scholarly article | Q13442814 |
P8978 | DBLP publication ID | journals/nar/AmbergerBSH19 |
P356 | DOI | 10.1093/NAR/GKY1151 |
P932 | PMC publication ID | 6323937 |
P698 | PubMed publication ID | 30445645 |
P2093 | author name string | Ada Hamosh | |
Alan F Scott | |||
Joanna S Amberger | |||
Carol A Bocchini | |||
P2860 | cites work | Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes | Q47786222 |
Disease Ontology: improving and unifying disease annotations across species. | Q54941157 | ||
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017 | Q90589536 | ||
Analysis of protein-coding genetic variation in 60,706 humans | Q26831376 | ||
The Human Phenotype Ontology in 2017 | Q27927007 | ||
ClinGen--the Clinical Genome Resource | Q28648173 | ||
PubTator: a web-based text mining tool for assisting biocuration | Q28681141 | ||
Aligning knowledge sources in the UMLS: methods, quantitative results, and applications. | Q33206699 | ||
OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders | Q34449729 | ||
ClinVar: public archive of relationships among sequence variation and human phenotype | Q37661886 | ||
Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users | Q38474579 | ||
P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
P6216 | copyright status | copyrighted | Q50423863 |
P433 | issue | D1 | |
P921 | main subject | phenotype | Q104053 |
P304 | page(s) | D1038-D1043 | |
P577 | publication date | 2019-01-01 | |
P1433 | published in | Nucleic Acids Research | Q135122 |
P1476 | title | OMIM.org: leveraging knowledge across phenotype-gene relationships | |
P478 | volume | 47 |
Q110123027 | A Simple Standard for Sharing Ontological Mappings (SSSOM) |
Q92967181 | A human endogenous retrovirus encoded protease potentially cleaves numerous cellular proteins |
Q99571290 | A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region |
Q100750568 | A systematic review of monogenic etiologies of nonimmune hydrops fetalis |
Q96952506 | Association study based on topological constraints of protein-protein interaction networks |
Q98306020 | Building the vertebrate codex using the gene breaking protein trap library |
Q92590013 | Cell-free DNA donor fraction analysis in pediatric and adult heart transplant patients by multiplexed allele-specific quantitative PCR: Validation of a rapid and highly sensitive clinical test for stratification of rejection probability |
Q98884401 | Computational Methods and Software Tools for Functional Analysis of miRNA Data |
Q97421898 | Constructing knowledge graphs and their biomedical applications |
Q99417066 | Deciphering the Plasma Proteome of Type 2 Diabetes |
Q95326478 | Emerging role of NIK/IKK2-binding protein (NIBP)/Trafficking protein particle complex 9 (TRAPPC9) in nervous system diseases |
Q129060463 | Ensembl 2024 |
Q125949519 | Extending inherited metabolic disorder diagnostics with biomarker interaction visualizations |
Q99610657 | Fine-mapping and QTL tissue-sharing information improves the reliability of causal gene identification |
Q102221104 | FlyBase: updates to the Drosophila melanogaster knowledge base |
Q92886052 | Gene Information eXtension (GIX): effortless retrieval of gene product information on any website |
Q92993938 | Genome sequencing and implications for rare disorders |
Q90397852 | Genomic Landscape and Mutational Spectrum of ADAMTS Family Genes in Mendelian Disorders Based on Gene Evidence Review for Variant Interpretation |
Q98148417 | Guidelines for human gene nomenclature |
Q92708909 | HPO-Shuffle: an associated gene prioritization strategy and its application in drug repurposing for the treatment of canine epilepsy |
Q101051329 | High-depth African genomes inform human migration and health |
Q92974141 | Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder |
Q92966916 | Incremental data integration for tracking genotype-disease associations |
Q92448290 | LLPSDB: a database of proteins undergoing liquid-liquid phase separation in vitro |
Q89766592 | Large-Scale Transgenic Drosophila Resource Collections for Loss- and Gain-of-Function Studies |
Q90740709 | LnCeVar: a comprehensive database of genomic variations that disturb ceRNA network regulation |
Q90694778 | Loricrin: Past, Present, and Future |
Q103016791 | MarkerDB: an online database of molecular biomarkers |
Q92742570 | Metabolomic Data Exploration and Analysis with the Human Metabolome Database |
Q90148434 | Network Pharmacology Study on the Pharmacological Mechanism of Cinobufotalin Injection against Lung Cancer |
Q92283778 | New models for human disease from the International Mouse Phenotyping Consortium |
Q112683843 | Ontology-based identification and prioritization of candidate drugs for epilepsy from literature |
Q90711816 | PhaSePro: the database of proteins driving liquid-liquid phase separation |
Q99570891 | Protein Databases Related to Liquid-Liquid Phase Separation |
Q94552156 | Systematic Elucidation of the Potential Mechanisms of Core Chinese Materia Medicas in Treating Liver Cancer Based on Network Pharmacology |
Q60926591 | The 26th annual Nucleic Acids Research database issue and Molecular Biology Database Collection |
Q89595369 | The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms |
Q91132911 | The Clinical Genome and Ancestry Report: An interactive web application for prioritizing clinically implicated variants from genome sequencing data with ancestry composition |
Q90122590 | Using MARRVEL v1.2 for Bioinformatics Analysis of Human Genes and Variant Pathogenicity |
Q93179980 | VARIDT 1.0: variability of drug transporter database |
Q90402662 | Variant effect predictions capture some aspects of deep mutational scanning experiments |
Q96303193 | mTADA is a framework for identifying risk genes from de novo mutations in multiple traits |
Search more.