sub:provenance {
sub:assertion dcterms:description "[In addition, two missense variants in PAM, encoding p.Asp563Gly (frequency of 4.98%) and p.Ser539Trp (frequency of 0.65%), confer moderately higher risk of T2D (OR = 1.23, P = 3.9 � 10(-10) and OR = 1.47, P = 1.7 � 10(-5), respectively), and a rare (0.20%) frameshift variant in PDX1, encoding p.Gly218Alafs*12, associates with high risk of T2D (OR = 2.27, P = 7.3 � 10(-7)).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence dgn-void:source_evidence_curated ;
sio:SIO_000772 miriam-pubmed:24464100 ;
prov:wasDerivedFrom dgn-void:CTD_human ;
prov:wasGeneratedBy eco:ECO_0000218 .
dgn-void:CTD_human pav:importedOn "2017-01-25"^^
xsd:date .
dgn-void:source_evidence_curated a eco:ECO_0000205 ;
rdfs:comment "Gene-disease associations manually curated."@en ;
rdfs:label "DisGeNET evidence - CURATED"@en .
}