HPO's annotation for a gene
Arguments
- entrez
An NCBI Gene id, for example
7157. See the note on the lookup key in the file header: nothing else works here.- ...
Passed to
biohttp::get_json(), for examplethrottle.
Value
A biohttp envelope whose data is a list of two tibbles, diseases
and phenotypes, either of which may be NULL. Two tables rather than one,
because they are independent arrays in the response and joining them would
invent a disease-to-phenotype mapping the response does not carry. It also
carries source_url. See hpo_parse_diseases() and
hpo_parse_phenotypes().
References
Gargano et al. (2024). The Human Phenotype Ontology in 2024: phenotypes around the world. Nucleic Acids Research 52(D1), D1333-D1346. doi:10.1093/nar/gkad1005
Service documentation: https://hpo.jax.org/
Examples
# \donttest{
biohttp::body_or_null(hpo_gene_annotation(7157))$diseases
#> # A tibble: 20 × 4
#> id name mondo description
#> <chr> <chr> <chr> <chr>
#> 1 ORPHA:524 Li-Fraumeni syndrome MOND… NA
#> 2 ORPHA:668 Osteosarcoma MOND… NA
#> 3 ORPHA:96253 Cushing disease MOND… NA
#> 4 OMIM:202300 Adrenocortical carcinoma, pediatric MOND… NA
#> 5 ORPHA:1333 Familial pancreatic carcinoma MOND… NA
#> 6 OMIM:259500 Osteosarcoma MOND… NA
#> 7 OMIM:137800 Glioma susceptibility 1 MOND… NA
#> 8 OMIM:614740 Basal cell carcinoma 7 MOND… NA
#> 9 ORPHA:1501 Adrenocortical carcinoma MOND… NA
#> 10 OMIM:618165 Bone marrow failure syndrome 5 MOND… NA
#> 11 OMIM:114480 Breast cancer MOND… NA
#> 12 OMIM:114500 Colorectal cancer MOND… NA
#> 13 OMIM:114550 Hepatocellular carcinoma MOND… NA
#> 14 OMIM:260350 Pancreatic cancer MOND… NA
#> 15 OMIM:260500 Papilloma of choroid plexus MOND… NA
#> 16 OMIM:607107 Nasopharyngeal carcinoma MOND… NA
#> 17 ORPHA:2807 Papilloma of choroid plexus MOND… NA
#> 18 ORPHA:145 Hereditary breast and/or ovarian cancer syndro… MOND… NA
#> 19 OMIM:151623 Li-Fraumeni syndrome MOND… NA
#> 20 ORPHA:3318 Essential thrombocythemia MOND… NA
# }