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DESCRIBE <http://purl.uniprot.org/SHA-384/8E0B8371D0CEDFF8E2317FFAAD23918EB5D0EEFBC6DAB20D1E1C3FCFAF00D54B9559F6CD915BC0F83EAAB60DDCA0246E>
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http://purl.uniprot.org/SHA-384/8E0B8371D0CEDFF8E2317FFAAD23918EB5D0EEFBC6DAB20D1E1C3FCFAF00D54B9559F6CD915BC0F83EAAB60DDCA0246E
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/8E0B8371D0CEDFF8E2317FFAAD23918EB5D0EEFBC6DAB20D1E1C3FCFAF00D54B9559F6CD915BC0F83EAAB60DDCA0246E
http://www.w3.org/2000/01/rdf-schema#comment
"This is the first report of mutations in GJA8 (connexin50) to be associated with autosomal dominant cataract and microcornea."
xsd:string
http://purl.uniprot.org/uniprot/#_089B91340E525867BEC600C563F73D77E9B02F14DEE875EA5752D3CF49CC29DDEF63FEEAC2A7701CF48A5195E9844CD8
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/8E0B8371D0CEDFF8E2317FFAAD23918EB5D0EEFBC6DAB20D1E1C3FCFAF00D54B9559F6CD915BC0F83EAAB60DDCA0246E
http://purl.uniprot.org/uniprot/A0A097IW98
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/8E0B8371D0CEDFF8E2317FFAAD23918EB5D0EEFBC6DAB20D1E1C3FCFAF00D54B9559F6CD915BC0F83EAAB60DDCA0246E
http://purl.uniprot.org/uniprot/#_A0A097IW98-mappedCitation-16604058
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/8E0B8371D0CEDFF8E2317FFAAD23918EB5D0EEFBC6DAB20D1E1C3FCFAF00D54B9559F6CD915BC0F83EAAB60DDCA0246E