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Update phenotype-data.md
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matentzn committed Mar 30, 2024
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Expand Up @@ -24,7 +24,7 @@ The goals of this document are:
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| Gene to phenotype associations | [Online Mendelian Inheritance in Man (OMIM)](https://www.omim.org/), [Human Phenotype Ontology (HPO)](https://hpo.jax.org/app/), [Gene Ontology (GO)](http://geneontology.org/) | Achondroplasia (associated with FGFR3 gene mutations) |
| Gene to disease associations | [The Cancer Genome Atlas (TCGA)](https://www.cancer.gov/about-nci/organization/ccg/research/structural-genomics/tcga), [Online Mendelian Inheritance in Man (OMIM)](https://www.omim.org/), [GWAS Catalog](https://www.ebi.ac.uk/gwas/) | Breast invasive carcinoma (associated with BRCA1/BRCA2 mutations) |
| Phenotype-phenotype semantic similarity | [Human Phenotype Ontology (HPO)](https://hpo.jax.org/app/), [Unified Medical Language System (UMLS)](https://www.nlm.nih.gov/research/umls/index.html), [Disease Ontology (DO)](http://disease-ontology.org/) | Cardiac abnormalities (semantic similarity with congenital heart defects) |
| Phenotype-phenotype semantic similarity | [Human Phenotype Ontology (HPO)](https://hpo.jax.org/app/), [Exomiser](https://exomiser.readthedocs.io/), [Monarch Initiative](https://monarchinitiative.org/) | Cardiac abnormalities (semantic similarity with congenital heart defects) |
| Quantified trait data (QTL etc) | [NHGRI-EBI GWAS Catalog](https://www.ebi.ac.uk/gwas/), [Genotype-Tissue Expression (GTEx)](https://gtexportal.org/home/), [The Human Protein Atlas](https://www.proteinatlas.org/) | Height (quantified trait associated with SNPs in genomic regions) |
| Electronic health records | [Medical Information Mart for Intensive Care III (MIMIC-III)](https://mimic.physionet.org/), [UK Biobank](https://www.ukbiobank.ac.uk/), [IBM Watson Health](https://www.ibm.com/watson-health) | Acute kidney injury (recorded diagnosis during ICU stay) |
| Epidemiological datasets | [Framingham Heart Study](https://framinghamheartstudy.org/), [National Health and Nutrition Examination Survey (NHANES)](https://www.cdc.gov/nchs/nhanes/index.htm), [Global Burden of Disease Study (GBD)](http://www.healthdata.org/gbd) | Cardiovascular disease (epidemiological study of risk factors and disease incidence) |
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