Genes for a specific HPO term. Charite, Monarch initialive or other website ?
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6.2 years ago
spanakorice ▴ 10

Hi,

I would like to get the list of genes for a specific HPO term (HP:0002597 - Abnormality of the vasculature).

If I search the Charité website I get a list of 973 genes. http://compbio.charite.de/hpoweb/showterm?id=HP:0000118#id=HP:0002597

If I search the Monarch initiative website, and filter for homo sapiens, the gene list has 6007 genes. https://monarchinitiative.org/phenotype/HP:0002597#genes

Any idea which list to prefer?

Thanks in advance!

HPO • 1.2k views
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The longer list of 6007 genes shown at the link you provided appears to include multiple other phenotypes and species, and an export filtered to "Homo sapiens" yields 10,396 genes, which makes me question the interpretation of this interface. You may want to query the site owners or their documentation. Are you interested in human genes only? The HPO site also shows 973 human genes associated to this phenotype: https://hpo.jax.org/app/browse/term/HP:0002597. That smaller number seems more credible to me based on size and a look at some of the genes on the lists.

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