From 8add67aadce7a7c9bde245986a79d82731f0b8d6 Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Sat, 30 Mar 2024 21:56:13 +0200 Subject: [PATCH] Update phenotype-data.md --- docs/reference/phenotype-data.md | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/docs/reference/phenotype-data.md b/docs/reference/phenotype-data.md index c345e5dc..4beb7fd1 100644 --- a/docs/reference/phenotype-data.md +++ b/docs/reference/phenotype-data.md @@ -24,7 +24,7 @@ The goals of this document are: |---|---|---| | 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) |