ArticleNucleic acids research2018
eRAM: encyclopedia of rare disease annotations for precision medicine.
Article in Nucleic acids research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed.
- The ROBOKOP v1.0 knowledge graph system for exploring relationships between biomedical entities.Scientific reports · 2026Article
- Classification and epidemiologic analysis of 86 diseases inIntractable & rare diseases research · 2024Article
- Clustering rare diseases within an ontology-enriched knowledge graph.Journal of the American Medical Informatics Association : JAMIA · 2023Article
- RDBridge: a knowledge graph of rare diseases based on large-scale text mining.Bioinformatics (Oxford, England) · 2023Article
- Clustering rare diseases within an ontology-enriched knowledge graph.bioRxiv : the preprint server for biology · 2023Article
- Literature Review on Health Emigration in Rare Diseases-A Machine Learning Perspective.International journal of environmental research and public health · 2023Review
- Integrative Rare Disease Profile Creation via NormMap to Advance Rare Disease Research.Proceedings. IEEE International Conference on Bioinformatics and Biomedicine · 2022Article
- OARD: Open annotations for rare diseases and their phenotypes based on real-world data.American journal of human genetics · 2022Article
- Rare disease-based scientific annotation knowledge graph.Frontiers in artificial intelligence · 2022Article
- Scientific Evidence Based Knowledge Graph in Rare Diseases.Proceedings. IEEE International Conference on Bioinformatics and Biomedicine · 2021Article
- Drug Discovery of Spinal Muscular Atrophy (SMA) from the Computational Perspective: A Comprehensive Review.International journal of molecular sciences · 2021Review
- Human-induced pluripotent stem cells as models for rare cardiovascular diseases: from evidence-based medicine to precision medicine.Pflugers Archiv : European journal of physiology · 2021Review
- Generalized and transferable patient language representation for phenotyping with limited data.Journal of biomedical informatics · 2021Article
- TCRD and Pharos 2021: mining the human proteome for disease biology.Nucleic acids research · 2021Article
- Leveraging the UMLS As a Data Standard for Rare Disease Data Normalization and Harmonization.Methods of information in medicine · 2020Article
- Therapies for rare diseases: therapeutic modalities, progress and challenges ahead.Nature reviews. Drug discovery · 2020Review
- Drug Repositioning for Noonan and LEOPARD Syndromes by Integrating Transcriptomics With a Structure-Based Approach.Frontiers in pharmacology · 2020Article
- Rare disease knowledge enrichment through a data-driven approach.BMC medical informatics and decision making · 2019Article
- Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.Frontiers in pharmacology · 2019Article
- Novel Neonatal Variants of the Carbamoyl Phosphate Synthetase 1 Deficiency: Two Case Reports and Review of Literature.Frontiers in genetics · 2019Article
Corrections and comments
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Authors and funding
14 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rare diseases affect over a hundred million people worldwide, most of these patients are not accurately diagnosed and effectively treated. The limited knowledge of rare diseases forms the biggest obstacle for improving their treatment. Detailed clinical phenotyping is considered as a keystone of deciphering genes and realizing the precision medicine for rare diseases. Here, we preset a standardized system for various types of rare diseases, called encyclopedia of Rare disease Annotations for Precision Medicine (eRAM). eRAM was built by text-mining nearly 10 million scientific publications and electronic medical records, and integrating various data in existing recognized databases (such as Unified Medical Language System (UMLS), Human Phenotype Ontology, Orphanet, OMIM, GWAS). eRAM systematically incorporates currently available data on clinical manifestations and molecular mechanisms of rare diseases and uncovers many novel associations among diseases. eRAM provides enriched annotations for 15 942 rare diseases, yielding 6147 human disease related phenotype terms, 31 661 mammalians phenotype terms, 10,202 symptoms from UMLS, 18 815 genes and 92 580 genotypes. eRAM can not only provide information about rare disease mechanism but also facilitate clinicians to make accurate diagnostic and therapeutic decisions towards rare diseases. eRAM can be freely accessed at http://www.unimd.org/eram/.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.