OMIM.org: leveraging knowledge across phenotype-gene relationships

scientific article published on 01 January 2019

OMIM.org: leveraging knowledge across phenotype-gene relationships is …
instance of (P31):
scholarly articleQ13442814

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P8978DBLP publication IDjournals/nar/AmbergerBSH19
P356DOI10.1093/NAR/GKY1151
P932PMC publication ID6323937
P698PubMed publication ID30445645

P2093author name stringAda Hamosh
Alan F Scott
Joanna S Amberger
Carol A Bocchini
P2860cites workSearching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic PhenotypesQ47786222
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 2017Q90589536
Analysis of protein-coding genetic variation in 60,706 humansQ26831376
The Human Phenotype Ontology in 2017Q27927007
ClinGen--the Clinical Genome ResourceQ28648173
PubTator: a web-based text mining tool for assisting biocurationQ28681141
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 disordersQ34449729
ClinVar: public archive of relationships among sequence variation and human phenotypeQ37661886
Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end usersQ38474579
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issueD1
P921main subjectphenotypeQ104053
P304page(s)D1038-D1043
P577publication date2019-01-01
P1433published inNucleic Acids ResearchQ135122
P1476titleOMIM.org: leveraging knowledge across phenotype-gene relationships
P478volume47

Reverse relations

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