dgn-np:NP391223.RAiYBhIFSZiegibdSBXQ_DZC0pjKfu4Jpblirpi81UCbQ130_provenance {
dgn-np:NP391223.RAiYBhIFSZiegibdSBXQ_DZC0pjKfu4Jpblirpi81UCbQ130_assertion dcterms:description "[Mutations in nine genes (ARSC1, CHST6, COL8A2, GLA, GSN, KRT3, KRT12, M1S1and TGFBI [BIGH3]) account for some of the corneal diseases and three of them are associated with amyloid deposition in the cornea (GSN, M1S1, TGFBI) including most of the lattice corneal dystrophies (LCDs) [LCD types I, IA, II, IIIA, IIIB, IV, V, VI and VII] recognized by their lattice pattern of linear opacities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence dgn-void:source_evidence_literature ;
sio:SIO_000772 miriam-pubmed:12700042 ;
prov:wasDerivedFrom dgn-void:befree-2016 ;
prov:wasGeneratedBy eco:ECO_0000203 .
dgn-void:befree-2016 pav:importedOn "2016-02-19"^^
xsd:date .
dgn-void:source_evidence_literature a eco:ECO_0000212 ;
rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label "DisGeNET evidence - LITERATURE"@en .
}