index

  3. TJ
    Tiffany J. Callahan

    University of Colorado Anschutz Medical Campus, United States

    3 publications · 110 citations

    3

    h-index

  4. GV
    Georgios V. Gkoutos

    University of Birmingham, United Kingdom

    3 publications · 379 citations

    3

    h-index

  5. JM
    John M. Hancock

    Mary Lyon Centre at MRC Harwell, United Kingdom

    3 publications · 379 citations

    3

    h-index

1–5 of 231

Institutions

101

  1. Lawrence Berkeley National Laboratory

    Berkeley, United States

    4 h-index

    14 publications

    1.2K citations

  2. Charité - Universitätsmedizin Berlin

    Berlin, Germany

    3 h-index

    14 publications

    6.7K citations

  3. Mary Lyon Centre at MRC Harwell

    Oxford, United Kingdom

    3 h-index

    9 publications

    1.3K citations

  4. University of Pittsburgh

    Pittsburgh, United States

    3 h-index

    7 publications

    265 citations

  5. European Bioinformatics Institute

    Cambridge, United Kingdom

    3 h-index

    14 publications

    1.2K citations

  6. University of Colorado Anschutz Medical Campus

    Aurora, United States

    3 h-index

    28 publications

    2.4K citations

  7. MRC Human Genetics Unit

    Edinburgh, United Kingdom

    2 h-index

    2 publications

    293 citations

  8. Mayo Clinic in Arizona

    Scottsdale, United States

    2 h-index

    3 publications

    104 citations

1–8 of 101

Venues

  1. Journal of Biomedical Informatics

    4 publications · 131 citations

    4

    h-index

  2. Nucleic Acids Research

    4 publications · 1.3K citations

    4

    h-index

  3. Bioinformatics

    2 publications · 74 citations

    2

    h-index

  4. Journal of Biomedical Semantics

    JBMS · 1 publications · 14 citations

    1

    h-index

  5. eLife

    1 publications · 155 citations

    1

    h-index

1–5