Abstract Online Mendelian Inheritance in Man (OMIM) at OMIM. org is the primary repository
of comprehensive, curated information on genes and genetic phenotypes and the …

The ability of living systems to adapt to changing conditions originates from their capacity to
change their molecular constitution. This is achieved by multiple mechanisms that modulate …

Class A G-protein-coupled receptors (GPCRs) influence virtually every aspect of human
physiology. Understanding receptor activation mechanism is critical for discovering novel …

Abstract Online Mendelian Inheritance in Man, OMIM®, is a comprehensive, authoritative
and timely research resource of curated descriptions of human genes and phenotypes and …

Abstract ClinVar (http://www. ncbi. nlm. nih. gov/clinvar/) provides a freely available archive
of reports of relationships among medically important variants and phenotypes. ClinVar …

Discovering the genetic basis of a Mendelian phenotype establishes a causal link between
genotype and phenotype, making possible carrier and population screening and direct …

Historically, the classification and nomenclature of diseases has not been systematic and
diseases were either classified by cause, presenting symptoms and signs, pathological …

Abstract Ensembl (http://www. ensembl. org) creates tools and data resources to facilitate
genomic analysis in chordate species with an emphasis on human, major vertebrate model …

How disease-associated mutations impair protein activities in the context of biological
networks remains mostly undetermined. Although a few renowned alleles are well …

The mission of the Universal Protein Resource (UniProt)(http://www. uniprot. org) is to
provide the scientific community with a comprehensive, high-quality and freely accessible …