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DESCRIBE <http://purl.uniprot.org/SHA-384/70FEBD818CE36D0F5449CFBC9BBCFD66885F9259A1C2FB0D2700FB2B74B26A8498648B0F7802C1F36B2B3C543968C7FB>
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http://purl.uniprot.org/SHA-384/70FEBD818CE36D0F5449CFBC9BBCFD66885F9259A1C2FB0D2700FB2B74B26A8498648B0F7802C1F36B2B3C543968C7FB
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/70FEBD818CE36D0F5449CFBC9BBCFD66885F9259A1C2FB0D2700FB2B74B26A8498648B0F7802C1F36B2B3C543968C7FB
http://www.w3.org/2000/01/rdf-schema#comment
"Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia with PMM2 mutations in two siblings."
xsd:string
http://purl.uniprot.org/uniprot/#_DD861EAB27A5801511C744ABFBB33630EB301AABAEA5F6FA2D4B6380559400A80639D342BFF179B628325076AB7864DB
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/70FEBD818CE36D0F5449CFBC9BBCFD66885F9259A1C2FB0D2700FB2B74B26A8498648B0F7802C1F36B2B3C543968C7FB
http://purl.uniprot.org/uniprot/O15305
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/70FEBD818CE36D0F5449CFBC9BBCFD66885F9259A1C2FB0D2700FB2B74B26A8498648B0F7802C1F36B2B3C543968C7FB
http://purl.uniprot.org/uniprot/#_O15305-mappedCitation-22374380
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/70FEBD818CE36D0F5449CFBC9BBCFD66885F9259A1C2FB0D2700FB2B74B26A8498648B0F7802C1F36B2B3C543968C7FB