Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
Explore this paper's citation graph
Summary
Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics.
- Type
- article
- Published
- 2004-12-17
- Cited by
- 3,399
- References
- 4
- Access
- Open access
- OpenAlex
- https://openalex.org/W2119412782
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:10814562
Keywords
OMIM : Online Mendelian Inheritance in Man, Mendelian inheritance, Biology, Genetics, Locus (genetics)
References
Cited by
- The Role of Protein Structural Analysis in the Next Generation Sequencing Era
- Application of a New Probabilistic Model for Mining Implicit Associated Cancer Genes from OMIM and Medline
- Comparative genetic analysis: the utility of mouse genetic systems for studying human monogenic disease
- Moby and Moby 2: Creatures of the Deep (Web)
- Omics data management and annotation.
- The analysis of the drug–targets based on the topological properties in the human protein–protein interaction network
- Characterising and Predicting Haploinsufficiency in the Human Genome
- Of Toasters and Molecular Ticker Tapes
- Contributions to an animal trait ontology.
- Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN–γ receptor–1 deficiency
- Rule extraction in gene-disease relationship discovery.
- Integrative systems biology approaches to identify and prioritize disease and drug candidate genes.
- Performance comparison of SNP detection tools with illumina exome sequencing data—an assessment using both family pedigree information and sample-matched SNP array data
- Analysis of copy number variations by SNP50 BeadChip array in Chinese sheep.
- Distance from sub-Saharan Africa predicts mutational load in diverse human genomes
- A network-driven approach for genome-wide association mapping
- Discover the network mechanisms underlying the connections between aging and age-related diseases
- Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families
- Genomics and evolution of protein phosphatases
- Mapping genotype–phenotype associations of nsSNPs in coiled‐coil oligomerization domains of the human proteome
Related papers
- Corrections to: "Phenotypic and Genotypic Analyses of Genetic Skin Disease through the Online Mendelian Inheritance in Man (OMIM) Database"
- Disease-Phenotype Deconvolution in Genetic Eye Diseases Using Online Mendelian Inheritance in Man.
- Genetics of Zoarces populations. I. Three loci determining the phosphoglucomutase isoenzymes in brain tissue.
- Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-linked Phenotypes
- A systematic characterization of genes underlying both complex and Mendelian diseases.
- Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes
- Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-linked Phenotypes
- Mendelian inheritance in man. Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes.
- Mendelian inheritance. Autosomal patterns.
- New models for human disease from the International Mouse Phenotyping Consortium