dgn-np:NP4339.RAJlB6_ig90M-WyDi71nzP8paRUjnG0LJj3J1s2HfUHec130_provenance {
  dgn-np:NP4339.RAJlB6_ig90M-WyDi71nzP8paRUjnG0LJj3J1s2HfUHec130_assertion dct:description "[Comparing the phenotype of the families with a pathogenic mutation to families with absence of OFD1 mutation, polycystic kidneys and short stature were significantly more frequent in the group with no OFD1 mutation, whereas lingual hamartomas were significantly more frequent in the group with OFD1 mutation.]. 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:16397067 ;
    prov:wasDerivedFrom dgn-void:uniprot-2016 ;
    prov:wasGeneratedBy eco:ECO_0000218 .
  dgn-void:source_evidence_curated a eco:ECO_0000205 ;
    rdfs:comment "Gene-disease associations manually curated."@en ;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  dgn-void:uniprot-2016 pav:importedOn "2016-01-25"^^xsd:date .
}